Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Summary

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (MONDO:0014034) is a disease caused by GATAD2B (GenCC Definitive), with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: GATAD2B (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 120
• Phenotypes (HPO): 48

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		4	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

48 HPO clinical features (Orphanet curated; top 48 by frequency):

HPO ID	Term	Frequency
HP:0000154	Wide mouth	Frequent (30-79%)
HP:0000219	Thin upper lip vermilion	Frequent (30-79%)
HP:0000273	Facial grimacing	Frequent (30-79%)
HP:0000322	Short philtrum	Frequent (30-79%)
HP:0000337	Broad forehead	Frequent (30-79%)
HP:0000455	Broad nasal tip	Frequent (30-79%)
HP:0000484	Hyperopic astigmatism	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000752	Hyperactivity	Frequent (30-79%)
HP:0001263	Global developmental delay	Frequent (30-79%)
HP:0002121	Generalized non-motor (absence) seizure	Frequent (30-79%)
HP:0002213	Fine hair	Frequent (30-79%)
HP:0002465	Poor speech	Frequent (30-79%)
HP:0002500	Abnormal cerebral white matter morphology	Frequent (30-79%)
HP:0008947	Floppy infant	Frequent (30-79%)
HP:0010864	Intellectual disability, severe	Frequent (30-79%)
HP:0012448	Delayed myelination	Frequent (30-79%)
HP:0100807	Long fingers	Frequent (30-79%)
HP:0000047	Hypospadias	Occasional (5-29%)
HP:0000218	High palate	Occasional (5-29%)
HP:0000286	Epicanthus	Occasional (5-29%)
HP:0000316	Hypertelorism	Occasional (5-29%)
HP:0000347	Micrognathia	Occasional (5-29%)
HP:0000483	Astigmatism	Occasional (5-29%)
HP:0000490	Deeply set eye	Occasional (5-29%)
HP:0000582	Upslanted palpebral fissure	Occasional (5-29%)
HP:0000609	Optic nerve hypoplasia	Occasional (5-29%)
HP:0000629	Periorbital fullness	Occasional (5-29%)
HP:0000637	Long palpebral fissure	Occasional (5-29%)
HP:0000729	Autistic behavior	Occasional (5-29%)
HP:0000742	Self-mutilation	Occasional (5-29%)
HP:0000744	Low frustration tolerance	Occasional (5-29%)
HP:0000748	Inappropriate laughter	Occasional (5-29%)
HP:0001382	Joint hypermobility	Occasional (5-29%)
HP:0001511	Intrauterine growth retardation	Occasional (5-29%)
HP:0001566	Widely-spaced maxillary central incisors	Occasional (5-29%)
HP:0002007	Frontal bossing	Occasional (5-29%)
HP:0002061	Lower limb spasticity	Occasional (5-29%)
HP:0002360	Sleep abnormality	Occasional (5-29%)
HP:0002546	Incomprehensible speech	Occasional (5-29%)
HP:0005280	Depressed nasal bridge	Occasional (5-29%)
HP:0008770	Obsessive-compulsive trait	Occasional (5-29%)
HP:0009836	Broad distal phalanx of finger	Occasional (5-29%)
HP:0010511	Long toe	Occasional (5-29%)
HP:0011968	Feeding difficulties	Occasional (5-29%)
HP:0012450	Chronic constipation	Occasional (5-29%)
HP:0045025	Narrow palpebral fissure	Occasional (5-29%)
HP:0100033	Tics	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Mondo ID	MONDO:0014034
OMIM	615074
Orphanet	363686
DOID	DOID:0070048
UMLS	C3554448
MedGen	767362
GARD	0012815
Is cancer (heuristic)	no

Also known as: autosomal dominant intellectual disability 18 · GAND syndrome · GATAD2B-associated neurodevelopmental disorder · intellectual disability, autosomal dominant 18 · intellectual disability, autosomal dominant type 18 · mental retardation, autosomal dominant 18 · mental retardation, autosomal dominant type 18 · MRD18 · severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Data availability: 120 ClinVar variants · 5 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, congenital stationary night blindness autosomal dominant 2, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Bardet-Biedl syndrome 11, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, short stature-brachydactyly-obesity-global developmental delay syndrome, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Leber congenital amaurosis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

120 retrieved; paginated sample, class counts are floors:

40 pathogenic, 30 uncertain significance, 25 likely pathogenic, 9 benign/likely benign, 6 conflicting classifications of pathogenicity, 4 pathogenic/likely pathogenic, 3 likely benign, 3 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1320103	NM_020699.4(GATAD2B):c.777_778del (p.Met259fs)	GATAD2B	Pathogenic	criteria provided, single submitter
1707715	NC_000001.10:g.(?153753742)(153791156_?)del	GATAD2B	Pathogenic	criteria provided, single submitter
211069	NM_020699.4(GATAD2B):c.981del (p.Thr328fs)	GATAD2B	Pathogenic	criteria provided, single submitter
2242008	NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
2429332	NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)	GATAD2B	Pathogenic	criteria provided, single submitter
2626894	NM_020699.4(GATAD2B):c.466-1G>C	GATAD2B	Pathogenic	criteria provided, single submitter
265610	NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)	GATAD2B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2695159	NM_020699.4(GATAD2B):c.646del (p.His216fs)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
280408	NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
2864432	NM_020699.4(GATAD2B):c.199C>T (p.Gln67Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
3254776	NM_020699.4(GATAD2B):c.251_257del (p.Arg84fs)	GATAD2B	Pathogenic	criteria provided, single submitter
3381764	NM_020699.4(GATAD2B):c.653_654dup (p.Gln219fs)	GATAD2B	Pathogenic	criteria provided, single submitter
373815	NM_020699.4(GATAD2B):c.432_435del (p.Glu144fs)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
374387	NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter)	GATAD2B	Pathogenic	criteria provided, single submitter
3765516	NM_020699.4(GATAD2B):c.1217-633_1419+490del	GATAD2B	Pathogenic	no assertion criteria provided
3777131	NM_020699.4(GATAD2B):c.465+2T>C	GATAD2B	Pathogenic	criteria provided, single submitter
379456	NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
381463	NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	GATAD2B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3901121	NM_020699.4(GATAD2B):c.1216+2T>C	GATAD2B	Pathogenic	criteria provided, single submitter
39665	NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
39666	GATAD2B, ASN195LYSfsTER30	GATAD2B	Pathogenic	no assertion criteria provided
419376	NM_020699.4(GATAD2B):c.918del (p.Pro307fs)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
419723	NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
430624	NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs)	GATAD2B	Pathogenic	no assertion criteria provided
430625	NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs)	GATAD2B	Pathogenic	no assertion criteria provided
432992	NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter)	GATAD2B	Pathogenic	criteria provided, single submitter
435288	NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
435290	NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)	GATAD2B	Pathogenic	criteria provided, multiple submitters, no conflicts
448968	NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter)	GATAD2B	Pathogenic	criteria provided, single submitter
584436	NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter)	GATAD2B	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · 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
GATAD2B	Definitive	Autosomal dominant	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GATAD2B	Orphanet:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GATAD2B	HGNC:30778	ENSG00000143614	Q8WXI9	Transcriptional repressor p66-beta	gencc,clinvar
JTB	HGNC:6201	ENSG00000143543	O76095	Protein JTB	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GATAD2B	Transcriptional repressor p66-beta	Transcriptional repressor.
JTB	Protein JTB	Required for normal cytokinesis during mitosis.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.0

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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GATAD2B	Transcription factor	no		Znf_GATA, Znf_NHR/GATA, P66_CC
JTB	Other/Unknown	no		JTB

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
colonic epithelium	1
corpus callosum	1
cortical plate	1
ileal mucosa	1
mucosa of sigmoid colon	1
parotid gland	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GATAD2B	134	ubiquitous	yes	colonic epithelium, corpus callosum, cortical plate
JTB	294	ubiquitous	marker	parotid gland, ileal mucosa, mucosa of sigmoid colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GATAD2B	2,083
JTB	405

Structural data

PDB: 1 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
JTB	O76095	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GATAD2B	Q8WXI9	59.85

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. Enrichment computed across 2 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Regulation of TP53 Activity through Acetylation	1	456.8×	0.009	GATAD2B
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	1	380.7×	0.009	GATAD2B
RNA Polymerase I Transcription Initiation	1	223.9×	0.009	GATAD2B
Regulation of PTEN gene transcription	1	178.4×	0.009	GATAD2B
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	1	152.3×	0.009	GATAD2B
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	1	146.4×	0.009	GATAD2B
NuRD complex assembly	1	141.0×	0.009	GATAD2B
Interaction of NuRD complexes with transcription factors	1	126.9×	0.009	GATAD2B
HDACs deacetylate histones	1	120.2×	0.009	GATAD2B
Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)	1	117.7×	0.009	GATAD2B
Potential therapeutics for SARS	1	114.2×	0.009	GATAD2B
Regulation of endogenous retroelements by KRAB-ZFP proteins	1	106.7×	0.009	GATAD2B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of cell fate specification	1	648.1×	0.008	GATAD2B
apoptotic mitochondrial changes	1	443.5×	0.008	JTB
regulation of stem cell differentiation	1	383.0×	0.008	GATAD2B
positive regulation of protein kinase activity	1	337.0×	0.008	JTB
mitotic cytokinesis	1	129.6×	0.017	JTB
mitotic cell cycle	1	66.9×	0.027	JTB
regulation of cell population proliferation	1	57.7×	0.027	JTB
chromatin remodeling	1	36.5×	0.037	GATAD2B
negative regulation of DNA-templated transcription	1	15.8×	0.076	GATAD2B
positive regulation of DNA-templated transcription	1	14.0×	0.077	GATAD2B
negative regulation of transcription by RNA polymerase II	1	8.9×	0.110	GATAD2B

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 1

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GATAD2B	1	2
JTB	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	GATAD2B

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
GATAD2B	7	Binding:7

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

1 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)
MOLIBRESIB	2	GATAD2B

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	GATAD2B
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	JTB

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
JTB	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.