Nephrotic syndrome

Summary

Nephrotic syndrome (MONDO:0005377) is a disease caused by variants in DLC1, ITSN1, ITSN2, and 2 other genes, with 74 cohort genes (114 GWAS associations across 40 studies) and 104 clinical trials. The dominant Reactome pathway is Laminin interactions (7 cohort genes). Top therapeutic interventions include tacrolimus anhydrous, corticotropin, and furosemide.

At a glance

• Causal genes: DLC1 (GenCC Strong), ITSN1 (GenCC Strong), ITSN2 (GenCC Strong), PODXL (GenCC Strong) (+1 more)
• Cohort genes: 74
• GWAS associations: 114
• ClinVar variants: 184
• Clinical trials: 104

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nephrotic syndrome
Mondo ID	MONDO:0005377
EFO	EFO:0004255
MeSH	D009404
DOID	DOID:1184
ICD-10-CM	N04
ICD-11	1184209951
NCIT	C34845
SNOMED CT	52254009
UMLS	C0027726
MedGen	10308
GARD	0027721
Is cancer (heuristic)	no

Also known as: nephrotic syndrome · nephrotic syndromes · syndrome, nephrotic · syndromes, nephrotic

Data availability: 184 ClinVar variants · 114 GWAS associations (40 studies) · 10 GenCC gene-disease records · 1 cell line.

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › syndromic disease › nephrotic syndrome

Related subtypes (1183): Neu-Laxova syndrome, inclusion body myopathy with Paget disease of bone and frontotemporal dementia, syndromic intellectual disability, abdominal obesity-metabolic syndrome, fibrogenesis imperfecta ossium, Fanconi renotubular syndrome, palindromic rheumatism, hepatorenal syndrome, Potter sequence, vertebral artery insufficiency, sick sinus syndrome, Tietze syndrome, toxic shock syndrome, capillary leak syndrome, dumping syndrome, FG syndrome, basilar artery insufficiency, long QT syndrome, Treacher-Collins syndrome, superior mesenteric artery syndrome, disappearing bone disease, Brown-Sequard syndrome, Froelich syndrome, diffuse infiltrative lymphocytosis syndrome, Capgras syndrome, compartment syndrome, central sleep apnea syndrome, irritable bowel syndrome, myalgic encephalomeyelitis/chronic fatigue syndrome, acute coronary syndrome, fibromyalgia, substance withdrawal syndrome, acute chest syndrome, Barre-Lieou syndrome, cauda equina syndrome, Kluver-Bucy syndrome, Miller Fisher syndrome, persian gulf syndrome, Reye syndrome, thoracic outlet syndrome, Waterhouse-Friderichsen syndrome, Wissler syndrome, acute respiratory distress syndrome, Achenbach syndrome, miliaria, anterior spinal artery syndrome, burning mouth syndrome, dry eye syndrome, empty sella syndrome, euthyroid sick syndrome, lateral medullary syndrome, subclavian steal syndrome, tarsal tunnel syndrome, tethered spinal cord syndrome, branchio-oto-renal syndrome, prune belly syndrome, Achard syndrome, alopecia-epilepsy-pyorrhea-intellectual disability syndrome, Finnish type amyloidosis, Angelman syndrome, aniridia-absent patella syndrome, ankyloblepharon filiforme adnatum-cleft palate syndrome, Townes-Brocks syndrome, obstructive sleep apnea syndrome, Lown-Ganong-Levine syndrome, Behcet disease, brachydactyly-arterial hypertension syndrome, brachydactyly type A2, fibular aplasia-ectrodactyly syndrome, brachydactyly-nystagmus-cerebellar ataxia syndrome, Sillence syndrome, Brachymorphism-onychodysplasia-dysphalangism syndrome, brachytelephalangy-dysmorphism-Kallmann syndrome, dilated cardiomyopathy 1A, cat-eye syndrome, cerebrocostomandibular syndrome, Alagille syndrome, autosomal dominant chondrodysplasia punctata, cleidocranial dysplasia 1, cleidorhizomelic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Cri-du-chat syndrome, autosomal dominant deafness - onychodystrophy syndrome, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Duane retraction syndrome, 3-M syndrome, dyschondrosteosis-nephritis syndrome, hereditary benign intraepithelial dyskeratosis, encephalopathy, recurrent, of childhood, Camurati-Engelmann disease, Felty syndrome, chromosome 16p12.1 deletion syndrome, 520kb, Frasier syndrome, Gamstorp-Wohlfart syndrome, Tourette syndrome, glaucoma-sleep apnea syndrome, renal cysts and diabetes syndrome, hypotrichosis-lymphedema-telangiectasia syndrome (grouping), GMS syndrome, gray platelet syndrome, hand-foot-genital syndrome, facial hemiatrophy, Bencze syndrome, alpha thalassemia-intellectual disability syndrome type 1, Gilbert syndrome, mullerian duct anomalies-limb anomalies syndrome, hypoparathyroidism-deafness-renal disease syndrome, chromosome 18p deletion syndrome, Pallister-Hall syndrome, ichthyosis-cheek-eyebrow syndrome, Jacobsen syndrome, palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome, palmoplantar keratoderma-esophageal carcinoma syndrome, Kleine-Levin syndrome, angioosteohypertrophic syndrome, congenital laryngeal web, Lenz-Majewski hyperostotic dwarfism, Noonan syndrome with multiple lentigines, lymphedema-cerebral arteriovenous anomaly syndrome, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, yellow nail syndrome, lymphedema-distichiasis syndrome, Nager acrofacial dysostosis, jaw-winking syndrome, Marfan syndrome, Melkersson-Rosenthal syndrome, metaphyseal chondrodysplasia, Jansen type, Schmid metaphyseal chondrodysplasia, metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, microgastria-limb reduction defect syndrome, Mobius syndrome, muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, nail-patella syndrome, Schilbach-Rott syndrome, syndromic orbital border hypoplasia, Buschke-Ollendorff syndrome, nasopalpebral lipoma-coloboma syndrome, Perry syndrome, Poland syndrome, polydactyly-myopia syndrome, Greig cephalopolysyndactyly syndrome, Prader-Willi syndrome, Guttmacher syndrome, Currarino triad, Hutchinson-Gilford progeria syndrome, progeria-short stature-pigmented nevi syndrome, Liddle syndrome, exfoliation syndrome, ptosis-strabismus-ectopic pupils syndrome, radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome, radial ray hypoplasia-choanal atresia syndrome, Roussy-Levy syndrome, Silver-Russell syndrome, Ruvalcaba syndrome, oculodental syndrome, Rutherfurd type, aplasia of lacrimal and salivary glands, scalp defects-postaxial polydactyly syndrome, ulnar-mammary syndrome, septooptic dysplasia, Czeizel-Losonci syndrome, polycystic ovary syndrome, stiff-person syndrome, syndactyly-polydactyly-ear lobe syndrome, HELLP syndrome, double uterus-hemivagina-renal agenesis syndrome, VACTERL/vater association, posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome, ptosis-vocal cord paralysis syndrome, Freeman-Sheldon syndrome, Williams syndrome, Denys-Drash syndrome, Wolf-Hirschhorn syndrome, ablepharon macrostomia syndrome, acrocallosal syndrome, PAGOD syndrome, alopecia - intellectual disability syndrome, mitochondrial DNA depletion syndrome 4a, Alstrom syndrome, aniridia-cerebellar ataxia-intellectual disability syndrome, aniridia-renal agenesis-psychomotor retardation syndrome, aplasia cutis congenita-intestinal lymphangiectasia syndrome, fetal akinesia deformation sequence, blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome, Bloom syndrome, Elsahy-Waters syndrome, campomelia, Cumming type, camptomelic syndrome, long-limb type, congenital cataract-ichthyosis syndrome, colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, hepatic fibrosis-renal cysts-intellectual disability syndrome, Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome, CHARGE syndrome, Aagenaes syndrome, infantile choroidocerebral calcification syndrome, Yunis-Varon syndrome, corneal dystrophy-perceptive deafness syndrome, cortical blindness-intellectual disability-polydactyly syndrome, Crigler-Najjar syndrome, cataract-nephropathy-encephalopathy syndrome, Fraser syndrome, cystic fibrosis-gastritis-megaloblastic anemia syndrome, cystinuria, DOORS syndrome, high myopia-sensorineural deafness syndrome, dermochondrocorneal dystrophy, nephrogenic diabetes insipidus-intracranial calcification syndrome, diverticulosis of bowel, hernia, and retinal detachment, Dyggve-Melchior-Clausen disease, cerebellar ataxia, intellectual disability, and dysequilibrium, ectrodactyly-polydactyly syndrome, Bonnemann-Meinecke-Reich syndrome, epidermolysis bullosa simplex 5B, with muscular dystrophy, Wolcott-Rallison syndrome, ermine phenotype, eyebrow duplication-syndactyly syndrome, Fanconi-like syndrome, gingival fibromatosis-facial dysmorphism syndrome, frontofacionasal dysplasia, Fryns syndrome, German syndrome, Bernard-Soulier syndrome, triple-A syndrome, Grubben-de Cock-Borghgraef syndrome, mullerian derivatives-lymphangiectasia-polydactyly syndrome, Hirschsprung disease-hearing loss-polydactyly syndrome, Hirschsprung disease-nail hypoplasia-dysmorphism syndrome, Holzgreve-Wagner-Rehder syndrome, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, growth delay-hydrocephaly-lung hypoplasia syndrome, Dubin-Johnson syndrome, ornithine translocase deficiency, acrofrontofacionasal dysostosis 2, hypertrichotic osteochondrodysplasia Cantu type, hypergonadotropic hypogonadism-cataract syndrome, primary hypergonadotropic hypogonadism-partial alopecia syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, hypospadias-intellectual disability, Goldblatt type syndrome, Bamforth-Lazarus syndrome, ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome, ichthyosis-intellectual disability-dwarfism-renal impairment syndrome, Vici syndrome, channelopathy-associated congenital insensitivity to pain, autosomal recessive, Joubert syndrome with oculorenal defect, oculocerebrofacial syndrome, Kaufman type, Landau-Kleffner syndrome, laryngo-onycho-cutaneous syndrome, Laurence-Moon syndrome, Donohue syndrome, Miller-Dieker lissencephaly syndrome, Marinesco-Sjogren syndrome, Frank-Ter Haar syndrome, Mietens syndrome, mesomelic dwarfism-cleft palate-camptodactyly syndrome, metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, metaphyseal dysostosis-intellectual disability-conductive deafness syndrome, microcephalic primordial dwarfism, Toriello type, Say-Barber-Miller syndrome, microcephaly and chorioretinopathy 1, Galloway-Mowat syndrome, microtia with meatal atresia and conductive deafness, mucopolysaccharidosis type 6, mulibrey nanism, lethal multiple pterygium syndrome, lethal congenital contracture syndrome 1, Schwartz-Jampel syndrome, Nathalie syndrome, nephronophthisis 1, nephropathy - deafness - hyperparathyroidism syndrome, nephrosis-deafness-urinary tract-digital malformations syndrome, Netherton syndrome, Norman-Roberts syndrome, cloacal exstrophy, ichthyosis-oral and digital anomalies syndrome, Primrose syndrome, familial osteodysplasia, Anderson type, multicentric osteolysis, nodulosis, and arthropathy, osteopenia-intellectual disability-sparse hair syndrome, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, Parana hard-skin syndrome, PEHO syndrome, Imerslund-Grasbeck syndrome, Peters plus syndrome, pili torti-developmental delay-neurological abnormalities syndrome, Rabson-Mendenhall syndrome, postaxial acrofacial dysostosis, Gitelman syndrome, Wiedemann-Rautenstrauch syndrome, Acrootoocular syndrome, holoprosencephaly-postaxial polydactyly syndrome, autosomal recessive multiple pterygium syndrome, Perlman syndrome, retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome, EEC syndrome, SHORT syndrome, Sjogren syndrome, spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome, corneal-cerebellar syndrome, spastic ataxia-corneal dystrophy syndrome, spondylocostal dysostosis-anal and genitourinary malformations syndrome, familial infantile bilateral striatal necrosis, subaortic stenosis-short stature syndrome, thrombocytopenia-absent radius syndrome, thyrocerebrorenal syndrome, Pendred syndrome, VACTERL with hydrocephalus, Weaver syndrome, Werner syndrome, Wernicke-Korsakoff syndrome, wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome, de Sanctis-Cacchione syndrome, corpus callosum agenesis-abnormal genitalia syndrome, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, X-linked lissencephaly with abnormal genitalia, X-linked myotubular myopathy-abnormal genitalia syndrome, Christianson syndrome, Armfield syndrome, Lesch-Nyhan syndrome, Atkin-Flaitz syndrome, alpha-thalassemia-myelodysplastic syndrome, deafness-intellectual disability, Martin-Probst type syndrome, fragile X-associated tremor/ataxia syndrome, fragile X syndrome, syndactyly-telecanthus-anogenital and renal malformations syndrome, X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked central congenital hypothyroidism with late-onset testicular enlargement, Meester-Loeys syndrome, Arts syndrome, X-linked mandibulofacial dysostosis, Abruzzo-Erickson syndrome, Aicardi syndrome, craniofrontonasal syndrome, deafness-hypogonadism syndrome, X-linked corneal dermoid, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, hydrocephaly-cerebellar agenesis syndrome, keratosis follicularis-dwarfism-cerebral atrophy syndrome, laryngeal abductor paralysis-intellectual disability syndrome, oculocerebrorenal syndrome, Menkes disease, paraplegia-intellectual disability-hyperkeratosis syndrome, mucopolysaccharidosis type 2, orofaciodigital syndrome I, otopalatodigital syndrome type 1, Pallister-W syndrome, Rett syndrome, SCARF syndrome, Simpson-Golabi-Behmel syndrome, torticollis-keloids-cryptorchidism-renal dysplasia syndrome, trigonocephaly-short stature-developmental delay syndrome, ulnar hypoplasia-split foot syndrome, van den Bosch syndrome, Wildervanck syndrome, Kearns-Sayre syndrome, MELAS syndrome, MERRF syndrome, Pearson syndrome, proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome, pancreatic hypoplasia-diabetes-congenital heart disease syndrome, chondrodysplasia-pseudohermaphroditism syndrome, Qazi Markouizos syndrome, familial developmental dysphasia, atrioventricular defect-blepharophimosis-radial and anal defect syndrome, CODAS syndrome, lethal hemolytic anemia-genital anomalies syndrome, HEC syndrome, anophthalmia plus syndrome, infundibulopelvic stenosis-multicystic kidney syndrome, Ayme-Gripp syndrome, dilated cardiomyopathy 1E, diaphragmatic defect-limb deficiency-skull defect syndrome, skeletal dysplasia-epilepsy-short stature syndrome, Potocki-Shaffer syndrome, amelia cleft lip palate hydrocephalus iris coloboma, human HOXA1 syndromes, dyssegmental dysplasia-glaucoma syndrome, lung agenesis-heart defect-thumb anomalies syndrome, tetrasomy 12p, chromosome 18q deletion syndrome, lymphedema-atrial septal defects-facial changes syndrome, infantile convulsions and choreoathetosis, RHYNS syndrome, Pierre Robin sequence with pectus excavatum and rib and scapular anomalies, colobomatous macrophthalmia-microcornea syndrome, Marshall-Smith syndrome, distal monosomy 13q, MPI-congenital disorder of glycosylation, camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye, radioulnar synostosis-microcephaly-scoliosis syndrome, blepharophimosis - intellectual disability syndrome, SBBYS type, complex regional pain syndrome type 1, temtamy preaxial brachydactyly syndrome, Diamond-Blackfan anemia 2, genitopatellar syndrome, Phelan-McDermid syndrome, hypotonia-cystinuria syndrome, DNA ligase IV deficiency, Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome, Duane-radial ray syndrome, psoriatic arthritis, neonatal ichthyosis-sclerosing cholangitis syndrome, skin fragility-woolly hair-palmoplantar keratoderma syndrome, tubulointerstitial nephritis and uveitis syndrome, caudal duplication, sweet syndrome, ichthyosis prematurity syndrome, Meacham syndrome, BNAR syndrome, PCWH syndrome, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MEDNIK syndrome, Cerebrorenodigital syndrome, fetal valproate syndrome, Goldberg-Shprintzen syndrome, Al-Gazali syndrome, CEDNIK syndrome, osteosclerosis-ichthyosis-premature ovarian failure syndrome, cortical dysplasia-focal epilepsy syndrome, DK1-congenital disorder of glycosylation, Potocki-Lupski syndrome, Pitt-Hopkins syndrome, XFE progeroid syndrome, deafness-infertility syndrome, COG1-congenital disorder of glycosylation, autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome, mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, ANE syndrome, CLOVES syndrome, Hirschsprung disease-ganglioneuroblastoma syndrome, parkinsonism-dystonia, infantile, alpha 1-antitrypsin deficiency, COG5-congenital disorder of glycosylation, chromosome 13q14 deletion syndrome, deafness-lymphedema-leukemia syndrome, microcephaly-capillary malformation syndrome, EDICT syndrome, peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, IMAGe syndrome, short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, microcephalic primordial dwarfism, Alazami type, intellectual disability-strabismus syndrome, estrogen resistance syndrome, Hartsfield-Bixler-Demyer syndrome, severe dermatitis-multiple allergies-metabolic wasting syndrome, alacrima, achalasia, and intellectual disability syndrome, familial episodic pain syndrome with predominantly lower limb involvement, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, tall stature-scoliosis-macrodactyly of the great toes syndrome, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, polyendocrine-polyneuropathy syndrome, chronic atrial and intestinal dysrhythmia, motor developmental delay due to 14q32.2 paternally expressed gene defect, peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, mandibulofacial dysostosis with alopecia, epilepsy with myoclonic atonic seizures, short stature, microcephaly, and endocrine dysfunction, progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, PMP22-RAI1 contiguous gene duplication syndrome, acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome, macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Luscan-Lumish syndrome, even-plus syndrome, MIRAGE syndrome, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, intellectual disability-epilepsy-extrapyramidal syndrome, 48,XXYY syndrome, FRAXF syndrome, complex hereditary spastic paraplegia, aniridia-ptosis-intellectual disability-familial obesity syndrome, aniridia - intellectual disability syndrome, ankyloblepharon filiforme-imperforate anus syndrome, pentasomy X, Bardet-Biedl syndrome, anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome, Bartter syndrome, arachnodactyly-intellectual disability-dysmorphism syndrome, ataxia-photosensitivity-short stature syndrome, Brugada syndrome, Feingold syndrome, cardiomyopathy-cataract-hip spine disease syndrome, cataract - microcornea syndrome, autism-facial port-wine stain syndrome, cataract-intellectual disability-anal atresia-urinary defects syndrome, cataract-deafness-hypogonadism syndrome, syndromic craniosynostosis, drug rash with eosinophilia and systemic symptoms, multicentric reticulohistiocytosis, hereditary sensory and autonomic neuropathy with deafness and global delay, craniofacial microsomia, ring chromosome 10, Coffin-Siris syndrome, corpus callosum agenesis-double urinary collecting system syndrome, short rib-polydactyly syndrome, oromandibular-limb anomalies syndrome, hemophagocytic syndrome, cataract-glaucoma syndrome, diencephalic syndrome, hypereosinophilic syndrome, distal trisomy 14q, intellectual disability-cataracts-kyphosis syndrome, progressive familial intrahepatic cholestasis, thoraco-abdominal enteric duplication, oculomaxillofacial dysostosis, growth hormone insensitivity syndrome, syndromic dyslipidemia, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, epiphyseal dysplasia-hearing loss-dysmorphism syndrome, eosinophilic granulomatosis with polyangiitis, axial mesodermal dysplasia spectrum, fetal hydantoin syndrome, vitamin K-antagonist embryofetopathy, fetal alcohol syndrome, methimazole embryofetopathy, Evans syndrome, Cornelia de Lange syndrome, cleft lip-retinopathy syndrome, cleft lip/palate-deafness-sacral lipoma syndrome, Crandall syndrome, syndromic microphthalmia, Cole-Carpenter syndrome, myotonic syndrome, Guillain-Barre syndrome, atypical hemolytic-uremic syndrome, Hennekam syndrome, Hernández-Aguirre Negrete syndrome, nodular neuronal heterotopia, Hirschsprung disease-type D brachydactyly syndrome, holoprosencephaly, hydrocephalus-obesity-hypogonadism syndrome, hydrocephalus-blue sclerae-nephropathy syndrome, xeroderma pigmentosum-Cockayne syndrome complex, Joubert syndrome with ocular defect, hypogonadism-mitral valve prolapse-intellectual disability syndrome, hypogonadotropic hypogonadism-retinitis pigmentosa syndrome, hypotrichosis-intellectual disability, Lopes type, congenital ichthyosis-microcephalus-tetraplegia syndrome, Hughes-Stovin syndrome, heart-hand syndrome, ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome, syndromic agammaglobulinemia, isotretinoin syndrome, microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome, Kabuki syndrome, Kenny-Caffey syndrome, muscular pseudohypertrophy-hypothyroidism syndrome, Kousseff syndrome, limb body wall complex, Lennox-Gastaut syndrome, Lowe-Kohn-Cohen syndrome, macrocephaly-short stature-paraplegia syndrome, primary ciliary dyskinesia, familial intestinal malrotation-facial anomalies syndrome, primary hypertrophic osteoarthropathy, Melhem-Fahl syndrome, lower limb deficiency-hypospadias syndrome, 8p23.1 microdeletion syndrome, sickle cell-beta-thalassemia disease syndrome, sickle cell-hemoglobin c disease syndrome, sickle cell-hemoglobin d disease syndrome, sickle cell-hemoglobin E disease syndrome, hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, microcephaly-brain defect-spasticity-hypernatremia syndrome, microcephaly-microcornea syndrome, Seemanova type, Meier-Gorlin syndrome, Mikati-Najjar-Sahli syndrome, shoulder and girdle defects-familial intellectual disability syndrome, myopathy-growth delay-intellectual disability-hypospadias syndrome, Fuchs heterochromic iridocyclitis, microcephalic osteodysplastic primordial dwarfism types I and III, osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome, arthrogryposis-renal dysfunction-cholestasis syndrome, oculo-skeletal-renal syndrome, olivopontocerebellar atrophy-deafness syndrome, Opitz G/BBB syndrome, imperforate oropharynx-costo vetebral anomalies syndrome, Bruck syndrome, osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome, calciphylaxis, recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome, X-linked ichthyosis syndrome, autoimmune polyendocrinopathy, renal caliceal diverticuli-deafness syndrome, tempi syndrome, syndromic oculocutaneous albinism, short stature-deafness-neutrophil dysfunction-dysmorphism syndrome, congenital varicella syndrome, polyneuropathy-intellectual disability-acromicria-premature menopause syndrome, celiac trunk compression syndrome, hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, fetal cytomegalovirus syndrome, Reunion island Larsen syndrome, 46,XX disorder of sex development-anorectal anomalies syndrome, mitochondrial neurogastrointestinal encephalomyopathy, Baraitser-Winter cerebrofrontofacial syndrome, mirror polydactyly-vertebral segmentation-limbs defects syndrome, intellectual disability-hypotonia-skin hyperpigmentation syndrome, congenital hereditary facial paralysis-variable hearing loss syndrome, intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome, Mayer-Rokitansky-Kuster-Hauser syndrome, developmental and speech delay due to SOX5 deficiency, Spigelian hernia-cryptorchidism syndrome, autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome, severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, multiple sclerosis-ichthyosis-factor VIII deficiency syndrome, X-linked spasticity-intellectual disability-epilepsy syndrome, spina bifida-hypospadias syndrome, hantavirus pulmonary syndrome, white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome, deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome, hearing loss-familial salivary gland insensitivity to aldosterone syndrome, multiple synostoses syndrome, central nervous system calcification-deafness-tubular acidosis-anemia syndrome, multiple paragangliomas associated with polycythemia, syngnathia multiple anomalies, Takayasu arteritis, severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, spondylocostal dysostosis-hypospadias-intellectual disability syndrome, hypotrichosis-deafness syndrome, thalidomide embryopathy, trisomy X, trisomy 13, trisomy 18, umbilical cord ulceration-intestinal atresia syndrome, microcephaly-brachydactyly-kyphoscoliosis syndrome, Waardenburg syndrome, Weill-Marchesani syndrome, infantile spasms, Wolfram syndrome, epidermal nevus syndrome, digital anomalies-intellectual disability-short stature syndrome, intellectual disability-obesity-brain malformations-facial dysmorphism syndrome, Erdheim-Chester disease, Stevens-Johnson syndrome, CADDS, finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome, ataxia - telangiectasia variant, growth retardation-mild developmental delay-chronic hepatitis syndrome, primary microcephaly-mild intellectual disability-young-onset diabetes syndrome, ferro-cerebro-cutaneous syndrome, dystonia-aphonia syndrome, microcephaly-complex motor and sensory axonal neuropathy syndrome, X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome, severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome, intrauterine growth restriction-short stature-early adult-onset diabetes syndrome, pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa, familial chylomicronemia syndrome, caudal regression-sirenomelia spectrum, visceral heterotaxy, Holmes-Adie syndrome, microcephalic primordial dwarfism due to RTTN deficiency, Joubert syndrome, congenital generalized hypercontractile muscle stiffness syndrome, Kallmann syndrome, Caroli syndrome, X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability, microlissencephaly-micromelia syndrome, branchiootic syndrome, Plummer-Vinson syndrome, Cushing syndrome, McCune-Albright syndrome, Meckel syndrome, SUNCT syndrome, mucopolysaccharidosis type 3, mucopolysaccharidosis type 4, congenital myasthenic syndrome, Loeys-Dietz syndrome, Alport syndrome, schisis association, Tolosa-Hunt syndrome, iridocorneal endothelial syndrome, Noonan syndrome, short fifth metacarpals-insulin resistance syndrome, progressive supranuclear palsy, benign exophthalmos syndrome, Sandifer syndrome, global developmental delay-osteopenia-ectodermal defect syndrome, tubular renal disease-cardiomyopathy syndrome, angioosteohypotrophic syndrome, 6q terminal deletion syndrome, Axenfeld-Rieger syndrome, peroxisome biogenesis disorder, ectodermal dysplasia syndrome, Seckel syndrome, Sotos syndrome, Stickler syndrome, pelvis syndrome, Susac syndrome, ischio-vertebral syndrome, BRESEK syndrome, Turner syndrome, Usher syndrome, obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome, CREST syndrome, Sheehan syndrome, polymyalgia rheumatica, autoinflammatory syndrome, neuroleptic malignant syndrome, pituitary stalk interruption syndrome, monosomy 13q34, ring chromosome 13, 48,XXXY syndrome, 49,XXXXY syndrome, hereditary continuous muscle fiber activity, Eisenmenger syndrome, Robinow syndrome, Ehlers-Danlos syndrome, hypoplastic right heart syndrome, shone complex, 48,XYYY syndrome, subcortical band heterotopia, complex regional pain syndrome type 2, faciodigitogenital syndrome, neoplastic syndrome, paraneoplastic syndrome, post-infectious syndrome, Achard-Thiers syndrome, acral dysostosis dyserythropoiesis syndrome, agnathia-microstomia-synotia, Aksu von Stockhausen syndrome, Aloi Tomasini Isaia syndrome, temporomandibular joint dysfunction syndrome, Apert-like polydactyly syndrome, arakawa syndrome 2, arena syndrome, Arnold stickler bourne syndrome, baetz-greenwalt syndrome, bagatelle Cassidy syndrome, baker Vinters syndrome, bobble-head doll syndrome, Boerhaave syndrome, Cantu Sanchez-Corona Fragoso syndrome, Cantu Sanchez-Corona Hernandez syndrome, carbon baby syndrome, Carnevale hernandez castillo syndrome, Cartwright Nelson Fryns syndrome, Charles bonnet syndrome, Parinaud syndrome, corticobasal degeneration disorder, hair defect with photosensitivity and intellectual disability syndrome, AIDS dysmorphic syndrome, congenital acardia, acute lymphoblastic leukemia congenital sporadic aniridia, aglossia and situs inversus, agyria pachygyria polymicrogyria, agyria-pachygyria type 1, Ahumada Del Castillo syndrome, alopecia congenita keratosis palmoplantaris, alpha-mannosidosis type 1, aluminosis, Mauriac syndrome, ankle defects short stature, ankyloblepharon filiforme imperforate anus, annular constricting bands, anophthalmia cleft palate micrognathia, anophthalmia esophageal atresia cryptorchidism, anotia facial palsy cardiac defect, aortic dissection lentiginosis, childhood aortic valve stenosis, arthrogryposis IUGR thoracic dystrophy, arthrogryposis multiplex congenita CNS calcification, arthrogryposis spinal muscular atrophy, asternia, atlanto-axial fusion, atrophoderma of Pierini and Pasini, Barnicoat Baraitser syndrome, Basedow’s coma, BD syndrome, Beardwell syndrome, bhaskar jagannathan syndrome, bidirectional tachycardia, bilirubin induced brain injury in the newborn, blepharo naso facial syndrome van Maldergem type, bone dysplasia corpus callosum agenesis, brachydactyly absence of distal phalanges, brachydactyly anonychia, brachydactyly small stature face anomalies, brachydactyly tibial hypoplasia, brittle bone syndrome lethal type, bronchiectasis oligospermia, Brunsting-Perry syndrome, bruyn scheltens syndrome, burn goodship syndrome, camptodactyly joint contractures and facial skeletal dysplasia, camptodactyly vertebral fusion, Cantu Sanchez-Corona Garcia-Cruz syndrome, cardiac hydatid cysts with intracavitary expansion, cardioencephalomyopathy, cardiofacial syndrome short limbs, cardiomelic syndrome stratton Koehler type, cardiomyopathy and deafness due to tRNA lysine gene mutation, cardiomyopathy diabetes deafness, cardiomyopathy hypogonadism collagenoma syndrome, cardiomyopathy hypogonadism metabolic anomalies, cardiomyopathy spherocytosis, carpo tarsal osteolysis recessive, autosomal dominant cataract, cataract skeletal anomalies, cennamo gangemi syndrome, cerebellar agenesis, cerebello-olivary atrophy, cerebral calcification cerebellar hypoplasia, cerebral calcifications opalescent teeth phosphaturia, oculo digital syndrome, chondrodysplasia, choreoacanthocytosis amyotrophic, chorioretinopathy dominant form microcephaly, Christian Demyer Franken syndrome, Christian Johnson angenieta syndrome, chromosome 3 duplication syndrome, chronic demyelinizing neuropathy with IgM monoclonal, ciliary dyskinesia-bronchiectasis, circumscribed cutaneous aplasia of the vertex, circumscribed disseminated keratosis Jadassohn lew type, cleft lip and palate malrotation cardiopathy, cleft lip and/or palate with mucous cysts of lower, cleft lip palate dysmorphism kumar type, cleft lip palate intellectual disability corneal opacity, cleft lip palate oligodontia syndactyly pili torti, cleft lip palate pituitary deficiency, cleft lip palate-tetraphocomelia, cleft lower lip cleft lateral canthi chorioretinal, cleft palate cardiac defect ectrodactyly, cleft palate colobomata radial synostosis deafness, cleft palate heart disease polydactyly absent tibia, cleft tongue, coarse face hypotonia constipation, Cohen Lockood Wyborney syndrome, type 2 collagenopathy, Collins-Sakati syndrome, coloboma porencephaly hydronephrosis, colobomata unilobar lung heart defect, colonic malakoplakia, Colver Steer Godman syndrome, Combarros Calleja Leno syndrome, complement receptor deficiency, congenital absence of the sternocleidomastoid muscle, congenital amputation, congenital aneurysms of the great vessels, congenital articular rigidity, congenital benign spinal muscular atrophy dominant, congenital cardiovascular shunt, congenital contractures, congenital craniosynostosis maternal hyperthyroiditis, congenital cystic eye, congenital heart disease ptosis hypodontia craniostosis, congenital heart disease radio ulnar synostosis intellectual disability, congenital mumps, congenital stenosis of cervical medullary canal, Dennis-Fairhurst-Moore syndrome, congenital unilateral pulmonary hypoplasia, congenital vagal hyperreflexivity, Cormier Rustin Munnich syndrome, corneal crystals myopathy neuropathy, corneal dystrophy ichthyosis microcephaly intellectual disability, corneal dystrophy pigmentary anomaly malabsorption, corpus callosum agenesis of blepharophimosis robin type, corpus callosum dysgenesis X-linked recessive, corpus callosum dysgenesis cleft spasm, corpus callosum dysgenesis hypopituitarism, cortada Koussef Matsumoto syndrome, Cortes Lacassie syndrome, craniofacial and skeletal defects, craniofacial dysostosis arthrogryposis progeroid appearance, craniofrontonasal syndrome Teebi type, craniostenosis with congenital heart disease intellectual disability, crawfurd syndrome, cutis gyratum acanthosis nigricans craniosynostosis, cutis laxa osteoporosis, Davenport-Donlan syndrome, Davis Lafer syndrome, de Hauwere Leroy adriaenssens syndrome, deafness conductive stapedial ear malformation facial palsy, deafness goiter stippled epiphyses, deafness hypospadias metacarpal and metatarsal syndrome, deafness mesenteric diverticula of small bowel neuropathy, deafness peripheral neuropathy arterial disease, deafness progressive cataract autosomal dominant, dermatocardioskeletal syndrome boronne type, dextrocardia with situs inversus, diabetes persistent mullerian ducts, diaphragmatic agenesis radial aplasia omphalocele, diaphragmatic hernia exomphalos corpus callosum agenesis, diaphragmatic hernia upper limb defects, die Smulders droog van dijk syndrome, diomedi bernardi placidi syndrome, diphallus rachischisis imperforate anus, distichiasis heart congenital anomalies, double discordia, double uterus-hemivagina-renal agenesis, Drachtman Weinblatt Sitarz syndrome, Duker-Weiss-Siber syndrome, duodenal atresia tetralogy of fallot, duplication of leg mirror foot, duplication of the thumb unilateral biphalangeal, dupont sellier chochillon syndrome, dwarfism bluish sclerae, dwarfism deafness retinitis pigmentosa, dwarfism lethal type advanced bone age, dwarfism thin bones multiple fractures, dysmorphism cleft palate loose skin, Eagle syndrome, ectrodactyly cardiopathy dysmorphism, Elliott ludman Teebi syndrome, enamel hypoplasia cataract hydrocephaly, encephalocele anencephaly, enchondromatosis dwarfism deafness, Engelhard Yatziv syndrome, enlarged vestibular aqueduct syndrome, epidermal nevus vitamin D resistant rickets, epimetaphyseal dysplasia cataract, epiphyseal dysplasia dysmorphism camptodactyly, esophageal atresia coloboma talipes, extrasystoles short stature hyperpigmentation microcephaly, facial clefting corpus callosum agenesis, facio digito genital syndrome recessive form, facio skeletal genital syndrome rippberger type, familial capillaro-venous leptomeningeal angiomatosis, Dursun syndrome, Faye-Petersen-Ward-Carey syndrome, feigenbaum Bergeron syndrome, Feingold trainer syndrome, fetal brain disruption sequence, fetal enterovirus syndrome, fetal parainfluenza virus type 3 syndrome, fetal phenothiazine syndrome, fibromatosis multiple non ossifying, fibula aplasia complex brachydactyly, fibular hypoplasia scapulo pelvic dysplasia absent, Fitz-Hugh-Curtis syndrome, focal alopecia congenital megalencephaly, focal or multifocal malformations in neuronal migration, foix chavany Marie syndrome, Fontaine farriaux blanckaert syndrome, Fraser Jequier Chen syndrome, Freiberg disease, Friedman Goodman syndrome, frontonasal malformation cloacal exstrophy, frontonasal dysplasia Klippel feil syndrome, frontonasal dysplasia phocomelic upper limbs, Fryns Fabry Remans syndrome, Fryns Smeets Thiry syndrome, Fuchs atrophia gyrata chorioideae et retinae, Fukuda-Miyanomae-Nakata syndrome, Fuqua Berkovitz syndrome, Garret-Tripp syndrome, gas bloat syndrome, Gaucher ichthyosis restrictive dermopathy, gershinibaruch Leibo syndrome, Ghose-Sachdev-Kumar syndrome, gigantism advanced bone age hoarse cry, glossopalatine ankylosis micrognathia ear anomalies, goldstein hutt syndrome, goniodysgenesis intellectual disability short stature, green sandford davison syndrome, grix Blankenship Peterson syndrome, Ho-Kaufman-McAlister syndrome, Jaffer-Beighton syndrome, Judge Misch wright syndrome, Kashani-Strom-Utley syndrome, Kasznica-Carlson-Coppedge syndrome, Katsantoni-Papadakou-Lagoyanni syndrome, Kocher-debre-Semelaigne syndrome, Koone-Rizzo-Elias syndrome, Kozlowski Brown Hardwick syndrome, Kozlowski Ouvrier syndrome, Kozlowski Rafinski Klicharska syndrome, Kozlowski Warren Fisher syndrome, Krauss Herman Holmes syndrome, Krieble Bixler syndrome, Kuster Majewski Hammerstein syndrome, Kuster syndrome, Laugier-Hunziker syndrome, Laurence-Prosser-Rocker syndrome, le Marec-Bracq-Picaud syndrome, levator syndrome, Marinesco-Sjogren-like syndrome, Milner-Khallouf-Gibson syndrome, radio-digito-facial dysplasia, Seckel like syndrome majoor-krakauer type, neonatal aspiration syndrome, muscular fibrosis multifocal obstructed vessels, short stature contractures hypotonia, Alice in Wonderland syndrome, megacystis-microcolon-intestinal hypoperistalsis syndrome, Basilicata-Akhtar syndrome, Liberfarb syndrome, craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome, cardiac, facial, and digital anomalies with developmental delay, fibrosis, neurodegeneration, and cerebral angiomatosis, Duane anomaly-myopathy-scoliosis syndrome, congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome, infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, acute radiation syndrome, monoclonal mast cell activation syndrome, oculocerebrodental syndrome, syndromic congenital sodium diarrhea, congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome, intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome, frontonasal dysplasia-bifid nose-upper limb anomalies syndrome, microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome, diaphragmatic hernia-short bowel-asplenia syndrome, warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome, Cramp-fasciculation syndrome, choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome, CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome, cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome, KLHL7-related Bohring-Opitz-like syndrome, KLHL7-related cold-induced sweating-like syndrome, KAT6B-related multiple congenital anomalies syndrome, oculogastrointestinal-neurodevelopmental syndrome, spastic paraparesis-cataracts-speech delay syndrome, Ruzicka-Goerz-Anton syndrome, Sammartino-Decreccio syndrome, Samson-Gardner syndrome, Samson-Viljoen syndrome, Sanderson-Fraser syndrome, Sandhaus-Ben-Ami syndrome, prostatic malacoplakia associated with prostatic abscess, Saul-Wilkes-Stevenson syndrome, macrogyria, pseudobulbar palsy and intellectual disability, Schwartz-Cohen-addad-Lambert syndrome, Schlegelberger-Grote syndrome, Schrander-stumpel-Theunissen-Hulsmans syndrome, Saal-Bulas syndrome, Sackey-Sakati-Aur syndrome, Slti-Salem syndrome, Zerres Rietschel Majewski syndrome, Zazam Sheriff Phillips syndrome, Zadik-Barak-Levin syndrome, weinstein kliman scully syndrome, thickened earlobes with conductive deafness from incus-stapes abnormalities, ichthyosis linearis circumflexa, infantile striato thalamic degeneration, Landy-Donnai syndrome, merlob grunebaum reisner syndrome, Pavone Fiumara Rizzo syndrome, pfeiffer rockelein syndrome, Pfeiffer Tietze Welte syndrome, phosphoribosylpyrophosphate synthetase deficiency, piepkorn karp hickok syndrome, podder-tolmie syndrome, pointer syndrome, richieri-costa guion-almeida cohen syndrome, Rubinstein Taybi like syndrome, ruvalcaba churesigaew myhre syndrome, short limb dwarf lethal colavita kozlowski type, Mallory-Weiss syndrome, superior vena cava syndrome, piriformis syndrome, engraftment syndrome, Adams-Stokes syndrome, Leriche syndrome, multiple organ dysfunction syndrome, posterior leukoencephalopathy syndrome, cardio-renal syndrome, Rahman syndrome, X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome, retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, Lopes-Maciel-Rodan syndrome, Stankiewicz-Isidor syndrome, Skraban-Deardorff syndrome, joint laxity, short stature, and myopia, Sweeney-Cox syndrome, Alkuraya-Kucinskas syndrome, Jaberi-Elahi syndrome, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, hearing impairment and infertile male syndrome, cardiocutaneous syndrome, neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts, cardioectodermal syndrome, cannabinoid hyperemesis syndrome, retrograde cricopharyngeus dysfunction, Zinner syndrome, retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome, IFAP syndrome, DICER1-related tumor predisposition, Roberts-SC phocomelia syndrome, carcinoid syndrome, Bonnevie-Ullrich syndrome, NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, RNU4ATAC spectrum disorder, syndromic congenital heart disease, hand-foot syndrome, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, gastrointestinal defects and immunodeficiency syndrome 1, achalasia-alacrima syndrome, black locks with albinism and deafness syndrome, Birt-Hogg-Dube syndrome, trigeminal trophic syndrome, developmental and/or epileptic encephalopathy with spike-wave activation in sleep, syndromic microspherophakia, painful legs and moving toes syndrome, congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome, hereditary persistence of fetal hemoglobin-intellectual disability syndrome, developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome, primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome, post-cardiac arrest syndrome, early-onset obesity-hyperphagia-severe developmental delay syndrome, hereditary alpha tryptasemia syndrome, KINSSHIP syndrome, developmental delay, hypotrophy, and dysmorphic features without moebius syndrome, breast implant illness, cataracts, hearing impairment, nephrotic syndrome, and enterocolitis, craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome, MYT1L-related developmental delay-intellectual disability-obesity syndrome, Houge-Janssens syndrome, xerosis and growth failure with immune and pulmonary dysfunction syndrome, Fliedner-Zweier syndrome, Lui-Jee-Baron syndrome, Long-Olsen-Distelmaier syndrome, Tan-Almurshedi syndrome, diabetes, deafness, developmental delay, and short stature syndrome, Alfadhel syndrome, Hoxha-Aliu syndrome, cleft palate-congenital heart defect-intellectual disability syndrome, congenital insensitivity to pain syndrome, Marsili type, Yuksel-Vogel-Bauer syndrome, polydactyly-macrocephaly syndrome, pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome, psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome, megalencephaly-polydactyly syndrome, Leigh syndrome, mitochondrial, auroneurodental syndrome, orofacial clefting-cardiac anomalies-facial dysmorphism syndrome, Grisel syndrome, arterial tortuosity-bone fragility syndrome, dialysis disequilibrium syndrome, brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation, Kariminejad neurodevelopmental syndrome, myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, brain malformation renal syndrome, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2, Karayol-Borroto-Haghshenas neurodevelopmental syndrome, neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, Morimoto-Ryu-Malicdan neuromuscular syndrome, neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, neurodevelopmental disorder with variable familial hypercholanemia, Pan-Chung-Bellen syndrome, telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature, Muggenthaler-Chowdhury-Chioza syndrome, Tayoun-Maawali syndrome, ragopathy, cardiovascular-kidney-metabolic syndrome, craniofaciocardiohepatic syndrome, FICUS syndrome, Li-Takada-Miyake syndrome, Guillouet-Gordon syndrome, ICHAD syndrome, cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome, RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome, oculovertebral syndrome, Alsahan-Harris syndrome, Ververi-Brady syndrome, Dursun-Ozgul neurodevelopmental syndrome, immune dysregulation, neurodevelopmental defects, and colitis, Harel-Tora neurodevelopmental syndrome, Valence-Farazi cerebellar ataxia syndrome, dyschromatosis, ichthyosis, deafness, and atopic disease, Ramond-Elliott neurodevelopmental syndrome, STAD syndrome, craniosynostosis-scoliosis syndrome, loin pain hematuria syndrome, IRF6-related condition, linkeropathy, NDUFB11-related disorders, CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder, TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy, antiphospholipid syndrome

Subtypes (4): familial nephrotic syndrome, idiopathic nephrotic syndrome, nephrotic syndrome ocular anomalies, steroid-resistant nephrotic syndrome

Genetics & variants

GWAS landscape

114 GWAS associations across 40 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1063355	5e-81	HLA-DQB1, HLA-DQB1-AS1	T	0.46
rs2856696	2e-68	HLA-DQB1 - MTCO3P1	T	2.8
rs2856665	2e-68	HLA-DQB1 - MTCO3P1	G	4.06
HLA_DQA1*02	3e-59		T	2.49
rs1794497	7e-52	HLA-DQB1 - MTCO3P1	C	2.04
rs28755181	3e-51	HLA-DQB1 - MTCO3P1	?	3.35
rs9271747	6e-51	HLA-DRB1 - HLA-DQA1	T	3.3
rs9273542	2e-43	HLA-DQB1	T	3.39
rs9274740	1e-39	HLA-DQB1 - MTCO3P1	A	0.41
rs9273479	1e-33	HLA-DQB1-AS1, HLA-DQB1	T	0.49
HLA-DQA1*02:01	1e-32		DQA1*02:01	3.42
HLA-DQA1*01	2e-31		DQA1*01
rs2858317	4e-31	HLA-DQB1 - MTCO3P1	?
HLA_DQA1*01	4e-29		T	0.53
rs2285450	7e-28	NPHS1	A	1.88
rs9271602	1e-27	HLA-DRB1 - HLA-DQA1	G	2.75
rs2637678	2e-27	CALHM6 - TRAPPC3L	T	1.74
rs412175	7e-25	NPHS1	T	0.53
rs1063348	9e-23	HLA-DQB1-AS1, HLA-DQB1	G	3.33
rs28366266	4e-20	HLA-DRB1 - HLA-DQA1	C	3.03
rs2256318	1e-17	MICA	A	1.49
rs1265889	2e-16	TNXB	A	0.52
rs2596485	2e-15	MICA-AS1	T	0.61
rs188468626	3e-14	ARID3B	A	3.54
rs3129713	4e-14	HLA-DQB1 - MTCO3P1	T	2.36
rs190789398	5e-14	DOCK8	C	2.9
rs7759971	1e-13	AHI1	T	1.34
rs2857607	1e-13	NFKBIL1	T	1.95
rs566884178	3e-13	HMG20A	C	2.5
rs4642516	7e-13	HLA-DQB1 - MTCO3P1	T	3.03

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90018664	Sakaue S	2021	1,314	177,412	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90269967	Barry A	2023	1,311	7,780	Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
GCST90651595	Liu TY	2025	1,208	202,534	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90269968	Barry A	2023	1,096	12,459	Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
GCST90478512	Verma A	2024	1,068	449,105	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST010731	Jia X	2020	987	3,206	Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
GCST90013716	Ishigaki K	2020	957	211,496	Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
GCST90018884	Sakaue S	2021	775	475,255	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90258619	Barry A	2023	674	6,817	Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
GCST90013752	Ishigaki K	2020	583	108,764	Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	3
Tier 3: regulatory	1
Tier 4: intronic/intergenic	45

MAF distribution

Bucket	Variants
common (>=0.05)	32
low_freq (0.01-0.05)	0
rare (<0.01)	15
unknown	3

Functional consequences

Consequence	Count
intron_variant	21
intergenic_variant	17
unknown	5
3_prime_UTR_variant	2
synonymous_variant	1
splice_polypyrimidine_tract_variant	1
non_coding_transcript_exon_variant	1
missense_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1063355	6	32659937	T>C,G	0.05	3_prime_UTR_variant	HLA-DQB1, HLA-DQB1-AS1	5e-81	Tier 2: splice/UTR
rs2856696	6	32684091	A>T	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	2e-68	Tier 4: intronic/intergenic
rs2856665	6	32697820	A>G,T	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	2e-68	Tier 4: intronic/intergenic
HLA_DQA1*02							3e-59	Tier 4: intronic/intergenic
rs1794497	6	32681403	T>C,G	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	7e-52	Tier 4: intronic/intergenic
rs28755181	6	32674236	C>A,T	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	3e-51	Tier 4: intronic/intergenic
rs9271747	6	32626037	T>C	0.05	intergenic_variant	HLA-DRB1 - HLA-DQA1	6e-51	Tier 4: intronic/intergenic
rs9273542	6	32661035	C>A,T	0.24	intron_variant	HLA-DQB1	2e-43	Tier 4: intronic/intergenic
rs9274740	6	32670191	A>T	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	1e-39	Tier 4: intronic/intergenic
rs9273479	6	32660316	T>C,G	0.05	intron_variant	HLA-DQB1-AS1, HLA-DQB1	1e-33	Tier 4: intronic/intergenic
HLA-DQA1*02:01				0.15			1e-32	Tier 4: intronic/intergenic
HLA-DQA1*01				0.38			2e-31	Tier 4: intronic/intergenic
rs2858317	6	32694503	C>A,T	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	4e-31	Tier 4: intronic/intergenic
HLA_DQA1*01							4e-29	Tier 4: intronic/intergenic
rs2285450	19	35851365	G>A	0.05	synonymous_variant	NPHS1	7e-28	Tier 4: intronic/intergenic
rs9271602	6	32623606	T>A,C,G	0.05	intergenic_variant	HLA-DRB1 - HLA-DQA1	1e-27	Tier 4: intronic/intergenic
rs2637678	6	116466215	T>C	0.05	intergenic_variant	CALHM6 - TRAPPC3L	2e-27	Tier 4: intronic/intergenic
rs412175	19	35851201	T>C	0.05	intron_variant	NPHS1	7e-25	Tier 4: intronic/intergenic
rs1063348	6	32660146	A>C,G,T	0.4	3_prime_UTR_variant	HLA-DQB1-AS1, HLA-DQB1	9e-23	Tier 2: splice/UTR
rs28366266	6	32591976	T>C	0.17	intergenic_variant	HLA-DRB1 - HLA-DQA1	4e-20	Tier 4: intronic/intergenic
rs2256318	6	31413742	G>A	0.05	intron_variant	MICA	1e-17	Tier 4: intronic/intergenic
rs1265889	6	32065839	G>A	0.05	intron_variant	TNXB	2e-16	Tier 4: intronic/intergenic
rs2596485	6	31397093	T>A,C	0.05	splice_polypyrimidine_tract_variant	MICA-AS1	2e-15	Tier 2: splice/UTR
rs188468626	15	74588259	A>G	0	intron_variant	ARID3B	3e-14	Tier 4: intronic/intergenic
rs3129713	6	32689478	C>T	0.21	intergenic_variant	HLA-DQB1 - MTCO3P1	4e-14	Tier 4: intronic/intergenic
rs190789398	9	277780	C>T	0.001	intron_variant	DOCK8	5e-14	Tier 4: intronic/intergenic
rs7759971	6	135425746	C>T	0.05	intron_variant	AHI1	1e-13	Tier 4: intronic/intergenic
rs2857607	6	31549471	C>T	0.05	intron_variant	NFKBIL1	1e-13	Tier 4: intronic/intergenic
rs566884178	15	77469913	C>A,T	0.001	intron_variant	HMG20A	3e-13	Tier 4: intronic/intergenic
rs4642516	6	32689766	G>A,T	0.27	non_coding_transcript_exon_variant	HLA-DQB1 - MTCO3P1	7e-13	Tier 4: intronic/intergenic

ClinVar germline variants

184 retrieved; paginated sample, class counts are floors:

56 likely pathogenic, 44 uncertain significance, 27 pathogenic/likely pathogenic, 26 conflicting classifications of pathogenicity, 25 pathogenic, 3 likely benign, 1 benign, 1 benign/likely benign, 1 vus-high

ClinVar	Variant (HGVS)	Gene	Classification	Review
140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
370718	NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)	AXDND1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
988248	NM_001127898.4(CLCN5):c.604-2A>G	CLCN5	Pathogenic	no assertion criteria provided
447178	NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)	COL4A4	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
24591	NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	COL4A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
934057	NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)	COL4A5	Pathogenic	criteria provided, single submitter
988185	NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)	COL4A5	Pathogenic	no assertion criteria provided
189020	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
39579	NM_003647.3(DGKE):c.610del (p.Thr204fs)	DGKE	Pathogenic	criteria provided, multiple submitters, no conflicts
1344883	NM_000169.3(GLA):c.504A>C (p.Lys168Asn)	GLA	Pathogenic	criteria provided, single submitter
35572	NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro)	ITGA3	Pathogenic/Likely pathogenic	no assertion criteria provided
56440	NM_004646.4(NPHS1):c.139del (p.Ala47fs)	KIRREL2	Pathogenic	criteria provided, multiple submitters, no conflicts
1344739	NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter)	LAMB2	Pathogenic	criteria provided, multiple submitters, no conflicts
14530	NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)	LAMB2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
974626	NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter)	LAMB2	Pathogenic	criteria provided, single submitter
498798	NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)	LMX1B	Pathogenic	criteria provided, multiple submitters, no conflicts
444889	NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe)	LOC107372315	Pathogenic	criteria provided, single submitter
3655	NM_018714.3(COG1):c.1070+5G>A	LOC126862634	Pathogenic	criteria provided, single submitter
1065992	NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188761	NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	NPHS1	Pathogenic	criteria provided, multiple submitters, no conflicts
370188	NM_004646.4(NPHS1):c.619del (p.Arg207fs)	NPHS1	Pathogenic	criteria provided, multiple submitters, no conflicts
56419	NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56438	NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56450	NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg)	NPHS1	Pathogenic	criteria provided, single submitter
56453	NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)	NPHS1	Pathogenic	criteria provided, multiple submitters, no conflicts
56469	NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56471	NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56481	NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56497	NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
56518	NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle)	NPHS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 21 · Orphanet: 108 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
DLC1	Strong	Autosomal recessive	nephrotic syndrome	3
ITSN1	Strong	Autosomal recessive	nephrotic syndrome	2
ITSN2	Strong	Autosomal recessive	nephrotic syndrome
PODXL	Strong	Autosomal dominant	nephrotic syndrome	5
TNS2	Strong	Autosomal recessive	nephrotic syndrome	2
KANK4	Moderate	Autosomal recessive	nephrotic syndrome
KANK1	Limited	Autosomal recessive	nephrotic syndrome	6
XPO5	Limited	Autosomal recessive	nephrotic syndrome

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ITSN1	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
PODXL	Orphanet:2828	Young-onset Parkinson disease
PODXL	Orphanet:391411	Atypical juvenile parkinsonism
KANK1	Orphanet:210141	Inherited congenital spastic tetraplegia
RUNX2	Orphanet:1452	Cleidocranial dysplasia
RUNX2	Orphanet:2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
SGPL1	Orphanet:506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
SMARCAL1	Orphanet:1830	Schimke immuno-osseous dysplasia
BTNL2	Orphanet:797	Sarcoidosis
TRPC6	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
WT1	Orphanet:220	Denys-Drash syndrome
WT1	Orphanet:242	46,XY complete gonadal dysgenesis
WT1	Orphanet:251510	46,XY partial gonadal dysgenesis
WT1	Orphanet:3097	Meacham syndrome
WT1	Orphanet:347	Frasier syndrome
WT1	Orphanet:654	Nephroblastoma
WT1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
WT1	Orphanet:83469	Desmoplastic small round cell tumor
WT1	Orphanet:893	WAGR syndrome
NPHS2	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
ANLN	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
AVIL	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
TP53RK	Orphanet:2065	Galloway-Mowat syndrome
ACTN4	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
PLCE1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
OSGEP	Orphanet:2065	Galloway-Mowat syndrome
COQ8B	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
COQ8B	Orphanet:791	Retinitis pigmentosa
CLCN5	Orphanet:93622	Dent disease type 1
COL4A3	Orphanet:653722	Digenic Alport syndrome
COL4A3	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
COL4A3	Orphanet:88918	Autosomal dominant Alport syndrome
COL4A3	Orphanet:88919	Autosomal recessive Alport syndrome
COL4A4	Orphanet:653722	Digenic Alport syndrome
COL4A4	Orphanet:88918	Autosomal dominant Alport syndrome
COL4A4	Orphanet:88919	Autosomal recessive Alport syndrome
COL4A5	Orphanet:1018	X-linked Alport syndrome-diffuse leiomyomatosis
COL4A5	Orphanet:653722	Digenic Alport syndrome
COL4A5	Orphanet:88917	X-linked Alport syndrome
DHTKD1	Orphanet:329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q
DHTKD1	Orphanet:79154	2-aminoadipic 2-oxoadipic aciduria
INF2	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
INF2	Orphanet:93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
TPRKB	Orphanet:2065	Galloway-Mowat syndrome
TBC1D8B	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
CTNS	Orphanet:411629	Infantile nephropathic cystinosis
CTNS	Orphanet:411634	Juvenile nephropathic cystinosis
CTNS	Orphanet:411641	Ocular cystinosis
COQ2	Orphanet:227510	Multiple system atrophy, cerebellar type
COQ2	Orphanet:98933	Multiple system atrophy, parkinsonian type

Cohort genes → proteins

74 cohort genes, 70 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	10
multi_evidence	64

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TNS2	HGNC:19737	ENSG00000111077	Q63HR2	Tensin-2	gencc,clinvar
KANK4	HGNC:27263	ENSG00000132854	Q5T7N3	KN motif and ankyrin repeat domain-containing protein 4	gencc,clinvar
ITSN1	HGNC:6183	ENSG00000205726	Q15811	Intersectin-1	gencc,clinvar
PODXL	HGNC:9171	ENSG00000128567	O00592	Podocalyxin	gencc,clinvar
XPO5	HGNC:17675	ENSG00000124571	Q9HAV4	Exportin-5	gencc
KANK1	HGNC:19309	ENSG00000107104	Q14678	KN motif and ankyrin repeat domain-containing protein 1	gencc
DLC1	HGNC:2897	ENSG00000164741	Q96QB1	Rho GTPase-activating protein 7	gencc
ITSN2	HGNC:6184	ENSG00000198399	Q9NZM3	Intersectin-2	gencc
RUNX2	HGNC:10472	ENSG00000124813	Q13950	Runt-related transcription factor 2	clinvar
SGPL1	HGNC:10817	ENSG00000166224	O95470	Sphingosine-1-phosphate lyase 1	clinvar
SMARCAL1	HGNC:11102	ENSG00000138375	Q9NZC9	SNF2 related chromatin remodeling annealing helicase 1	clinvar
BTNL2	HGNC:1142	ENSG00000204290	Q9UIR0	Butyrophilin-like protein 2	gwas
TRPC6	HGNC:12338	ENSG00000137672	Q9Y210	Short transient receptor potential channel 6	clinvar
WT1	HGNC:12796	ENSG00000184937	P19544	Wilms tumor protein	clinvar
NPHS2	HGNC:13394	ENSG00000116218	Q9NP85	Podocin	clinvar
ANLN	HGNC:14082	ENSG00000011426	Q9NQW6	Anillin	clinvar
AVIL	HGNC:14188	ENSG00000135407	O75366	Advillin	clinvar
TP53RK	HGNC:16197	ENSG00000172315	Q96S44	EKC/KEOPS complex subunit TP53RK	clinvar
ACTN4	HGNC:166	ENSG00000130402	O43707	Alpha-actinin-4	clinvar
PLCE1	HGNC:17175	ENSG00000138193	Q9P212	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	clinvar
OSGEP	HGNC:18028	ENSG00000092094	Q9NPF4	tRNA N6-adenosine threonylcarbamoyltransferase	clinvar
KIRREL2	HGNC:18816	ENSG00000126259	Q6UWL6	Kin of IRRE-like protein 2	clinvar
COQ8B	HGNC:19041	ENSG00000123815	Q96D53	Atypical kinase COQ8B, mitochondrial	clinvar
HCG23	HGNC:19713			HLA complex group 23	gwas
DDX53	HGNC:20083	ENSG00000184735	Q86TM3	Probable ATP-dependent RNA helicase DDX53	clinvar
CLCN5	HGNC:2023	ENSG00000171365	P51795	H(+)/Cl(-) exchange transporter 5	clinvar
SULF2	HGNC:20392	ENSG00000196562	Q8IWU5	Extracellular sulfatase Sulf-2	gwas
KCTD11	HGNC:21302	ENSG00000213859	Q693B1	BTB/POZ domain-containing protein KCTD11	clinvar
CDK20	HGNC:21420	ENSG00000156345	Q8IZL9	Cyclin-dependent kinase 20	clinvar
SLC35F1	HGNC:21483	ENSG00000196376	Q5T1Q4	Solute carrier family 35 member F1	clinvar
COL4A3	HGNC:2204	ENSG00000169031	Q01955	Collagen alpha-3(IV) chain	clinvar
COL4A4	HGNC:2206	ENSG00000081052	P53420	Collagen alpha-4(IV) chain	clinvar
COL4A5	HGNC:2207	ENSG00000188153	P29400	Collagen alpha-5(IV) chain	clinvar
PDSS2	HGNC:23041	ENSG00000164494	Q86YH6	All trans-polyprenyl-diphosphate synthase PDSS2	clinvar
DHTKD1	HGNC:23537	ENSG00000181192	Q96HY7	2-oxoadipate dehydrogenase complex component E1	clinvar
INF2	HGNC:23791	ENSG00000203485	Q27J81	Inverted formin-2	clinvar
TPRKB	HGNC:24259	ENSG00000144034	Q9Y3C4	EKC/KEOPS complex subunit TPRKB	clinvar
PARM1	HGNC:24536	ENSG00000169116	Q6UWI2	Prostate androgen-regulated mucin-like protein 1	gwas
TBC1D8B	HGNC:24715	ENSG00000133138	Q0IIM8	TBC1 domain family member 8B	clinvar
CTNS	HGNC:2518	ENSG00000040531	O60931	Cystinosin	clinvar
COQ2	HGNC:25223	ENSG00000173085	Q96H96	4-hydroxybenzoate polyprenyltransferase, mitochondrial	clinvar
ARHGAP24	HGNC:25361	ENSG00000138639	Q8N264	Rho GTPase-activating protein 24	clinvar
TTC21B	HGNC:25660	ENSG00000123607	Q7Z4L5	Tetratricopeptide repeat protein 21B	clinvar
WDR73	HGNC:25928	ENSG00000177082	Q6P4I2	Integrator complex assembly factor WDR73	clinvar
AXDND1	HGNC:26564	ENSG00000162779	Q5T1B0	Axonemal dynein light chain domain-containing protein 1	clinvar
DGKE	HGNC:2852	ENSG00000153933	P52429	Diacylglycerol kinase epsilon	clinvar
NUP93	HGNC:28958	ENSG00000102900	Q8N1F7	Nuclear pore complex protein Nup93	clinvar
SYNPO	HGNC:30672	ENSG00000171992	Q8N3V7	Synaptopodin	clinvar
PREX1	HGNC:32594	ENSG00000124126	Q8TCU6	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	gwas
CALHM6	HGNC:33391	ENSG00000188820	Q5R3K3	Calcium homeostasis modulator protein 6	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TNS2	Tensin-2	Tyrosine-protein phosphatase which regulates cell motility, proliferation and muscle-response to insulin.
KANK4	KN motif and ankyrin repeat domain-containing protein 4	May be involved in the control of cytoskeleton formation by regulating actin polymerization.
ITSN1	Intersectin-1	Adapter protein that provides a link between the endocytic membrane traffic and the actin assembly machinery.
PODXL	Podocalyxin	Involved in the regulation of both adhesion and cell morphology and cancer progression.
XPO5	Exportin-5	Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos).
KANK1	KN motif and ankyrin repeat domain-containing protein 1	Adapter protein that links structural and signaling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis.
DLC1	Rho GTPase-activating protein 7	Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling.
ITSN2	Intersectin-2	Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery.
RUNX2	Runt-related transcription factor 2	Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis.
SGPL1	Sphingosine-1-phosphate lyase 1	Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine.
SMARCAL1	SNF2 related chromatin remodeling annealing helicase 1	ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA.
BTNL2	Butyrophilin-like protein 2	Negative regulator of T-cell proliferation.
TRPC6	Short transient receptor potential channel 6	Forms a receptor-activated non-selective calcium permeant cation channel.
WT1	Wilms tumor protein	Transcription factor that plays an important role in cellular development and cell survival.
NPHS2	Podocin	Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
ANLN	Anillin	Required for cytokinesis.
AVIL	Advillin	Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling.
TP53RK	EKC/KEOPS complex subunit TP53RK	Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine.
ACTN4	Alpha-actinin-4	F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
PLCE1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1	The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.
OSGEP	tRNA N6-adenosine threonylcarbamoyltransferase	Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine.
KIRREL2	Kin of IRRE-like protein 2	May regulate basal insulin secretion.
COQ8B	Atypical kinase COQ8B, mitochondrial	Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration.
CLCN5	H(+)/Cl(-) exchange transporter 5	Proton-coupled chloride transporter.
SULF2	Extracellular sulfatase Sulf-2	Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity.
KCTD11	BTB/POZ domain-containing protein KCTD11	Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor.
CDK20	Cyclin-dependent kinase 20	Required for high-level Shh responses in the developing neural tube.
SLC35F1	Solute carrier family 35 member F1	Putative solute transporter.
COL4A3	Collagen alpha-3(IV) chain	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen.
COL4A4	Collagen alpha-4(IV) chain	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen.
COL4A5	Collagen alpha-5(IV) chain	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen.
PDSS2	All trans-polyprenyl-diphosphate synthase PDSS2	Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination…
DHTKD1	2-oxoadipate dehydrogenase complex component E1	2-oxoadipate dehydrogenase (E1a) component of the 2-oxoadipate dehydrogenase complex (OADHC).
INF2	Inverted formin-2	Severs actin filaments and accelerates their polymerization and depolymerization.
TPRKB	EKC/KEOPS complex subunit TPRKB	Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine.
PARM1	Prostate androgen-regulated mucin-like protein 1	May regulate TLP1 expression and telomerase activity, thus enabling certain prostatic cells to resist apoptosis.
TBC1D8B	TBC1 domain family member 8B	Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.
CTNS	Cystinosin	Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes.
COQ2	4-hydroxybenzoate polyprenyltransferase, mitochondrial	Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis.
ARHGAP24	Rho GTPase-activating protein 24	Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization.
TTC21B	Tetratricopeptide repeat protein 21B	Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs).
WDR73	Integrator complex assembly factor WDR73	Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex.
AXDND1	Axonemal dynein light chain domain-containing protein 1	May be essential for spermiogenesis and male fertility probably by regulating the manchette dynamics, spermatid head shaping and sperm flagellum assembly.
DGKE	Diacylglycerol kinase epsilon	Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids.
NUP93	Nuclear pore complex protein Nup93	Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance.
SYNPO	Synaptopodin	Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes.
PREX1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP.
CALHM6	Calcium homeostasis modulator protein 6	Pore-forming subunit of an ATP-permeable channel.
AGXT	Alanine–glyoxylate aminotransferase	Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification.
FAT1	Protocadherin Fat 1	Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.

Protein-family classification

Druggable: 28 · Difficult: 15 · Unknown: 31 · Druggable fraction: 0.38

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	10	3.9×	0.002
Scaffold/PPI	10	2.3×	0.050
Phosphatase	2	2.3×	0.555
Transporter	2	2.1×	0.555
Kinase	4	1.5×	0.555
Ion channel	1	1.5×	0.696
Enzyme (other)	7	1.1×	0.696
Protease	2	1.0×	0.755
Other/Unknown	31	0.8×	0.994
Transcription factor	5	0.6×	0.994

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TNS2	Phosphatase	yes		SH2, PKC_DAG/PE, PTB/PI_dom
KANK4	Scaffold/PPI	no		Ankyrin_rpt, KN_motif, Ankyrin_rpt-contain_sf
ITSN1	Scaffold/PPI	no		C2_dom, DH_dom, EH_dom
PODXL	Other/Unknown	no		CD34/Podocalyxin, PODXL
XPO5	Other/Unknown	no		Importin-beta_N, ARM-like, Exportin-1/Importin-b-like
KANK1	Scaffold/PPI	no		Ankyrin_rpt, KN_motif, Ankyrin_rpt-contain_sf
DLC1	Other/Unknown	no		RhoGAP_dom, SAM, START_lipid-bd_dom
ITSN2	Scaffold/PPI	no		C2_dom, DH_dom, EH_dom
RUNX2	Transcription factor	no		AML1_Runt, p53-like_TF_DNA-bd_sf, p53/RUNT-type_TF_DNA-bd_sf
SGPL1	Enzyme (other)	yes	4.1.2.27	PyrdxlP-dep_de-COase, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase_small
SMARCAL1	Other/Unknown	no		SNF2_N, Helicase_C-like, HARP_dom
BTNL2	Antibody/Immunoglobulin	yes		Ig_C1-set, Ig_sub, Ig-like_dom
TRPC6	Ion channel	yes		Ankyrin_rpt, TRPC_channel, TRPC6_channel
WT1	Transcription factor	no		Wilms_tumour_N, Znf_C2H2_type, Znf_C2H2_sf
NPHS2	Other/Unknown	no		Band_7, Stomatin_HflK_fam, Band_7/stomatin-like_CS
ANLN	Scaffold/PPI	no		PH_domain, PH-like_dom_sf, AHD
AVIL	Other/Unknown	no		Villin_headpiece, Villin/Gelsolin, Gelsolin-like_dom
TP53RK	Kinase	yes	2.7.11.1	Prot_kinase_dom, Tyr_kinase_AS, Kinase-like_dom_sf
ACTN4	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
PLCE1	Enzyme (other)	yes	3.1.4.11	C2_dom, RA_dom, PLipase_C_PInositol-sp_X_dom
OSGEP	Protease	yes		Gcp-like_dom, Peptidase_M22_CS, KAE1/TsaD
KIRREL2	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, Ig-like_dom
COQ8B	Kinase	yes		ABC1_dom, Kinase-like_dom_sf, ADCK3_dom
HCG23	Other/Unknown	no
DDX53	Other/Unknown	no		RNA-helicase_DEAD-box_CS, Helicase_C-like, KH_dom
CLCN5	Other/Unknown	no		CBS_dom, ClC, Cl_channel-5
SULF2	Phosphatase	yes		Sulfatase_N, Extracellular_sulfatase, Alkaline_phosphatase_core_sf
KCTD11	Other/Unknown	no		T1-type_BTB, SKP1/BTB/POZ_sf, KCTD11/21_C
CDK20	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
SLC35F1	Transporter	yes		SLC35_F1/F2/F6, EmrE-like, SLC35F_Transporter
COL4A3	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold
COL4A4	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold
COL4A5	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold
PDSS2	Enzyme (other)	yes	2.5.1.91	Polyprenyl_synt, Isoprenoid_synthase_dom_sf
DHTKD1	Enzyme (other)	yes	1.2.1.105	DH_E1, Transketolase-like_Pyr-bd, 2oxoglutarate_DH_E1
INF2	Other/Unknown	no		WH2_dom, FH3_dom, GTPase-bd
TPRKB	Other/Unknown	no		CGI121/TPRKB, CGI121/TPRKB_sf
PARM1	Other/Unknown	no		PARM1
TBC1D8B	Other/Unknown	no		Rab-GAP-TBC_dom, EF_hand_dom, GRAM
CTNS	Transporter	yes		LC_transporter, PQ-loop_rpt
COQ2	Enzyme (other)	yes	2.5.1.39	UbiA_prenyltransferase, HB_polyprenyltransferase-like, UbiA_prenylTrfase_CS
ARHGAP24	Scaffold/PPI	no		RhoGAP_dom, PH_domain, Rho_GTPase_activation_prot
TTC21B	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, TTC21A/TTC21B
WDR73	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf
AXDND1	Other/Unknown	no		Axonemal_dynein_light_chain, Axonemal_dynein_LC_domain
DGKE	Kinase	yes	2.7.1.107	Diacylglycerol_kin_accessory, Diacylglycerol_kinase_cat_dom, PKC_DAG/PE
NUP93	Other/Unknown	no		Nucleoporin_int_Nup93/Nic96
SYNPO	Other/Unknown	no		Synaptopodin_domain
PREX1	Scaffold/PPI	no		DH_dom, DEP_dom, GDS_CDC24_CS
CALHM6	Other/Unknown	no		CALHM

Expression context

Cohort genes with no expression data: 1.

69 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	72
unknown	1

Top tissues across cohort

Tissue	Cohort genes
sural nerve	7
primordial germ cell in gonad	7
ventricular zone	7
metanephric glomerulus	6
right uterine tube	6
male germ line stem cell (sensu Vertebrata) in testis	6
buccal mucosa cell	5
renal glomerulus	4
stromal cell of endometrium	4
renal medulla	4
decidua	4
tibial nerve	4
metanephros cortex	4
apex of heart	3
tibia	3
right lung	3
cerebellar hemisphere	3
ganglionic eminence	3
secondary oocyte	3
right adrenal gland	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TNS2	276	ubiquitous	marker	apex of heart, peripheral nervous system, mucosa of stomach
KANK4	198	broad	marker	trigeminal ganglion, dorsal root ganglion, substantia nigra pars compacta
ITSN1	293	ubiquitous	marker	sural nerve, tibia, cortical plate
PODXL	276	ubiquitous	marker	renal glomerulus, metanephric glomerulus, germinal epithelium of ovary
XPO5	250	ubiquitous	marker	adrenal tissue, primordial germ cell in gonad, upper arm skin
KANK1	291	ubiquitous	marker	blood vessel layer, cartilage tissue, descending thoracic aorta
DLC1	268	ubiquitous	marker	adrenal tissue, lower lobe of lung, sural nerve
ITSN2	292	ubiquitous	marker	buccal mucosa cell, parietal pleura, visceral pleura
RUNX2	241	ubiquitous	marker	tibia, mucosa of paranasal sinus, trabecular bone tissue
SGPL1	286	ubiquitous	marker	esophagus squamous epithelium, epithelium of esophagus, upper leg skin
SMARCAL1	264	ubiquitous	marker	primordial germ cell in gonad, stromal cell of endometrium, sural nerve
BTNL2	106		yes	sural nerve, ventricular zone, primordial germ cell in gonad
TRPC6	180	broad	marker	right lung, lower esophagus muscularis layer, lower esophagus
WT1	168	broad	marker	germinal epithelium of ovary, renal glomerulus, metanephric glomerulus
NPHS2	47	tissue_specific	marker	renal glomerulus, metanephric glomerulus, kidney epithelium
ANLN	222	ubiquitous	marker	corpus callosum, inferior vagus X ganglion, C1 segment of cervical spinal cord
AVIL	217	tissue_specific	marker	dorsal root ganglion, cerebellar hemisphere, gastrocnemius
TP53RK	222	ubiquitous	marker	ventricular zone, ganglionic eminence, cortical plate
ACTN4	145	ubiquitous	marker	popliteal artery, tibial artery, smooth muscle tissue
PLCE1	271	broad	marker	renal glomerulus, metanephric glomerulus, ventricular zone
OSGEP	254	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
KIRREL2	97	tissue_specific	marker	body of pancreas, pancreas, left ventricle myocardium
COQ8B	227	ubiquitous	marker	right uterine tube, adenohypophysis, pituitary gland
HCG23
DDX53	12	tissue_specific	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, sperm
CLCN5	218	ubiquitous	marker	renal medulla, secondary oocyte, corpus epididymis
SULF2	256	ubiquitous	marker	decidua, body of uterus, myometrium
KCTD11	132	ubiquitous	marker	lower esophagus mucosa, tibial nerve, esophagus mucosa
CDK20	199	ubiquitous	marker	right uterine tube, right adrenal gland cortex, right adrenal gland
SLC35F1	185	broad	marker	ventricular zone, endothelial cell, Brodmann (1909) area 46

Protein interactions among cohort

Intra-cohort edges: 105.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FN1	8,860
ANLN	6,413
MYH9	5,533
RUNX2	4,101
WT1	3,938
ITSN2	3,717
XPO5	3,620
HLA-DRB1	3,448
ACTN4	3,303
REN	3,244

Intra-cohort edges

A	B	Sources
ACTN4	ALMS1	string_interaction
ACTN4	ANLN	biogrid_interaction, string_interaction
ACTN4	INF2	string_interaction
ACTN4	MYH9	biogrid_interaction, string_interaction
ACTN4	MYO1E	string_interaction
ACTN4	NPHS1	string_interaction
ACTN4	NPHS2	string_interaction
ACTN4	PLCE1	string_interaction
ACTN4	PODXL	string_interaction
ACTN4	SYNPO	biogrid_interaction, string_interaction
ACTN4	TRPC6	string_interaction
ALMS1	AVIL	biogrid_interaction, string_interaction
ANLN	INF2	intact, string_interaction
ANLN	MYO1E	intact, string_interaction
ARHGAP24	INF2	string_interaction
ARHGAP24	KANK4	string_interaction
ARHGAP24	NPHS1	string_interaction
ARHGAP24	NPHS2	string_interaction
BTNL2	HLA-DQB1	intact
BTNL2	HLA-DRB1	string_interaction
BTNL2	LAMB2	biogrid_interaction
CLCN5	CTNS	string_interaction
COL4A3	COL4A4	string_interaction
COL4A3	LMX1B	string_interaction
COL4A3	MYH9	string_interaction
COL4A3	NPHS1	string_interaction
COL4A3	NPHS2	string_interaction
COL4A4	COL4A5	string_interaction
COL4A4	INF2	string_interaction
COL4A4	LMX1B	string_interaction
COL4A4	MYH9	string_interaction
COL4A4	NPHS1	string_interaction
COL4A4	NPHS2	string_interaction
COL4A5	LAMA5	string_interaction
COL4A5	NPHS1	string_interaction
COL4A5	NPHS2	string_interaction
COQ2	COQ8B	string_interaction
COQ2	MYO1E	string_interaction
COQ2	PDSS2	string_interaction
COQ2	PLCE1	string_interaction
COQ8B	INF2	string_interaction
COQ8B	MYO1E	string_interaction
COQ8B	NPHS1	string_interaction
COQ8B	NPHS2	string_interaction
COQ8B	PDSS2	string_interaction
COQ8B	PLCE1	string_interaction
DGKE	INF2	string_interaction
DLC1	TNS2	string_interaction
FAT1	KIRREL2	string_interaction
FAT1	NPHS1	string_interaction

Structural data

PDB: 42 · AlphaFold-only: 28 · No structure: 4

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HLA-DRB1	P01911	108
REN	P00797	91
FN1	P02751	65
GLA	P06280	31
WT1	P19544	28
HLA-DQA1	P01909	28
AGXT	P21549	17
PREX1	Q8TCU6	14
ITGB4	P16144	13
ITSN1	Q15811	11
INF2	Q27J81	10
HLA-DQB1	P01920	10
ITSN2	Q9NZM3	8
DHTKD1	Q96HY7	8
MYH9	P35579	8
DLC1	Q96QB1	7
TPRKB	Q9Y3C4	7
NUP93	Q8N1F7	7
TRPC6	Q9Y210	6
TP53RK	Q96S44	6
CTNS	O60931	6
TNS2	Q63HR2	5
KANK1	Q14678	5
ACTN4	O43707	5
RUNX2	Q13950	4
XPO5	Q9HAV4	3
ANLN	Q9NQW6	3
PLCE1	Q9P212	3
TTC21B	Q7Z4L5	3
SGPL1	O95470	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DGKE	P52429	86.18
CDK20	Q8IZL9	86.08
BTNL2	Q9UIR0	85.97
COQ2	Q96H96	85.64
KCTD11	Q693B1	85.00
ITGA3	P26006	83.88
MYO1E	Q12965	80.46
PDSS2	Q86YH6	80.28
TBC1D8B	Q0IIM8	79.33
GPC5	P78333	78.66
SLC35F1	Q5T1Q4	78.53
COQ8B	Q96D53	77.00
LAMB2	P55268	75.94
KIRREL2	Q6UWL6	75.30
NPHS2	Q9NP85	75.00
SULF2	Q8IWU5	74.16
AXDND1	Q5T1B0	70.90
LMX1B	O60663	70.79
ARHGAP24	Q8N264	66.68
PAX2	Q02962	61.52
KANK4	Q5T7N3	57.17
FOXD2	O60548	55.97
PODXL	O00592	53.66
PARM1	Q6UWI2	52.35
SYNPO	Q8N3V7	50.70
FAT1	Q14517
ALMS1	Q8TCU4
MXRA5	Q9NR99

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 243. Enrichment computed across 74 evidence-associated genes (49 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 49 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Laminin interactions	7	54.4×	8e-09	COL4A3, COL4A4, COL4A5, ITGA3, ITGB4, LAMA5, LAMB2
Attachment of bacteria to epithelial cells	6	60.8×	5e-08	COL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB2
Non-integrin membrane-ECM interactions	7	22.1×	2e-06	COL4A3, COL4A4, COL4A5, FN1, ITGB4, LAMA5, LAMB2
ECM proteoglycans	6	18.4×	5e-05	COL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB2
Fibronectin matrix formation	4	46.6×	7e-05	COL4A3, COL4A4, COL4A5, FN1
Nephrin family interactions	4	38.8×	1e-04	NPHS2, ACTN4, KIRREL2, NPHS1
MET activates PTK2 signaling	4	31.1×	3e-04	FN1, ITGA3, LAMA5, LAMB2
Ubiquinol biosynthesis	3	53.8×	6e-04	COQ8B, PDSS2, COQ2
Anchoring fibril formation	3	46.6×	8e-04	COL4A3, COL4A4, COL4A5
Integrin cell surface interactions	5	13.7×	8e-04	COL4A3, COL4A4, COL4A5, FN1, ITGA3
MET promotes cell motility	3	36.8×	0.002	ITGA3, LAMA5, LAMB2
Crosslinking of collagen fibrils	3	35.0×	0.002	COL4A3, COL4A4, COL4A5
Assembly of collagen fibrils and other multimeric structures	4	16.4×	0.002	COL4A3, COL4A4, COL4A5, ITGB4
Signaling by MET	3	19.4×	0.008	ITGA3, LAMA5, LAMB2
tRNA modification in the nucleus and cytosol	3	17.9×	0.010	TP53RK, OSGEP, TPRKB
Collagen chain trimerization	3	15.9×	0.013	COL4A3, COL4A4, COL4A5
Signaling by PDGF	3	15.5×	0.013	COL4A3, COL4A4, COL4A5
NCAM1 interactions	3	15.2×	0.013	COL4A3, COL4A4, COL4A5
Developmental Lineage of Pancreatic Ductal Cells	3	14.0×	0.016	FN1, LAMA5, LAMB2
Nephron development	2	35.9×	0.017	WT1, PAX2
Translocation of ZAP-70 to Immunological synapse	2	25.9×	0.028	HLA-DQA1, HLA-DRB1
RHOQ GTPase cycle	3	11.1×	0.028	ITSN1, DLC1, PREX1
Collagen degradation	3	10.8×	0.028	COL4A3, COL4A4, COL4A5
Collagen biosynthesis and modifying enzymes	3	10.4×	0.030	COL4A3, COL4A4, COL4A5
Phosphorylation of CD3 and TCR zeta chains	2	22.2×	0.035	HLA-DQA1, HLA-DRB1
Co-inhibition by PD-1	2	21.2×	0.035	HLA-DQA1, HLA-DRB1
RHOB GTPase cycle	3	9.4×	0.035	ANLN, DLC1, PREX1
RHOA GTPase cycle	4	6.1×	0.036	ANLN, ARHGAP24, DLC1, PREX1
SLC-mediated transport of oligopeptides	1	233.1×	0.036	CTNS
RHOC GTPase cycle	3	9.0×	0.036	ANLN, DLC1, PREX1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 67 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
glomerular basement membrane development	6	137.2×	8e-10	WT1, SULF2, COL4A3, COL4A4, MYO1E, NPHS1
glomerular filtration	4	55.9×	2e-04	NPHS2, SULF2, TBC1D8B, MYO1E
metanephric podocyte development	2	251.5×	0.002	NPHS2, LAMB2
clathrin-dependent synaptic vesicle endocytosis	2	251.5×	0.002	ITSN1, ITSN2
podocyte development	3	68.6×	0.002	PODXL, MYO1E, NPHS1
glomerulus development	3	58.0×	0.002	WT1, PLCE1, MYO1E
peptide antigen assembly with MHC class II protein complex	3	47.2×	0.003	HLA-DQA1, HLA-DQB1, HLA-DRB1
ubiquinone biosynthetic process	3	41.9×	0.003	COQ8B, PDSS2, COQ2
integrin-mediated signaling pathway	5	12.0×	0.004	FN1, ITGA3, ITGB4, LAMA5, MYH9
negative regulation of Rho protein signal transduction	3	34.3×	0.005	KANK1, DLC1, ITGA3
kidney development	5	10.5×	0.006	TNS2, SGPL1, WT1, SULF2, REN
tRNA threonylcarbamoyladenosine modification	2	100.6×	0.007	OSGEP, TPRKB
metanephric epithelium development	2	100.6×	0.007	WT1, PAX2
antigen processing and presentation of exogenous peptide antigen via MHC class II	3	24.3×	0.010	HLA-DQA1, HLA-DQB1, HLA-DRB1
metanephric mesenchyme development	2	71.9×	0.010	WT1, PAX2
podocyte cell migration	2	71.9×	0.010	ANLN, KANK1
negative regulation of ruffle assembly	2	71.9×	0.010	KANK1, ARHGAP24
positive regulation of immune response	3	21.6×	0.011	HLA-DQA1, HLA-DQB1, HLA-DRB1
cell adhesion	8	4.5×	0.012	PODXL, KIRREL2, COL4A3, FAT1, FN1, ITGB4, LAMA5, LAMB2
negative regulation of smoothened signaling pathway	3	20.4×	0.012	RUNX2, KCTD11, CDK20
positive regulation of T cell activation	3	19.9×	0.012	HLA-DQA1, HLA-DQB1, HLA-DRB1
isoprenoid biosynthetic process	2	50.3×	0.017	PDSS2, COQ2
mesonephros development	2	45.7×	0.018	PAX2, REN
mesodermal cell differentiation	2	45.7×	0.018	ITGA3, ITGB4
mesenchymal to epithelial transition	2	45.7×	0.018	WT1, PAX2
branching involved in ureteric bud morphogenesis	3	16.4×	0.018	WT1, LAMA5, PAX2
positive regulation of canonical Wnt signaling pathway	4	9.2×	0.019	KANK1, SULF2, TTC21B, GPC5
collagen-activated tyrosine kinase receptor signaling pathway	2	38.7×	0.023	COL4A3, COL4A5
negative regulation of substrate adhesion-dependent cell spreading	2	33.5×	0.029	ACTN4, KANK1
actin cytoskeleton organization	5	5.9×	0.029	NPHS2, ACTN4, KANK1, DLC1, MYH9

Therapeutics

Drugs indicated for this disease

15 approved, 9 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Betamethasone Acetate	Approved (phase 4)
Bumetanide	Approved (phase 4)
Chlorothiazide	Approved (phase 4)
Chlorthalidone	Approved (phase 4)
Cholestyramine	Approved (phase 4)
Cortisone Acetate	Approved (phase 4)
Dexamethasone	Approved (phase 4)
Ethacrynic Acid	Approved (phase 4)
Furosemide	Approved (phase 4)
Hydrochlorothiazide	Approved (phase 4)
Methylprednisolone Acetate	Approved (phase 4)
Prednisolone	Approved (phase 4)
Prednisone	Approved (phase 4)
Spironolactone	Approved (phase 4)
Triamterene	Approved (phase 4)
Corticotropin	Phase 3 (in late-stage trials)
Mizoribine	Phase 3 (in late-stage trials)
Mycophenolate Mofetil	Phase 3 (in late-stage trials)
Mycophenolic Acid	Phase 3 (in late-stage trials)
Pentoxifylline	Phase 3 (in late-stage trials)
Phenol	Phase 3 (in late-stage trials)
Rituximab	Phase 3 (in late-stage trials)
Tacrolimus Anhydrous	Phase 3 (in late-stage trials)
Telitacicept	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Abatacept, Aldesleukin, Alirocumab, Atorvastatin, Belimumab, Daratumumab, Enoxaparin Sodium, Obinutuzumab, Ofatumumab, Pirfenidone, Sodium Chloride.

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 10 · Undrugged: 64

Druggability breadth: 31 of 74 evidence-associated genes (42%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
SGPL1	FINGOLIMOD
TP53RK	GILTERITINIB
COQ8B	FEDRATINIB
GLA	CLOTRIMAZOLE
REN	CAPTOPRIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GLA	62	4
REN	13	4
COQ8B	9	4
TP53RK	6	4
SGPL1	1	4
TRPC6	1	2
ACTN4	1	2
CDK20	1	2
NUP93	1	2
MYH9	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FINGOLIMOD	4	SGPL1
GILTERITINIB	4	TP53RK
FEDRATINIB	4	COQ8B
VANDETANIB	4	COQ8B
ERLOTINIB	4	COQ8B
CRIZOTINIB	4	COQ8B
CLOTRIMAZOLE	4	GLA
METHYSERGIDE	4	GLA
MIGALASTAT	4	GLA
PINACIDIL ANHYDROUS	4	GLA
DOXAZOSIN MESYLATE	4	GLA
AMPICILLIN SODIUM	4	GLA
PHENOXYBENZAMINE HYDROCHLORIDE	4	GLA
METHYSERGIDE MALEATE	4	GLA
ACRISORCIN	4	GLA
NOMIFENSINE MALEATE	4	GLA
INAMRINONE	4	GLA
AMILORIDE HYDROCHLORIDE	4	GLA
PHENOL	4	GLA
FLUPHENAZINE HYDROCHLORIDE	4	GLA
PRAZOSIN HYDROCHLORIDE	4	GLA
PSEUDOEPHEDRINE	4	GLA
PHENYTOIN SODIUM	4	GLA
RIBAVIRIN	4	GLA
SOTALOL HYDROCHLORIDE	4	GLA
DIGOXIN	4	GLA
PRAZOSIN	4	GLA
DOMPERIDONE	4	GLA
CIMETIDINE	4	GLA
MASOPROCOL	4	GLA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 10.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
REN	541	Binding:472, Functional:68, ADMET:1
GLA	114	Binding:104, Functional:10
COQ8B	77	Binding:77
TP53RK	40	Binding:40
CDK20	40	Binding:40
TRPC6	30	Binding:30
SGPL1	19	Binding:19
HLA-DRB1	17	Binding:17
MYH9	10	Binding:10
AGXT	8	Binding:8
XPO5	7	Binding:7
ACTN4	7	Binding:7
NUP93	7	Binding:7
ITSN1	5	Binding:5
ITGA3	5	Binding:5
CTNS	2	Binding:2
HLA-DQA1	2	Binding:2
ITGB4	2	Binding:2
OSGEP	1	Binding:1
KCTD11	1	Binding:1
INF2	1	Binding:1
TPRKB	1	Binding:1
DGKE	1	Binding:1
FN1	1	Binding:1
PAX2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
SGPL1	4.1.2.27	sphinganine-1-phosphate aldolase
TP53RK	2.7.11.1	non-specific serine/threonine protein kinase
PLCE1	3.1.4.11	phosphoinositide phospholipase C
PDSS2	2.5.1.91	all-trans-decaprenyl-diphosphate synthase
DHTKD1	1.2.1.105	2-oxoglutarate dehydrogenase system
COQ2	2.5.1.39	4-hydroxybenzoate polyprenyltransferase
DGKE	2.7.1.107	diacylglycerol kinase (ATP)
AGXT	2.6.1.44, 2.6.1.51	alanine-glyoxylate transaminase, serine-pyruvate transaminase
GLA	3.2.1.22	alpha-galactosidase
REN	3.4.23.15	renin

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
GLA	114
REN	541

Pharmacogenomics

Cohort genes with a PharmGKB record: 71; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
FINGOLIMOD	4	SGPL1
GILTERITINIB	4	TP53RK
FEDRATINIB	4	COQ8B
VANDETANIB	4	COQ8B
ERLOTINIB	4	COQ8B
CRIZOTINIB	4	COQ8B
CLOTRIMAZOLE	4	GLA
METHYSERGIDE	4	GLA
MIGALASTAT	4	GLA
PINACIDIL ANHYDROUS	4	GLA
DOXAZOSIN MESYLATE	4	GLA
AMPICILLIN SODIUM	4	GLA
PHENOXYBENZAMINE HYDROCHLORIDE	4	GLA
METHYSERGIDE MALEATE	4	GLA
ACRISORCIN	4	GLA
NOMIFENSINE MALEATE	4	GLA
INAMRINONE	4	GLA
AMILORIDE HYDROCHLORIDE	4	GLA
PHENOL	4	GLA
FLUPHENAZINE HYDROCHLORIDE	4	GLA
PRAZOSIN HYDROCHLORIDE	4	GLA
PSEUDOEPHEDRINE	4	GLA
PHENYTOIN SODIUM	4	GLA
RIBAVIRIN	4	GLA
SOTALOL HYDROCHLORIDE	4	GLA
DIGOXIN	4	GLA
PRAZOSIN	4	GLA
DOMPERIDONE	4	GLA
CIMETIDINE	4	GLA
MASOPROCOL	4	GLA

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	5	SGPL1, TP53RK, COQ8B, GLA, REN
B	Phased (≥1) drug, not yet approved	5	TRPC6, ACTN4, CDK20, NUP93, MYH9
C	Druggable family + PDB, no drug	12	TNS2, PLCE1, OSGEP, DHTKD1, CTNS, AGXT, FN1, HLA-DQA1, HLA-DQB1, HLA-DRB1 (+2 more)
D	Druggable family + AlphaFold only, no drug	9	BTNL2, KIRREL2, SULF2, SLC35F1, PDSS2, COQ2, DGKE, ITGA3, MXRA5
E	Difficult family or no structure, no drug	43	KANK4, ITSN1, PODXL, XPO5, KANK1, DLC1, ITSN2, RUNX2, SMARCAL1, WT1 (+33 more)

Undrugged target profiles

64 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
NPHS2	0	TRPC6
PLCE1	0	TRPC6
OSGEP	1	TP53RK
COL4A4	0	MYH9
INF2	1	ACTN4
TPRKB	1	TP53RK
WDR73	0	TP53RK
SYNPO	0	ACTN4
MYO1E	0	ACTN4
TNS2	0	—
KANK4	0	—
ITSN1	5	—
PODXL	0	—
XPO5	7	—
KANK1	0	—
DLC1	0	—
ITSN2	0	—
RUNX2	0	—
SMARCAL1	0	—
BTNL2	0	—
WT1	0	—
ANLN	0	—
AVIL	0	—
KIRREL2	0	—
HCG23	0	—
DDX53	0	—
CLCN5	0	—
SULF2	0	—
KCTD11	1	—
SLC35F1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 104.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	52
PHASE2	15
PHASE4	13
PHASE3	13
PHASE1	5
PHASE2/PHASE3	4
PHASE1/PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT07214818	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	SGLT2 Inhibitors in Adult Primary Nephrotic Syndrome
NCT00035334	PHASE2/PHASE3	COMPLETED	Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00362531	PHASE2/PHASE3	COMPLETED	Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT04558892	PHASE2/PHASE3	TERMINATED	Anti-Xa Activity of Enoxaparin for Prevention of Venous Thromboembolism in Severe Nephrotic Syndrome.
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT03949855	PHASE2	RECRUITING	Belimumab With Rituximab for Primary Membranous Nephropathy
NCT06983028	PHASE2	RECRUITING	Atacicept in Multiple Glomerular Diseases
NCT07313787	PHASE2	NOT_YET_RECRUITING	Effects of Meal Macronutrients on Postprandial Lipids
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy
NCT00001959	PHASE2	COMPLETED	Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis)
NCT00004466	PHASE2	TERMINATED	Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome
NCT00004990	PHASE2	COMPLETED	Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis
NCT02394106	PHASE2	TERMINATED	Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome
NCT02394119	PHASE2	COMPLETED	Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TACROLIMUS ANHYDROUS	4	8
CORTICOTROPIN	4	4
FUROSEMIDE	4	2
MONTELUKAST	4	2
ACETAZOLAMIDE	4	1
ALFACALCIDOL	4	1
ALIROCUMAB	4	1
AMILORIDE	4	1
BELIMUMAB	4	1
CYCLOSPORINE	4	1
DALTEPARIN SODIUM	4	1
DEXTROSE	4	1
EDOXABAN	4	1
MYCOPHENOLATE MOFETIL	4	1
PENTOXIFYLLINE	4	1
PIRFENIDONE	4	1
PREDNISOLONE	4	1
RITUXIMAB	4	1
ATACICEPT	3	1
MIZORIBINE	3	1
CHEMBL4564923	0	1
CHEMBL406352	0	1
CHEMBL4303203	0	1
CHEMBL4643136	0	1