Irritable bowel syndrome

Summary

Irritable bowel syndrome (MONDO:0005052) is a disease with 25 cohort genes (231 GWAS associations across 69 studies) and 805 clinical trials. Top therapeutic interventions include rifaximin, eluxadoline, and inulin.

At a glance

• Cohort genes: 25
• GWAS associations: 231
• Clinical trials: 805

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	irritable bowel syndrome
Mondo ID	MONDO:0005052
EFO	EFO:0000555
MeSH	D043183
DOID	DOID:9778
ICD-10-CM	K58
ICD-11	1158238623
NCIT	C82343
SNOMED CT	10743008
UMLS	C0022104
MedGen	5897
Is cancer (heuristic)	no

Also known as: IBS · irritable bowel syndrome · irritable colon · mucus colitis · spastic colon

Data availability: 231 GWAS associations (69 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › irritable bowel 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, nephrotic 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

Genetics & variants

GWAS landscape

231 GWAS associations across 69 studies. Top hits map to 35 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs3755265	2e-37	IL18RAP	?	1.01
rs2523599	4e-16	HLA-C - USP8P1	?
rs10156602	3e-15	PHF2	A	0.03
rs1248825	7e-15	LINC02025 - CADM2	A	0.03
rs4937872	7e-15	LINC02763 - NCAM1-AS2	A	0.01
rs10899234	8e-15	EMSY - LINC02757	?	0.99
rs9273453	4e-14	HLA-DQB1, HLA-DQB1-AS1	?
rs5803650	6e-14	RN7SL618P - ZNF646P1	C	0.03
rs11877758	1e-13	CELF4	T	0.01
rs11090039	3e-13	EP300	A	0.01
rs9874847	3e-13	WNT7A	?
rs9260603	3e-13	POLR1HASP, POLR1HASP	?
rs60119330	3e-13	TEF	?	1.01
rs9964724	4e-13	CELF4 - MIR4318	?	1.01
rs4744242	9e-13	FAM120A	T	0.01
rs3099439	1e-12	TMEM161B	T	0.01
rs2736155	3e-12	PRRC2A	C	0.02
rs3129981	4e-12	HCG20	?
rs113825410	6e-12	PABPC4 - HEYL	?
rs77854845	6e-12	RNU6-289P - RPL36AP23	?	0.99
rs200977	1e-11	H4C13 - H3C12	T	0.01
rs9467714	1e-11	H3C9P - BTN3A2	?
rs3017666	2e-11	GANAB	?
rs13213141	4e-11	PTP4A1 - RPL9P18	?	0.99
rs20551	5e-11	EP300-AS1, EP300	?
rs12958048	5e-11	TCF4	A	0.01
rs3095340	6e-11	HCG20	?
rs2647228	7e-11	TET2-AS1	?
rs55694714	8e-11	LINC02763 - NCAM1-AS2	?
rs912051	8e-11	PCDH8P1	?	1.01

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90432148	Jiang Y	2023	116,382	213,325	A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders.
GCST90454174	Jiang M	2023	61,516	709,884	Genetic and observational associations of lung function with gastrointestinal tract diseases: pleiotropic and mendelian randomization analysis.
GCST90454178	Jiang M	2023	61,516	709,884	Genetic and observational associations of lung function with gastrointestinal tract diseases: pleiotropic and mendelian randomization analysis.
GCST90454182	Jiang M	2023	61,516	709,884	Genetic and observational associations of lung function with gastrointestinal tract diseases: pleiotropic and mendelian randomization analysis.
GCST90271325	Gong W	2023	53,400	762,644	Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST90271326	Gong W	2023	53,400	584,648	Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST90271327	Gong W	2023	53,400	497,844	Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST90271328	Gong W	2023	53,400	467,395	Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST90271329	Gong W	2023	53,400	804,750	Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST90271330	Gong W	2023	53,400	488,726	Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	48

MAF distribution

Bucket	Variants
common (>=0.05)	49
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	39
intergenic_variant	7
non_coding_transcript_exon_variant	2
3_prime_UTR_variant	1
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs3755265	2	102436356	C>A	0.05	intron_variant	IL18RAP	2e-37	Tier 4: intronic/intergenic
rs2523599	6	31273315	C>A,G,T	0.05	intron_variant	HLA-C - USP8P1	4e-16	Tier 4: intronic/intergenic
rs10156602	9	93583046	A>G	0.367	intron_variant	PHF2	3e-15	Tier 4: intronic/intergenic
rs1248825	3	84944260	A>C,G,T	0.325	intron_variant	LINC02025 - CADM2	7e-15	Tier 4: intronic/intergenic
rs4937872	11	112956992	A>G,T	0.05	intergenic_variant	LINC02763 - NCAM1-AS2	7e-15	Tier 4: intronic/intergenic
rs10899234	11	76577893	G>A,T	0.05	intergenic_variant	EMSY - LINC02757	8e-15	Tier 4: intronic/intergenic
rs9273453	6	32660035	C>G	0.05	3_prime_UTR_variant	HLA-DQB1, HLA-DQB1-AS1	4e-14	Tier 2: splice/UTR
rs5803650	13	53365464	CTT>C,CT,CTTT,CTTTT,CTTTTT,CTTTTTTTT,CTTTTTTTTTTTTT	0.479	intron_variant	RN7SL618P - ZNF646P1	6e-14	Tier 4: intronic/intergenic
rs11877758	18	37558147	T>A,G	0.05	intron_variant	CELF4	1e-13	Tier 4: intronic/intergenic
rs11090039	22	41100796	G>A	0.05	intron_variant	EP300	3e-13	Tier 4: intronic/intergenic
rs9874847	3	13877812	C>T	0.05	intron_variant	WNT7A	3e-13	Tier 4: intronic/intergenic
rs9260603	6	29954977	C>T	0.05	intron_variant	POLR1HASP, POLR1HASP	3e-13	Tier 4: intronic/intergenic
rs60119330	22	41395041	T>C,G	0.05	intron_variant	TEF	3e-13	Tier 4: intronic/intergenic
rs9964724	18	37579161	C>A,T	0.05	intron_variant	CELF4 - MIR4318	4e-13	Tier 4: intronic/intergenic
rs4744242	9	93474429	G>A,C,T	0.05	intron_variant	FAM120A	9e-13	Tier 4: intronic/intergenic
rs3099439	5	88249501	C>T	0.05	intron_variant	TMEM161B	1e-12	Tier 4: intronic/intergenic
rs2736155	6	31637422	G>A,C,T	0.476	intron_variant	PRRC2A	3e-12	Tier 4: intronic/intergenic
rs3129981	6	30791080	C>T	0.05	intron_variant	HCG20	4e-12	Tier 4: intronic/intergenic
rs113825410	1	39591871	A>G	0.05	intergenic_variant	PABPC4 - HEYL	6e-12	Tier 4: intronic/intergenic
rs77854845	4	111450477	T>C	0.05	intergenic_variant	RNU6-289P - RPL36AP23	6e-12	Tier 4: intronic/intergenic
rs200977	6	27886523	T>C	0.05	intron_variant	H4C13 - H3C12	1e-11	Tier 4: intronic/intergenic
rs9467714	6	26340557	G>A,C	0.05	intron_variant	H3C9P - BTN3A2	1e-11	Tier 4: intronic/intergenic
rs3017666	11	62636945	A>C,G,T	0.05	intron_variant	GANAB	2e-11	Tier 4: intronic/intergenic
rs13213141	6	63585217	G>A	0.05	intergenic_variant	PTP4A1 - RPL9P18	4e-11	Tier 4: intronic/intergenic
rs20551	22	41152004	A>G	0.05	missense_variant	EP300-AS1, EP300	5e-11	Tier 1: coding
rs12958048	18	55434367	A>G,T	0.05	intron_variant	TCF4	5e-11	Tier 4: intronic/intergenic
rs3095340	6	30759162	A>C,G,T	0.05	intron_variant	HCG20	6e-11	Tier 4: intronic/intergenic
rs2647228	4	105294213	T>A,G	0.05	intron_variant	TET2-AS1	7e-11	Tier 4: intronic/intergenic
rs55694714	11	112958606	T>A	0.05	intergenic_variant	LINC02763 - NCAM1-AS2	8e-11	Tier 4: intronic/intergenic
rs912051	13	53201181	C>A,G	0.05	non_coding_transcript_exon_variant	PCDH8P1	8e-11	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PCDH15	Orphanet:231169	Usher syndrome type 1
PCDH15	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
HAMP	Orphanet:648581	Digenic hemochromatosis
HAMP	Orphanet:79230	HJV or HAMP-related hemochromatosis
FHIT	Orphanet:422526	Hereditary clear cell renal cell carcinoma
HLA-C	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
LIG4	Orphanet:235	Dubowitz syndrome
LIG4	Orphanet:39041	Omenn syndrome
LIG4	Orphanet:99812	LIG4 syndrome
PIK3CD	Orphanet:221139	Combined immunodeficiency with facio-oculo-skeletal anomalies
PIK3CD	Orphanet:33110	Autosomal non-syndromic agammaglobulinemia
PIK3CD	Orphanet:693661	Activated PI3K-delta syndrome 1

Cohort genes → proteins

25 cohort genes, 23 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	25

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SPRY1	HGNC:11269	ENSG00000164056	O43609	Protein sprouty homolog 1	gwas
PCDH15	HGNC:14674	ENSG00000150275	Q96QU1	Protocadherin-15	gwas
HAMP	HGNC:15598	ENSG00000105697	P81172	Hepcidin	gwas
EPSTI1	HGNC:16465	ENSG00000133106	Q96J88	Epithelial-stromal interaction protein 1	gwas
HES6	HGNC:18254	ENSG00000144485	Q96HZ4	Transcription cofactor HES-6	gwas
GRID2IP	HGNC:18464	ENSG00000215045	A4D2P6	Delphilin	gwas
ABLIM2	HGNC:19195	ENSG00000163995	Q6H8Q1	Actin-binding LIM protein 2	gwas
MTSS1	HGNC:20443	ENSG00000170873	O43312	Protein MTSS 1	gwas
HECW1	HGNC:22195	ENSG00000002746	Q76N89	E3 ubiquitin-protein ligase HECW1	gwas
CPNE8	HGNC:23498	ENSG00000139117	Q86YQ8	Copine-8	gwas
DPH5	HGNC:24270	ENSG00000117543	Q9H2P9	Diphthine methyl ester synthase	gwas
FAM98A	HGNC:24520	ENSG00000119812	Q8NCA5	Protein FAM98A	gwas
WSCD1	HGNC:29060	ENSG00000179314	Q658N2	Sialate:O-sulfotransferase 1	gwas
S1PR1	HGNC:3165	ENSG00000170989	P21453	Sphingosine 1-phosphate receptor 1	gwas
NALF1	HGNC:33877	ENSG00000204442	B1AL88	NALCN channel auxiliary factor 1	gwas
FGF2	HGNC:3676	ENSG00000138685	P09038	Fibroblast growth factor 2	gwas
FHIT	HGNC:3701	ENSG00000189283	P49789	Bis(5’-adenosyl)-triphosphatase	gwas
MIR5196	HGNC:43542	ENSG00000284034		microRNA 5196	gwas
HPN-AS1	HGNC:47041	ENSG00000227392		HPN antisense RNA 1	gwas
HLA-C	HGNC:4933	ENSG00000204525	P10321	HLA class I histocompatibility antigen, C alpha chain	gwas
KDELR2	HGNC:6305	ENSG00000136240	P33947	ER lumen protein-retaining receptor 2	gwas
LIG4	HGNC:6601	ENSG00000174405	P49917	DNA ligase 4	gwas
NCAM1	HGNC:7656	ENSG00000149294	P13591	Neural cell adhesion molecule 1	gwas
NUDT6	HGNC:8053	ENSG00000170917	P53370	Nudix hydrolase 6	gwas
PIK3CD	HGNC:8977	ENSG00000171608	O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SPRY1	Protein sprouty homolog 1	Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2.
PCDH15	Protocadherin-15	Calcium-dependent cell-adhesion protein.
HAMP	Hepcidin	Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues.
EPSTI1	Epithelial-stromal interaction protein 1	Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation.
HES6	Transcription cofactor HES-6	Does not bind DNA itself but suppresses both HES1-mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences.
GRID2IP	Delphilin	Postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules.
ABLIM2	Actin-binding LIM protein 2	May act as scaffold protein.
MTSS1	Protein MTSS 1	May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton.
HECW1	E3 ubiquitin-protein ligase HECW1	E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1.
CPNE8	Copine-8	Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.
DPH5	Diphthine methyl ester synthase	S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester.
FAM98A	Protein FAM98A	Positively stimulates PRMT1-induced protein arginine methylation.
WSCD1	Sialate:O-sulfotransferase 1	Sialate:O-sulfotransferase which catalyzes 8-O-sulfation at the Sia-glycan level using 3’-phosphoadenosine 5’-phosphosulfate (PAPS) as a donor, forming 8-O-sulfated Sia (Sia8S)-glycans.
S1PR1	Sphingosine 1-phosphate receptor 1	G-protein coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins.
NALF1	NALCN channel auxiliary factor 1	Auxillary component of the NALCN sodium channel complex, a channel that regulates the resting membrane potential and controls neuronal excitability.
FGF2	Fibroblast growth factor 2	Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4.
FHIT	Bis(5’-adenosyl)-triphosphatase	Possesses dinucleoside triphosphate hydrolase activity.
HLA-C	HLA class I histocompatibility antigen, C alpha chain	Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity.
KDELR2	ER lumen protein-retaining receptor 2	Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their vesicle-mediated recycling back from t…
LIG4	DNA ligase 4	DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination.
NCAM1	Neural cell adhesion molecule 1	This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
NUDT6	Nudix hydrolase 6	Mediates the hydrolysis of some nucleoside diphosphate derivatives, such as NADH and FAD (in vitro).
PIK3CD	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides.

Protein-family classification

Druggable: 7 · Difficult: 5 · Unknown: 13 · Druggable fraction: 0.28

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	2	2.3×	0.737
Scaffold/PPI	3	2.1×	0.737
Enzyme (other)	3	1.4×	0.810
Kinase	1	1.1×	0.824
GPCR	1	1.0×	0.824
Other/Unknown	13	0.9×	0.824
Transcription factor	2	0.7×	0.824

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SPRY1	Other/Unknown	no		Sprouty, Sprouty_domain
PCDH15	Other/Unknown	no		Cadherin-like_dom, Cadherin-like_sf, Cadherin_CS
HAMP	Other/Unknown	no		Hepcidin
EPSTI1	Other/Unknown	no		EPSTI1
HES6	Transcription factor	no		Orange_dom, bHLH_dom, HLH_DNA-bd_sf
GRID2IP	Scaffold/PPI	no		PDZ, FH2_Formin, PDZ_sf
ABLIM2	Transcription factor	no		Znf_LIM, Villin_headpiece, AbLIM_anchor
MTSS1	Scaffold/PPI	no		WH2_dom, I-BAR_dom, AH/BAR_dom_sf
HECW1	Scaffold/PPI	no	2.3.2.26	C2_dom, HECT_dom, WW_dom
CPNE8	Other/Unknown	no		C2_dom, VWF_A, Copine_C
DPH5	Enzyme (other)	yes	2.1.1.314	4pyrrol_Mease, Dphthn_synthase, 4pyrrole_Mease_sub2
FAM98A	Other/Unknown	no		FAM98
WSCD1	Other/Unknown	no		Sulfotransferase_dom, WSC_carb-bd, P-loop_NTPase
S1PR1	GPCR	yes		GPCR_Rhodpsn, EDG1, S1P_rcpt
NALF1	Other/Unknown	no		NALCN_aux_factor_1/2
FGF2	Other/Unknown	no		Fibroblast_GF_fam, IL1/FGF
FHIT	Enzyme (other)	yes	3.6.1.29	HIT-like, Histidine_triad_CS, HIT-like_sf
MIR5196	Other/Unknown	no
HPN-AS1	Other/Unknown	no
HLA-C	Antibody/Immunoglobulin	yes		MHC_I_a_a1/a2, Ig_C1-set, Ig-like_dom
KDELR2	Other/Unknown	no		ER_ret_rcpt
LIG4	Enzyme (other)	yes	6.5.1.1	DNA_ligase_ATP-dep, BRCT_dom, DNA_ligase_ATP-dep_N
NCAM1	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
NUDT6	Other/Unknown	no		NUDIX_hydrolase_dom, Nudix_hydrolase6-like, NUDIX_hydrolase-like_dom_sf
PIK3CD	Kinase	yes	2.7.1.137	PI3K_Ras-bd_dom, PI3/4_kinase_cat_dom, PI3K_accessory_dom

Expression context

Cohort genes with no expression data: 0.

19 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)	0
broad (>20)	25
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ventricular zone	4
right lobe of liver	3
secondary oocyte	3
ganglionic eminence	3
endothelial cell	3
left adrenal gland cortex	2
oocyte	2
cortical plate	2
Brodmann (1909) area 23	2
calcaneal tendon	2
sperm	2
body of pancreas	2
tibia	2
right lung	2
blood	2
omental fat pad	1
pericardium	1
peritoneum	1
adrenal tissue	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SPRY1	272	ubiquitous	marker	pericardium, omental fat pad, peritoneum
PCDH15	130	tissue_specific	marker	left adrenal gland cortex, male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue
HAMP	223	broad	marker	right lobe of liver, right atrium auricular region, cardiac atrium
EPSTI1	219	ubiquitous	marker	oocyte, secondary oocyte, ileal mucosa
HES6	186	ubiquitous	marker	ganglionic eminence, ventricular zone, secondary oocyte
GRID2IP	112	tissue_specific	yes	right hemisphere of cerebellum, cerebellum, cortical plate
ABLIM2	223	broad	marker	tibialis anterior, gastrocnemius, hindlimb stylopod muscle
MTSS1	294	ubiquitous	marker	pigmented layer of retina, renal glomerulus, metanephric glomerulus
HECW1	172	broad	marker	Brodmann (1909) area 23, middle temporal gyrus, endothelial cell
CPNE8	233	ubiquitous	marker	epithelial cell of pancreas, calcaneal tendon, sperm
DPH5	286	ubiquitous	marker	body of pancreas, primordial germ cell in gonad, left ovary
FAM98A	297	ubiquitous	marker	tibia, male germ cell, sperm
WSCD1	207	broad	yes	ventricular zone, ganglionic eminence, inferior vagus X ganglion
S1PR1	234	ubiquitous	marker	right lung, upper lobe of left lung, ventricular zone
NALF1	187	broad	marker	endothelial cell, Brodmann (1909) area 23, buccal mucosa cell
FGF2	232	ubiquitous	marker	cartilage tissue, choroid plexus epithelium, calcaneal tendon
FHIT	188	ubiquitous	marker	right adrenal gland, right adrenal gland cortex, left adrenal gland cortex
MIR5196	75		yes	sural nerve, islet of Langerhans, monocyte
HPN-AS1	117	tissue_specific	yes	right lobe of liver, liver, body of pancreas
HLA-C	134	ubiquitous	marker	blood, right lung, spleen
KDELR2	301	ubiquitous	marker	stromal cell of endometrium, tibia, mucosa of sigmoid colon
LIG4	275	ubiquitous	yes	endothelial cell, oocyte, secondary oocyte
NCAM1	266	ubiquitous	marker	cortical plate, ventricular zone, ganglionic eminence
NUDT6	268	ubiquitous	yes	tendon of biceps brachii, medial globus pallidus, right lobe of liver
PIK3CD	253	ubiquitous	marker	granulocyte, blood, lymph node

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FGF2	5,701
NCAM1	5,075
LIG4	2,352
PIK3CD	2,059
S1PR1	2,046
PCDH15	1,732
FHIT	1,690
MTSS1	1,628
DPH5	1,587
HAMP	1,580

Intra-cohort edges

A	B	Sources
FGF2	NUDT6	string_interaction
GRID2IP	KDELR2	string_interaction

Structural data

PDB: 14 · AlphaFold-only: 9 · No structure: 2

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
LIG4	P49917	31
FGF2	P09038	25
S1PR1	P21453	21
PIK3CD	O00329	18
HLA-C	P10321	13
FHIT	P49789	9
PCDH15	Q96QU1	8
NCAM1	P13591	7
HAMP	P81172	6
NALF1	B1AL88	5
ABLIM2	Q6H8Q1	3
NUDT6	P53370	2
MTSS1	O43312	1
HECW1	Q76N89	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
KDELR2	P33947	93.12
DPH5	Q9H2P9	92.20
CPNE8	Q86YQ8	88.19
WSCD1	Q658N2	77.87
EPSTI1	Q96J88	75.49
HES6	Q96HZ4	71.57
FAM98A	Q8NCA5	68.95
GRID2IP	A4D2P6	67.21
SPRY1	O43609	61.99

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 111. Enrichment computed across 25 evidence-associated genes (14 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 14 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
TGFBR3 regulates FGF2 signaling	1	271.9×	0.067	FGF2
2-LTR circle formation	1	116.5×	0.067	LIG4
Synthesis of diphthamide-EEF2	1	102.0×	0.067	DPH5
Formation of intermediate mesoderm	1	102.0×	0.067	FGF2
FGFR1b ligand binding and activation	1	90.6×	0.067	FGF2
FGFR2b ligand binding and activation	1	81.6×	0.067	FGF2
Endosomal/Vacuolar pathway	1	74.2×	0.067	HLA-C
Co-stimulation by ICOS	1	74.2×	0.067	PIK3CD
Signaling by activated point mutants of FGFR1	1	68.0×	0.067	FGF2
Signaling by activated point mutants of FGFR3	1	68.0×	0.067	FGF2
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)	1	68.0×	0.067	PIK3CD
FGFR3c ligand binding and activation	1	62.8×	0.067	FGF2
FGFR2c ligand binding and activation	1	62.8×	0.067	FGF2
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation	1	62.8×	0.067	FGF2
Phospholipase C-mediated cascade; FGFR3	1	62.8×	0.067	FGF2
FGFRL1 modulation of FGFR1 signaling	1	62.8×	0.067	FGF2
FGFR4 ligand binding and activation	1	58.3×	0.067	FGF2
FGFR1c ligand binding and activation	1	54.4×	0.067	FGF2
Lysosphingolipid and LPA receptors	1	54.4×	0.067	S1PR1
Phospholipase C-mediated cascade; FGFR4	1	54.4×	0.067	FGF2
DCC mediated attractive signaling	1	51.0×	0.067	ABLIM2
Activated point mutants of FGFR2	1	48.0×	0.067	FGF2
Phospholipase C-mediated cascade: FGFR1	1	48.0×	0.067	FGF2
Phospholipase C-mediated cascade; FGFR2	1	45.3×	0.067	FGF2
PI-3K cascade:FGFR3	1	45.3×	0.067	FGF2
Formation of the nephric duct	1	45.3×	0.067	FGF2
SHC-mediated cascade:FGFR3	1	42.9×	0.067	FGF2
Signaling by FGFR2 IIIa TM	1	42.9×	0.067	FGF2
Developmental Lineage of Multipotent Pancreatic Progenitor Cells	1	42.9×	0.067	FGF2
PI-3K cascade:FGFR4	1	40.8×	0.067	FGF2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 21 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of epithelial tube formation	2	267.5×	0.006	FGF2, PIK3CD
organ induction	2	114.6×	0.015	SPRY1, FGF2
negative regulation of fibroblast growth factor receptor signaling pathway	2	100.3×	0.015	SPRY1, FGF2
cardiac muscle tissue growth involved in heart morphogenesis	1	802.5×	0.022	S1PR1
growth factor dependent regulation of skeletal muscle satellite cell proliferation	1	802.5×	0.022	FGF2
diadenosine triphosphate catabolic process	1	802.5×	0.022	FHIT
negative regulation of iron ion transmembrane transport	1	802.5×	0.022	HAMP
positive regulation of cell fate specification	1	802.5×	0.022	FGF2
establishment of integrated proviral latency	1	802.5×	0.022	LIG4
positive regulation of neuroepithelial cell differentiation	1	802.5×	0.022	FGF2
regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	1	802.5×	0.022	FGF2
negative regulation of iron export across plasma membrane	1	802.5×	0.022	HAMP
negative regulation of intestinal absorption	1	802.5×	0.022	HAMP
lamellipodium assembly	2	42.2×	0.022	ABLIM2, S1PR1
natural killer cell chemotaxis	1	401.2×	0.023	PIK3CD
positive regulation of inner ear auditory receptor cell differentiation	1	401.2×	0.023	FGF2
regulation of retinal cell programmed cell death	1	401.2×	0.023	FGF2
epithelial to mesenchymal transition involved in cardiac fibroblast development	1	401.2×	0.023	SPRY1
nephron tubule epithelial cell differentiation	1	401.2×	0.023	MTSS1
regulation of cell migration involved in sprouting angiogenesis	1	401.2×	0.023	FGF2
regulation of postsynaptic cytosolic calcium ion concentration	1	401.2×	0.023	GRID2IP
positive regulation of lens fiber cell differentiation	1	401.2×	0.023	FGF2
response to wortmannin	1	401.2×	0.023	FGF2
positive regulation of chromosome organization	1	401.2×	0.023	LIG4
ERK1 and ERK2 cascade	2	30.3×	0.023	SPRY1, FGF2
stem cell proliferation	2	29.7×	0.023	FGF2, LIG4
cell adhesion	4	7.1×	0.023	PCDH15, MTSS1, S1PR1, NCAM1
purine nucleotide metabolic process	1	267.5×	0.025	FHIT
corticotropin hormone secreting cell differentiation	1	267.5×	0.025	FGF2
angiogenesis involved in coronary vascular morphogenesis	1	267.5×	0.025	FGF2

Therapeutics

Drugs indicated for this disease

4 approved, 22 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Clindamycin Phosphate	Approved (phase 4)
Eluxadoline	Approved (phase 4)
Linaclotide	Approved (phase 4)
Lubiprostone	Approved (phase 4)
Alosetron	Phase 3 (in late-stage trials)
Anise Oil	Phase 3 (in late-stage trials)
Asimadoline	Phase 3 (in late-stage trials)
Bifidobacterium Spp.	Phase 3 (in late-stage trials)
Dexloxiglumide	Phase 3 (in late-stage trials)
Ebastine	Phase 3 (in late-stage trials)
Ethosuximide	Phase 3 (in late-stage trials)
Glucosamine	Phase 3 (in late-stage trials)
Ibodutant	Phase 3 (in late-stage trials)
Lactobacillus Acidophilus	Phase 3 (in late-stage trials)
Maltodextrin	Phase 3 (in late-stage trials)
Mebeverine	Phase 3 (in late-stage trials)
Melatonin	Phase 3 (in late-stage trials)
Mesalamine	Phase 3 (in late-stage trials)
Mosapride	Phase 3 (in late-stage trials)
Ondansetron	Phase 3 (in late-stage trials)
Pectin	Phase 3 (in late-stage trials)
Plecanatide	Phase 3 (in late-stage trials)
Renzapride	Phase 3 (in late-stage trials)
Rifaximin	Phase 3 (in late-stage trials)
Starch	Phase 3 (in late-stage trials)
Tenapanor	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Charcoal, Activated, Chenodiol, Citalopram, Crofelemer, Dextromethorphan, Doxepin, Dronabinol, Fentanyl, Glutamine, Itopride, Lidocaine, Milnacipran, Naloxone, Nortriptyline, Pexacerfont, Pregabalin, Prucalopride, Ranolazine, Rifamycin, Rimegepant, St. John’S Wort, Trimebutine, Vibegron.

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 3 · Phased (≥1): 4 · Undrugged: 21

Druggability breadth: 10 of 25 evidence-associated genes (40%) 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
S1PR1	PONESIMOD
PIK3CD	IDELALISIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PIK3CD	66	4
S1PR1	13	4
FGF2	1	2
FHIT	1	3
SPRY1	0	0
PCDH15	0	0
HAMP	0	0
EPSTI1	0	0
HES6	0	0
GRID2IP	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PONESIMOD	4	S1PR1
SIPONIMOD	4	S1PR1
FINGOLIMOD	4	S1PR1
ETRASIMOD	4	S1PR1
OZANIMOD	4	S1PR1
FINGOLIMOD HYDROCHLORIDE	4	S1PR1
IDELALISIB	4	PIK3CD
ALPELISIB	4	PIK3CD
DUVELISIB	4	PIK3CD
COPANLISIB	4	PIK3CD
UMBRALISIB	4	PIK3CD
CAFFEINE	4	PIK3CD
THEOPHYLLINE	4	PIK3CD
COPANLISIB HYDROCHLORIDE	4	PIK3CD
LENIOLISIB	4	PIK3CD
INAVOLISIB	4	PIK3CD
SUNITINIB	4	PIK3CD
DASATINIB	4	PIK3CD
CENERIMOD	3	S1PR1
SURAMIN	3	FHIT
DACTOLISIB	3	PIK3CD
BUPARLISIB	3	PIK3CD
TASELISIB	3	PIK3CD
PARSACLISIB	3	PIK3CD
POVORCITINIB	3	PIK3CD
GEDATOLISIB	3	PIK3CD
LESTAURTINIB	3	PIK3CD
AMISELIMOD	2	S1PR1
NIGULDIPINE	2	S1PR1
ICANBELIMOD	2	S1PR1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

Symbol	Assays	Type breakdown
PIK3CD	1,111	Binding:1094, ADMET:8, Functional:8, Toxicity:1
S1PR1	385	Functional:194, Binding:191
FGF2	35	Binding:35
FHIT	21	Binding:19, ADMET:2
PCDH15	9	Binding:9
HAMP	9	Binding:9
LIG4	2	Binding:2
NCAM1	2	Binding:2
HLA-C	1	Binding:1
KDELR2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
HECW1	2.3.2.26	HECT-type E3 ubiquitin transferase
DPH5	2.1.1.314	diphthine methyl ester synthase
FHIT	3.6.1.29	bis(5’-adenosyl)-triphosphatase
LIG4	6.5.1.1	DNA ligase (ATP)
PIK3CD	2.7.1.137, 2.7.1.153, 2.7.11.1	phosphatidylinositol 3-kinase, phosphatidylinositol-4,5-bisphosphate 3-kinase, non-specific serine/threonine protein kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
S1PR1	385
PIK3CD	1,111

Pharmacogenomics

Cohort genes with a PharmGKB record: 23; 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)
PONESIMOD	4	S1PR1
SIPONIMOD	4	S1PR1
FINGOLIMOD	4	S1PR1
ETRASIMOD	4	S1PR1
OZANIMOD	4	S1PR1
FINGOLIMOD HYDROCHLORIDE	4	S1PR1
IDELALISIB	4	PIK3CD
ALPELISIB	4	PIK3CD
DUVELISIB	4	PIK3CD
COPANLISIB	4	PIK3CD
UMBRALISIB	4	PIK3CD
CAFFEINE	4	PIK3CD
THEOPHYLLINE	4	PIK3CD
COPANLISIB HYDROCHLORIDE	4	PIK3CD
LENIOLISIB	4	PIK3CD
INAVOLISIB	4	PIK3CD
SUNITINIB	4	PIK3CD
DASATINIB	4	PIK3CD
CENERIMOD	3	S1PR1
SURAMIN	3	FHIT
DACTOLISIB	3	PIK3CD
BUPARLISIB	3	PIK3CD
TASELISIB	3	PIK3CD
PARSACLISIB	3	PIK3CD
POVORCITINIB	3	PIK3CD
GEDATOLISIB	3	PIK3CD
LESTAURTINIB	3	PIK3CD
AMISELIMOD	2	S1PR1
NIGULDIPINE	2	S1PR1
ICANBELIMOD	2	S1PR1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	S1PR1, PIK3CD
B	Phased (≥1) drug, not yet approved	2	FGF2, FHIT
C	Druggable family + PDB, no drug	3	HLA-C, LIG4, NCAM1
D	Druggable family + AlphaFold only, no drug	1	DPH5
E	Difficult family or no structure, no drug	17	SPRY1, PCDH15, HAMP, EPSTI1, HES6, GRID2IP, ABLIM2, MTSS1, HECW1, CPNE8 (+7 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
NUDT6	0	FGF2
SPRY1	0	—
PCDH15	9	—
HAMP	9	—
EPSTI1	0	—
HES6	0	—
GRID2IP	0	—
ABLIM2	0	—
MTSS1	0	—
HECW1	0	—
CPNE8	0	—
DPH5	0	—
FAM98A	0	—
WSCD1	0	—
NALF1	0	—
MIR5196	0	—
HPN-AS1	0	—
HLA-C	1	—
KDELR2	1	—
LIG4	2	—
NCAM1	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 805.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	573
PHASE2	89
PHASE4	53
PHASE3	38
PHASE1	23
PHASE2/PHASE3	18
PHASE1/PHASE2	8
EARLY_PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06271538	PHASE4	RECRUITING	Evaluation of Efficacy of Skål Pro Powder on Symptoms of Irritable Bowel Syndrome
NCT07426705	PHASE4	NOT_YET_RECRUITING	Effect of Multispecies Probiotic Supplementation on the Efficacy of Rifaximin α Therapy in Patients With Small Intestinal Bacterial Overgrowth (SIBO): a Randomized Placebo-controlled Trial
NCT07431957	PHASE4	NOT_YET_RECRUITING	Efficacy and Safety of Linaclotide in Chronic Constipation
NCT00331994	PHASE4	COMPLETED	EFESO - EFficacy Enterogermina Small Intestinal Bacterial Overgrowth
NCT00370032	PHASE4	COMPLETED	Study to Assess the Effect Of Alosetron On Mucosal Blood Flow
NCT00401258	PHASE4	COMPLETED	An Open-Label Trial of Duloxetine for the Treatment of Irritable Bowel Syndrome
NCT00418340	PHASE4	UNKNOWN	Manipulation of Visceral Sensitivity and Immune System in IBS
NCT00542295	PHASE4	COMPLETED	Efficacy and Safety of Meteospasmyl® in Irritable Bowel Syndrome
NCT00543478	PHASE4	UNKNOWN	Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome
NCT00610909	PHASE4	COMPLETED	Paroxetine - Controlled Release in the Treatment of Irritable Bowel Syndrome (IBS)
NCT00693732	PHASE4	COMPLETED	Validation of Surrogate Measures in Irritable Bowel Syndrome (IBS)
NCT00779493	PHASE4	COMPLETED	Curcumin (Tumeric) in the Treatment of Irritable Bowel Syndrome: A Randomized-Controlled Trial
NCT00918411	PHASE4	COMPLETED	A Preliminary Study to Explore Clinical Endpoints in Patients (Male) With Diarrhea-predominant Irritable Bowel Syndrome
NCT00934973	PHASE4	COMPLETED	Management of Irritable Bowel Syndrome in Primary Care (MIBS Trial)
NCT00961298	PHASE4	COMPLETED	An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder
NCT01139736	PHASE4	COMPLETED	Manipulation of Visceral Hypersensitivity With Probiotic Bacteria in Irritable Bowel Syndrome
NCT01144832	PHASE4	COMPLETED	Irritable Bowel Syndrome (IBS) Treatment With H1-receptor Antagonists
NCT01225237	PHASE4	COMPLETED	A Study to Evaluate Efficacy of Ramosetron on Diarrhea-predominant Irritable Bowel Syndrome (IBS) in Male Patients
NCT01331213	PHASE4	COMPLETED	Pregabalin on Colonic Motor and Sensory Function in Constipation Predominant Irritable Bowel Syndrome
NCT01337609	PHASE4	TERMINATED	Study of Probiotic GanedenBC30 for Irritable Bowel Syndrome and Major Depressive Disorder
NCT01404923	PHASE4	COMPLETED	Effectiveness of On-demand Meteospasmyl® Use in Irritable Bowel Syndrome (IBS)
NCT01507922	PHASE4	COMPLETED	Comparative Efficacy and Safety of Fenoverine
NCT01542268	PHASE4	UNKNOWN	Effect of Pentoxifylline on Tight Junctions (TJs) of Intestinal Mucosa in Patients With Irritable Bowel Syndrome(IBS)
NCT01551225	PHASE4	COMPLETED	Escitalopram Trial for Irritable Bowel Syndrome (IBS) Patients With Panic Disorder
NCT01629212	PHASE4	UNKNOWN	Comparison of the Efficacy and Safety of Tiropramide and Octylonium in the Treatment of Irritable Bowel Syndrome
NCT01638208	PHASE4	UNKNOWN	Changes in Gastrointestinal Microbiota Using VSL#3 in Patients With IBS-D
NCT01641341	PHASE4	COMPLETED	Irritable Bowel Syndrome Evaluation and Treatment in Primary Care
NCT01667627	PHASE4	COMPLETED	Probiotic in Irritable Bowel Syndrome (IBS) Patients With Diarrhea
NCT01678911	PHASE4	TERMINATED	Efficacy of Gralise® for Chronic Pelvic Pain
NCT01754493	PHASE4	COMPLETED	Open Trial of Duloxetine in Outpatients With Irritable Bowel Syndrome Symptoms and Co-Morbid Major Depression
NCT01779765	PHASE4	UNKNOWN	The Efficacy of Hydrolyzed Guar Gum ( PHGG) in the Treatment of Patients With Irritable Bowel Syndrome (IBS)
NCT01886781	PHASE4	COMPLETED	Effect of Lactobacillus Plantarum 299v on Symptoms of Irritable Bowel Syndrome
NCT01887483	PHASE4	TERMINATED	Vetal Laban Intervention Trial Assessing Bowel Symptoms
NCT01908465	PHASE4	COMPLETED	Peripheral Histamine 1 Receptor Blockade in IBS: Multicenter Trial
NCT02077699	PHASE4	COMPLETED	Efficacy Evaluation of a Commercial Preparation Containing Lactobacillus Casei DG on the Reduction of the Painful Symptoms Related to the Irritable Bowel Syndrome (IBS). A Pilot Clinical Study
NCT02386904	PHASE4	UNKNOWN	Safety and Therapeutic Efficacy of Phosphate Enema (Kleen Enema) in Patients Undergoing Sigmoidoscopy
NCT02565550	PHASE4	UNKNOWN	Is Microbiota Community Associated With Clinical Response to a Low FODMAP Diet in Patients With Irritable Bowel Syndrome
NCT02566876	PHASE4	COMPLETED	Bifidobacteria In Children With Abdominal Pain-Associated Functional Gastrointestinal Disorders
NCT02573844	PHASE4	COMPLETED	Pain Relief In Irritable Bowel Syndrome
NCT02937506	PHASE4	COMPLETED	Patient Satisfaction With Propofol for Out Patient Colonoscopy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RIFAXIMIN	4	9
ELUXADOLINE	4	5
INULIN	4	5
LUBIPROSTONE	4	5
MESALAMINE	4	5
RAMOSETRON	4	5
LINACLOTIDE	4	4
METHYLCELLULOSE	4	4
PINAVERIUM	4	4
ALOSETRON	4	3
DULOXETINE	4	3
EBASTINE	4	3
TEGASEROD	4	3
CROFELEMER	4	2
DESIPRAMINE	4	2
DRONABINOL	4	2
NORTRIPTYLINE	4	2
SIMETHICONE	4	2
AMITRIPTYLINE	4	1
AMITRIPTYLINE HYDROCHLORIDE	4	1
CITALOPRAM	4	1
CITALOPRAM HYDROBROMIDE	4	1
COLESEVELAM	4	1
DEXTROMETHORPHAN	4	1
DEXTROMETHORPHAN HYDROBROMIDE	4	1
DEXTROSE	4	1
DOXEPIN	4	1
ESCITALOPRAM	4	1
ETHOSUXIMIDE	4	1
GABAPENTIN	4	1