WDR37

Summary

WDR37 (WD repeat domain 37, HGNC:31406) is a protein-coding gene on chromosome 10p15.3, encoding WD repeat-containing protein 37 (Q9Y2I8). Required for normal ER Ca2+ handling in lymphocytes.

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation.

Source: NCBI Gene 22884 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurooculocardiogenitourinary syndrome (Definitive, ClinGen)
• GWAS associations: 8
• Clinical variants (ClinVar): 149 total — 1 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 28
• MANE Select transcript: NM_014023

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31406
Approved symbol	WDR37
Name	WD repeat domain 37
Location	10p15.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0982
Ensembl gene	ENSG00000047056
Ensembl biotype	protein_coding
OMIM	618586
Entrez	22884

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 20 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000263150, ENST00000358220, ENST00000381329, ENST00000436154, ENST00000482165, ENST00000650072, ENST00000704638, ENST00000704657, ENST00000704658, ENST00000704671, ENST00000704672, ENST00000704673, ENST00000704674, ENST00000704675, ENST00000704738, ENST00000704739, ENST00000879931, ENST00000879932, ENST00000879933, ENST00000879934, ENST00000879935, ENST00000879936, ENST00000879937, ENST00000958756, ENST00000958757, ENST00000958758, ENST00000958759

RefSeq mRNA: 1 — MANE Select: NM_014023 NM_014023

CCDS: CCDS7057

Canonical transcript exons

ENST00000263150 — 14 exons

Exon	Start	End
ENSE00000688123	1086286	1086357
ENSE00000688127	1093452	1093496
ENSE00000688133	1103602	1103836
ENSE00000827685	1077907	1078003
ENSE00000984847	1080011	1080106
ENSE00000984849	1080412	1080476
ENSE00000984852	1084403	1084538
ENSE00001094546	1105126	1105267
ENSE00001230243	1072116	1072293
ENSE00001910277	1056385	1056968
ENSE00003507238	1124218	1124352
ENSE00003688373	1124910	1125024
ENSE00003786118	1096170	1096246
ENSE00003992074	1129213	1132372

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 94.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7760 / max 144.2269, expressed in 1815 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103434	9.5829	1637
103435	8.0850	1709
103433	2.0475	1107
103438	0.0522	5
103437	0.0085	3

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.83	gold quality
tibia	UBERON:0000979	90.80	gold quality
middle temporal gyrus	UBERON:0002771	90.44	gold quality
esophagus squamous epithelium	UBERON:0006920	89.61	silver quality
parietal pleura	UBERON:0002400	89.18	gold quality
tendon of biceps brachii	UBERON:0008188	89.09	silver quality
granulocyte	CL:0000094	88.90	gold quality
amniotic fluid	UBERON:0000173	88.71	silver quality
pleura	UBERON:0000977	88.23	gold quality
tibialis anterior	UBERON:0001385	87.67	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.33	gold quality
medial globus pallidus	UBERON:0002477	87.28	silver quality
stromal cell of endometrium	CL:0002255	86.94	gold quality
left ventricle myocardium	UBERON:0006566	86.88	silver quality
blood	UBERON:0000178	86.78	gold quality
palpebral conjunctiva	UBERON:0001812	86.72	gold quality
epithelium of esophagus	UBERON:0001976	86.66	silver quality
right adrenal gland cortex	UBERON:0035827	86.52	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.51	gold quality
left testis	UBERON:0004533	86.48	gold quality
germinal epithelium of ovary	UBERON:0001304	86.46	silver quality
visceral pleura	UBERON:0002401	86.40	gold quality
right testis	UBERON:0004534	86.29	gold quality
spleen	UBERON:0002106	86.18	gold quality
gastrocnemius	UBERON:0001388	86.06	gold quality
muscle of leg	UBERON:0001383	85.97	gold quality
right adrenal gland	UBERON:0001233	85.92	gold quality
heart left ventricle	UBERON:0002084	85.71	gold quality
prefrontal cortex	UBERON:0000451	85.63	gold quality
eye	UBERON:0000970	85.59	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

198 targeting WDR37, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281

Literature-anchored findings (GeneRIF, showing 5)

• Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. (PMID:31327508)
• Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. (PMID:31327510)
• Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. (PMID:32530092)
• Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. (PMID:33369122)
• Chemotherapy-Induced Senescence Reprogramming Promotes Nasopharyngeal Carcinoma Metastasis by circRNA-Mediated PKR Activation. (PMID:36683218)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr37	ENSDARG00000074611
mus_musculus	Wdr37	ENSMUSG00000021147
rattus_norvegicus	Wdr37	ENSRNOG00000016834
drosophila_melanogaster	Wdr37	FBGN0038617
caenorhabditis_elegans		WBGENE00015470

Paralogs (1): WDR12 (ENSG00000138442)

Protein

Protein identifiers

WD repeat-containing protein 37 — Q9Y2I8 (reviewed: Q9Y2I8)

All UniProt accessions (11): A0A3B3IT47, A0A994J4L3, A0A994J4T0, A0A994J4U2, A0A994J4W1, A0A994J593, Q9Y2I8, A0A994J7K6, A0A994J7K8, C9JGR9, E7EQ49

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal ER Ca2+ handling in lymphocytes. Together with PACS1, it plays an essential role in stabilizing peripheral lymphocyte populations.

Subunit / interactions. Forms homodimers. Interacts with PACS1. Interacts with PACS2.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652] An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y2I8-1	1	yes
Q9Y2I8-2	2
Q9Y2I8-3	3

RefSeq proteins (1): NP_054742* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400

UniProt features (30 total): sequence variant 12, repeat 7, compositionally biased region 4, splice variant 3, region of interest 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2I8-F1	78.86	0.59

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 259 (showing top): ACTACCT_MIR196A_MIR196B, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_LYMPHOCYTE_HOMEOSTASIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_FOREBRAIN_DEVELOPMENT, GGGCATT_MIR365, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_HEAD_DEVELOPMENT, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_TELENCEPHALON_DEVELOPMENT, chr10p15, GOBP_LEUKOCYTE_HOMEOSTASIS

GO Biological Process (2): lymphocyte homeostasis (GO:0002260), corpus callosum development (GO:0022038)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
leukocyte homeostasis	1
telencephalon development	1
anatomical structure development	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2254 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR37	DIP2C	Q9Y2E4	604
WDR37	ARMC8	Q8IUR7	588
WDR37	WDR47	O94967	570
WDR37	TMEM60	Q9H2L4	559
WDR37	DNAI3	Q8IWG1	553
WDR37	PACS1	Q6VY07	542
WDR37	ERICH5	Q6P6B1	520
WDR37	PHACTR1	Q9C0D0	496
WDR37	DNAI4	Q5VTH9	461
WDR37	LRRC45	Q96CN5	460
WDR37	DCAF12	Q5T6F0	457
WDR37	SMTNL2	Q2TAL5	453
WDR37	RMND5A	Q9H871	433
WDR37	WDR72	Q3MJ13	428
WDR37	WDR49	Q8IV35	425

IntAct

44 interactions, top by confidence:

A	B	Type	Score
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
LRRC46	TFPT	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
WDR37	CLUH	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
CAPN2	MYO9A	psi-mi:“MI:0914”(association)	0.530
SGF29	MATN2	psi-mi:“MI:0914”(association)	0.530
WDR37	EZR	psi-mi:“MI:0915”(physical association)	0.400
WDR37	H1-1	psi-mi:“MI:0915”(physical association)	0.400
SFN	WDR37	psi-mi:“MI:0915”(physical association)	0.400
EWSR1	WDR37	psi-mi:“MI:0915”(physical association)	0.370
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
IQCF1	TBC1D4	psi-mi:“MI:0914”(association)	0.350
SGF29	DTNB	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
SGF29	USP27X	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
MED13L	IGKV1-8	psi-mi:“MI:0914”(association)	0.350
SNRPC	DDX39A	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350

BioGRID (108): WDR37 (Affinity Capture-RNA), WDR37 (Affinity Capture-RNA), CCT3 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CLUH (Affinity Capture-MS), TCP1 (Affinity Capture-MS), PACS2 (Affinity Capture-MS), PACS1 (Affinity Capture-MS), SETD2 (Affinity Capture-MS), WDR37 (Affinity Capture-MS), WDR37 (Affinity Capture-MS), WDR37 (Two-hybrid)

ESM2 similar proteins: A0MQH0, A4II29, A4IIX9, E9PTA2, O94826, P24786, Q0VC93, Q13507, Q16288, Q17QS6, Q25BN1, Q3ULA2, Q502M6, Q59H18, Q5GIG6, Q5IFJ9, Q5IS37, Q5IS82, Q5U5A6, Q5ZLX4, Q6DFV5, Q6GPR5, Q6GQW0, Q6TUI4, Q75Q39, Q7T3X9, Q7T3Y0, Q7TQP6, Q7Z6K4, Q7Z713, Q862Z2, Q8BPU7, Q8K4Q0, Q8N122, Q8VBX0, Q8WWX0, Q8WXK3, Q91987, Q91YD4, Q91ZA8

Diamond homologs: A1CF18, A4IIX9, B3MHX6, B3NLK7, B4GIU9, B4HN85, B4J9K1, B4KQU8, B4MYI5, B4P528, B5DG67, B6HP56, D3BUN1, D5GBI7, F1DLK1, P38262, Q09731, Q0UXP3, Q24371, Q28XF0, Q2HJH6, Q5I0B9, Q5R650, Q5RF51, Q5RHI5, Q6DDF0, Q6PE01, Q6ZJX0, Q758R7, Q7K0Y1, Q7RY68, Q8CBE3, Q8I0F4, Q8VZY6, Q8VZY7, Q96DI7, Q99KP6, Q9FUY2, Q9JMJ4, Q9LT47

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	152.3×	1e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	134.3×	2e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	134.3×	2e-12
Activation of BH3-only proteins	7	99.3×	2e-11
RHO GTPases activate PKNs	7	63.4×	3e-10
Intrinsic Pathway for Apoptosis	7	58.6×	5e-10
FOXO-mediated transcription	5	48.0×	6e-07
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	39.7×	3e-11

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	47.8×	1e-06
intracellular protein localization	7	15.9×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

149 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	4
Uncertain significance	82
Likely benign	35
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
980370	GRCh37/hg19 10p15.3(chr10:100026-1281266)x1	Pathogenic
1175763	NM_014023.4(WDR37):c.406A>T (p.Ser136Cys)	Likely pathogenic
1279922	NM_014023.4(WDR37):c.778G>A (p.Asp260Asn)	Likely pathogenic
2506456	NM_014023.4(WDR37):c.727-27_727-24del	Likely pathogenic
633616	NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	Likely pathogenic

SpliceAI

3196 predictions. Top by Δscore:

Variant	Effect	Δscore
10:1072294:G:GG	donor_gain	1.0000
10:1077904:CAGGA:C	acceptor_loss	1.0000
10:1077905:A:AG	acceptor_gain	1.0000
10:1077905:A:AT	acceptor_loss	1.0000
10:1077906:G:GG	acceptor_gain	1.0000
10:1077999:AGAAT:A	donor_gain	1.0000
10:1078000:GAAT:G	donor_gain	1.0000
10:1078000:GAATG:G	donor_gain	1.0000
10:1078001:AAT:A	donor_gain	1.0000
10:1078002:AT:A	donor_gain	1.0000
10:1078003:TG:T	donor_loss	1.0000
10:1078004:G:GG	donor_gain	1.0000
10:1078004:GT:G	donor_loss	1.0000
10:1078005:T:G	donor_loss	1.0000
10:1078006:GAGTA:G	donor_loss	1.0000
10:1080006:CCCAG:C	acceptor_loss	1.0000
10:1080007:CCAGT:C	acceptor_loss	1.0000
10:1080009:A:AG	acceptor_gain	1.0000
10:1080009:A:C	acceptor_loss	1.0000
10:1080009:AGTAC:A	acceptor_gain	1.0000
10:1080010:G:GA	acceptor_gain	1.0000
10:1080010:GT:G	acceptor_gain	1.0000
10:1080010:GTA:G	acceptor_gain	1.0000
10:1080010:GTAC:G	acceptor_gain	1.0000
10:1080010:GTACG:G	acceptor_gain	1.0000
10:1080013:C:G	acceptor_gain	1.0000
10:1080106:GGTA:G	donor_loss	1.0000
10:1080410:A:AG	acceptor_gain	1.0000
10:1080411:G:GG	acceptor_gain	1.0000
10:1080411:GCCA:G	acceptor_gain	1.0000

AlphaMissense

3229 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:1077941:T:C	L58P	1.000
10:1077950:T:C	L61P	1.000
10:1077962:T:A	I65K	1.000
10:1077973:T:C	F69L	1.000
10:1077975:T:A	F69L	1.000
10:1077975:T:G	F69L	1.000
10:1077983:T:C	L72P	1.000
10:1080447:A:G	K123E	1.000
10:1080449:G:C	K123N	1.000
10:1080449:G:T	K123N	1.000
10:1080456:T:G	Y126D	1.000
10:1080459:A:G	K127E	1.000
10:1080461:G:C	K127N	1.000
10:1080461:G:T	K127N	1.000
10:1084404:T:C	I133T	1.000
10:1084404:T:G	I133S	1.000
10:1084407:T:A	V134D	1.000
10:1084416:T:C	F137S	1.000
10:1084476:A:T	D157V	1.000
10:1084478:G:C	G158R	1.000
10:1084479:G:A	G158D	1.000
10:1084484:T:A	W160R	1.000
10:1084484:T:C	W160R	1.000
10:1084486:G:C	W160C	1.000
10:1084486:G:T	W160C	1.000
10:1084523:G:A	G173R	1.000
10:1084523:G:C	G173R	1.000
10:1084523:G:T	G173W	1.000
10:1084524:G:A	G173E	1.000
10:1084530:C:A	A175E	1.000

dbSNP variants (sampled 300 via entrez): RS1000045348 (10:1077018 G>C,T), RS1000047493 (10:1074719 A>G), RS1000072887 (10:1068734 A>G,T), RS1000119451 (10:1080169 G>A), RS1000124905 (10:1105529 G>A), RS1000130747 (10:1088273 C>G), RS1000150873 (10:1069097 G>A,T), RS1000164550 (10:1116522 G>A), RS1000177811 (10:1083863 C>A), RS1000219271 (10:1121810 A>C,G), RS1000248007 (10:1126454 C>G), RS1000263317 (10:1093912 C>G), RS1000301684 (10:1088833 T>TA), RS1000322940 (10:1110574 C>T), RS1000333800 (10:1088502 G>A)

Disease associations

OMIM: gene MIM:618586 | disease phenotypes: MIM:618652, MIM:213000

GenCC curated gene-disease

Disease	Classification	Inheritance
neurooculocardiogenitourinary syndrome	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
neurooculocardiogenitourinary syndrome	Definitive	AD

Mondo (5): neurooculocardiogenitourinary syndrome (MONDO:0032850), intellectual disability (MONDO:0001071), coloboma (MONDO:0001476), epilepsy (MONDO:0005027), isolated cerebellar hypoplasia/agenesis (MONDO:0008939)

Orphanet (5): Neurooculocardiogenitourinary syndrome (Orphanet:684305), Isolated cerebellar agenesis (Orphanet:1398), OBSOLETE: Ocular coloboma (Orphanet:194), Cerebellar hypoplasia-tapetoretinal degeneration syndrome (Orphanet:2246), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000568	Microphthalmia
HP:0000589	Coloboma
HP:0000659	Peters anomaly
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001317	Abnormal cerebellum morphology
HP:0001344	Absent speech
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001640	Cardiomegaly
HP:0001643	Patent ductus arteriosus
HP:0001655	Patent foramen ovale
HP:0002714	Downturned corners of mouth
HP:0005180	Tricuspid regurgitation
HP:0005484	Secondary microcephaly
HP:0005989	Redundant neck skin
HP:0006610	Wide intermamillary distance
HP:0008689	Bilateral cryptorchidism
HP:0010490	Abnormality of the palmar creases

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000649_26	Chronic kidney disease	1.000000e-08
GCST001859_47	Thiazide-induced adverse metabolic effects in hypertensive patients	5.000000e-06
GCST003372_23	Glomerular filtration rate (creatinine)	1.000000e-11
GCST003374_7	Chronic kidney disease	4.000000e-07
GCST003401_3	Glomerular filtration rate in non diabetics (creatinine)	5.000000e-08
GCST004292_25	Glomerular filtration rate (creatinine)	1.000000e-11
GCST007344_66	Estimated glomerular filtration rate	2.000000e-18
GCST007876_58	Estimated glomerular filtration rate	6.000000e-24

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
D004827	Epilepsy	C10.228.140.490
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C562568	Cerebellar Hypoplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Ozone	affects cotreatment, affects expression, increases abundance	3
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
methacrylaldehyde	affects cotreatment, affects expression, increases abundance	2
Acrolein	affects cotreatment, affects expression, increases abundance	2
Air Pollutants	affects cotreatment, affects expression, increases abundance	2
Aflatoxin B1	affects methylation, decreases methylation	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, affects expression, increases abundance	1
trichostatin A	decreases expression	1
aflatoxin B2	affects methylation	1
diallyl trisulfide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
tebuconazole	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Leflunomide	decreases expression	1
Arsenic	affects methylation	1
Formaldehyde	decreases expression	1
Lead	decreases expression	1
Phenylmercuric Acetate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tretinoin	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TX88	HAP1 WDR37 (-) 1	Cancer cell line	Male
CVCL_TX89	HAP1 WDR37 (-) 2	Cancer cell line	Male
CVCL_TX90	HAP1 WDR37 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

197 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders