DHRS1

gene
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Also known as FLJ25430MGC20204SDR19C1

Summary

DHRS1 (dehydrogenase/reductase 1, HGNC:16445) is a protein-coding gene on chromosome 14q12, encoding Dehydrogenase/reductase SDR family member 1 (Q96LJ7). NADPH-dependent oxidoreductase which catalyzes the reduction of steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro.

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Source: NCBI Gene 115817 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 57 total
  • MANE Select transcript: NM_001136050

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16445
Approved symbolDHRS1
Namedehydrogenase/reductase 1
Location14q12
Locus typegene with protein product
StatusApproved
AliasesFLJ25430, MGC20204, SDR19C1
Ensembl geneENSG00000157379
Ensembl biotypeprotein_coding
OMIM610410
Entrez115817

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 7 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000288111, ENST00000396813, ENST00000558114, ENST00000558340, ENST00000559084, ENST00000559088, ENST00000559483, ENST00000560991, ENST00000561137, ENST00000561273, ENST00000561281, ENST00000860257, ENST00000860258, ENST00000860259, ENST00000941472, ENST00000941473

RefSeq mRNA: 2 — MANE Select: NM_001136050 NM_001136050, NM_138452

CCDS: CCDS9623

Canonical transcript exons

ENST00000288111 — 9 exons

ExonStartEnd
ENSE000010321962429265224292784
ENSE000025419542429958124299780
ENSE000034696202429059824290995
ENSE000034984442429113924291219
ENSE000035260172429650924296588
ENSE000036155632429673824296881
ENSE000036261132429895724299130
ENSE000036414182429155624291625
ENSE000036917942429218424292330

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 98.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9688 / max 127.4112, expressed in 1795 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
14258312.59451794
1425820.3743147

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
lower esophagus mucosaUBERON:003583498.41gold quality
esophagus mucosaUBERON:000246997.66gold quality
right lobe of liverUBERON:000111497.23gold quality
liverUBERON:000210796.20gold quality
duodenumUBERON:000211495.95gold quality
skin of legUBERON:000151195.64gold quality
zone of skinUBERON:000001495.46gold quality
skin of abdomenUBERON:000141695.25gold quality
mucosa of transverse colonUBERON:000499194.21gold quality
vaginaUBERON:000099693.86gold quality
esophagusUBERON:000104393.01gold quality
minor salivary glandUBERON:000183093.00gold quality
saliva-secreting glandUBERON:000104492.93gold quality
small intestine Peyer’s patchUBERON:000345492.86gold quality
small intestineUBERON:000210892.69gold quality
spleenUBERON:000210692.38gold quality
transverse colonUBERON:000115792.21gold quality
olfactory segment of nasal mucosaUBERON:000538691.75gold quality
ectocervixUBERON:001224991.25gold quality
left lobe of thyroid glandUBERON:000112091.22gold quality
metanephros cortexUBERON:001053391.17gold quality
left adrenal glandUBERON:000123491.14gold quality
left adrenal gland cortexUBERON:003582591.03gold quality
right adrenal glandUBERON:000123390.98gold quality
right adrenal gland cortexUBERON:003582790.98gold quality
uterine cervixUBERON:000000290.95gold quality
prostate glandUBERON:000236790.92gold quality
adult mammalian kidneyUBERON:000008290.84gold quality
thyroid glandUBERON:000204690.83gold quality
intestineUBERON:000016090.77gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.56
E-CURD-10no107.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting DHRS1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-548N99.9871.944170
HSA-MIR-548AB99.9571.313488
HSA-MIR-55999.9572.283609
HSA-MIR-391099.9571.132227
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502
HSA-MIR-548H-5P99.9471.243488
HSA-MIR-548I99.9471.253481
HSA-MIR-548J-5P99.9471.143489
HSA-MIR-548O-5P99.9471.243488
HSA-MIR-548W99.9471.243488
HSA-MIR-548Y99.9471.283514
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057

Literature-anchored findings (GeneRIF, showing 5)

  • novel human SDR-type dehydrogenase/reductase gene named Dehydrogenase/reductase (SDR family) member 1 (DHRS1) (PMID:12153138)
  • Data suggest that members of short chain dehydrogenase/reductase superfamily (human DHRS1; E coli galE) exhibit conserved residues and tertiary structure in active site domain that are essential for biocatalysis. (PMID:25052469)
  • DHRS1 was proven to be an NADPH-dependent reductase that is able to catalyse the in vitro reductive conversion of some steroids (estrone, androstene-3,17-dione and cortisone), as well as other endogenous substances and xenobiotics. (PMID:30031147)
  • Decreased DHRS1 expression is a novel predictor of poor survival in patients with hepatocellular carcinoma. (PMID:34498498)
  • Construction and validation of a immune-related prognostic gene DHRS1 in hepatocellular carcinoma based on bioinformatic analysis. (PMID:37861541)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriodhrs1ENSDARG00000054300
mus_musculusDhrs1ENSMUSG00000002332
rattus_norvegicusDhrs1ENSRNOG00000020264
drosophila_melanogasterCG31546FBGN0051546
drosophila_melanogasterCG31548FBGN0051548
caenorhabditis_elegansWBGENE00000973
caenorhabditis_elegansWBGENE00019109

Paralogs (13): RDH8 (ENSG00000080511), DHRS7 (ENSG00000100612), DHRS2 (ENSG00000100867), DHRS7B (ENSG00000109016), HSD11B1 (ENSG00000117594), HSDL2 (ENSG00000119471), DHRS4 (ENSG00000157326), CBR1 (ENSG00000159228), CBR3 (ENSG00000159231), HSD11B1L (ENSG00000167733), DHRS7C (ENSG00000184544), DHRS4L2 (ENSG00000187630), DHRS11 (ENSG00000278535)

Protein

Protein identifiers

Dehydrogenase/reductase SDR family member 1Q96LJ7 (reviewed: Q96LJ7)

Alternative names: Short chain dehydrogenase/reductase family 19C member 1

All UniProt accessions (2): Q96LJ7, H0YNC2

UniProt curated annotations — full annotation on UniProt →

Function. NADPH-dependent oxidoreductase which catalyzes the reduction of steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro. May have a role in steroid and/or xenobiotic metabolism.

Subcellular location. Endoplasmic reticulum.

Tissue specificity. Detected in heart, liver, adrenal glands, and at low levels in skeletal muscle, kidney, pancreas and brain.

Domain organisation. May be attached to the ER membrane by its C-terminus segment.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

RefSeq proteins (2): NP_001129522, NP_612461 (=MANE)

Domains & families (InterPro)

IDNameType
IPR002347SDR_famFamily
IPR036291NAD(P)-bd_dom_sfHomologous_superfamily

Pfam: PF00106

Catalyzed reactions (Rhea), 4 shown:

  • testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH + H(+) (RHEA:14981)
  • 17alpha-estradiol + NADP(+) = estrone + NADPH + H(+) (RHEA:16705)
  • isatin + NADPH + H(+) = 3-hydroxyindolin-2-one + NADP(+) (RHEA:68608)
  • prostaglandin E1 + NADPH + H(+) = prostaglandin F1 + NADP(+) (RHEA:68612)

UniProt features (41 total): helix 13, strand 7, binding site 6, turn 5, sequence conflict 3, modified residue 2, initiator methionine 1, chain 1, sequence variant 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
2QQ5X-RAY DIFFRACTION1.8

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96LJ7-F190.760.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 163 (proton acceptor)

Ligand- & substrate-binding residues (6): 19; 64; 151; 163; 167; 198

Post-translational modifications (2): 2, 21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, LUCAS_HNF4A_TARGETS_UP, BILD_SRC_ONCOGENIC_SIGNATURE, chr14q12, GOLDRATH_ANTIGEN_RESPONSE, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, CADWELL_ATG16L1_TARGETS_DN, CAIRO_HEPATOBLASTOMA_DN, SANSOM_APC_TARGETS_DN, MODULE_88, MORF_PML

GO Biological Process (1): SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)

GO Molecular Function (6): carbonyl reductase (NADPH) activity (GO:0004090), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), testosterone dehydrogenase (NADP+) activity (GO:0047045), estradiol 17-alpha-dehydrogenase [NAD(P)+] activity (GO:0047881), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), signal recognition particle, endoplasmic reticulum targeting (GO:0005786)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
SRP-dependent cotranslational protein targeting to membrane1
protein-containing complex assembly1
alcohol dehydrogenase (NADP+) activity1
oxidoreductase activity, acting on CH-OH group of donors1
17-beta-hydroxysteroid dehydrogenase (NADP+) activity1
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor1
binding1
catalytic activity1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
signal recognition particle1

Protein interactions and networks

STRING

2933 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DHRS1COX18Q8N8Q8457
DHRS1DHRS7BQ6IAN0448
DHRS1DHRS7Q9Y394437
DHRS1TTC38Q5R3I4430
DHRS1RDH10Q8IZV5427
DHRS1RRN3Q9NYV6418
DHRS1DHRS9Q9BPW9396
DHRS1FAR2Q96K12379
DHRS1C1orf226A1L170370
DHRS1ZNF575Q86XF7368
DHRS1PRELID3BQ9Y3B1367
DHRS1RABGGTAQ92696359
DHRS1IYDQ6PHW0358
DHRS1TEN1Q86WV5351
DHRS1ZMAT2Q96NC0348

IntAct

104 interactions, top by confidence:

ABTypeScore
KRTAP10-8DHRS1psi-mi:“MI:0915”(physical association)0.720
DHRS1KRTAP10-8psi-mi:“MI:0915”(physical association)0.720
DHRS1MDFIpsi-mi:“MI:0915”(physical association)0.670
MDFIDHRS1psi-mi:“MI:0915”(physical association)0.670
DHRS1psi-mi:“MI:0915”(physical association)0.560
DHRS1KRTAP5-9psi-mi:“MI:0915”(physical association)0.560
DHRS1NOTCH2NLApsi-mi:“MI:0915”(physical association)0.560
DHRS1KRTAP3-2psi-mi:“MI:0915”(physical association)0.560
DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP5-9DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP3-2DHRS1psi-mi:“MI:0915”(physical association)0.560
NOTCH2NLADHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP12-2DHRS1psi-mi:“MI:0915”(physical association)0.560
MTUS2DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP6-3DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP1-3DHRS1psi-mi:“MI:0915”(physical association)0.560
KRT34DHRS1psi-mi:“MI:0915”(physical association)0.560
NOTCH2NLCDHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP1-1DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP5-1DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP12-3DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP5-2DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP12-1DHRS1psi-mi:“MI:0915”(physical association)0.560
KRTAP6-2DHRS1psi-mi:“MI:0915”(physical association)0.560

BioGRID (56): DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Proximity Label-MS), DHRS1 (Proximity Label-MS), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), DHRS1 (Two-hybrid), LCE2B (Two-hybrid)

ESM2 similar proteins: A0A0H3KNE7, A0A3Q8GL18, A0A3Q8GLE8, A0A3Q8GYY4, A0A7N9VSG0, A0A7T8F1N2, A0A8F5XX49, A0A8I6GJ95, A0AAT9JA24, A5W4G5, A8C7R7, B8A5W4, D4A2B7, E9Q3D4, E9QUT3, G4N290, O35048, P0C622, P14061, P23102, P37440, P51656, P51661, P9WES5, P9WGQ2, P9WGQ3, Q08632, Q13268, Q17QU7, Q17QW3, Q4WR19, Q5C9I9, Q5R9W5, Q5SS80, Q7FAE1, Q7ZY31, Q8SPU8, Q8VBZ0, Q8XBJ4, Q91WL8

Diamond homologs: A0A097ZPE8, A0A0S2CGD3, A0A144Y7G4, A0A162J3X8, A0A1U8QWA2, A0A1W5SR39, A0A2I1C3V7, A4FUZ6, A6SSW9, A7AZH2, A7IQF2, A7LB60, D3U1D9, G4N290, I6Y778, M1W848, P07772, P08088, P0A2D1, P0A2D2, P0DKC5, P0DKC6, P0DXE1, P13859, P14061, P14802, P15047, P16542, P28643, P31808, P35320, P37440, P42317, P51656, P51657, P52037, P55541, P59837, P66778, P73574

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 39 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:

PathwayPartnersFoldFDR
Keratinization1934.1×2e-24

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance44
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1453 predictions. Top by Δscore:

VariantEffectΔscore
14:24291626:C:CCacceptor_gain1.0000
14:24292179:CCAA:Cdonor_loss1.0000
14:24292181:AAC:Adonor_loss1.0000
14:24292182:ACCT:Adonor_loss1.0000
14:24292183:C:Gdonor_loss1.0000
14:24292212:T:TAdonor_gain1.0000
14:24292215:T:TAdonor_gain1.0000
14:24292327:CACA:Cacceptor_gain1.0000
14:24292329:CA:Cacceptor_gain1.0000
14:24292331:C:CCacceptor_gain1.0000
14:24296504:CCCA:Cdonor_loss1.0000
14:24296506:CA:Cdonor_loss1.0000
14:24296508:C:CAdonor_loss1.0000
14:24296585:TCGT:Tacceptor_gain1.0000
14:24296586:CGT:Cacceptor_gain1.0000
14:24296586:CGTC:Cacceptor_gain1.0000
14:24296589:C:CCacceptor_gain1.0000
14:24299576:CTTAC:Cdonor_loss1.0000
14:24299577:TTA:Tdonor_loss1.0000
14:24299578:TACCT:Tdonor_loss1.0000
14:24299579:A:Tdonor_loss1.0000
14:24299580:C:Adonor_loss1.0000
14:24291621:TTGAA:Tacceptor_gain0.9900
14:24291622:TGAA:Tacceptor_gain0.9900
14:24292147:C:Adonor_gain0.9900
14:24292173:C:Adonor_gain0.9900
14:24292183:CCTG:Cdonor_gain0.9900
14:24292186:G:Adonor_gain0.9900
14:24292196:AGGAT:Adonor_gain0.9900
14:24292200:T:TAdonor_gain0.9900

AlphaMissense

2011 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:24296537:A:GW116R0.996
14:24296537:A:TW116R0.996
14:24296535:C:AW116C0.993
14:24296535:C:GW116C0.993
14:24292710:G:AS150F0.991
14:24292659:T:AK167I0.986
14:24292710:G:TS150Y0.985
14:24296559:G:CF108L0.983
14:24296559:G:TF108L0.983
14:24296561:A:GF108L0.983
14:24291584:A:CS232R0.982
14:24291584:A:TS232R0.982
14:24291586:T:GS232R0.982
14:24296536:C:GW116S0.981
14:24296759:G:CN91K0.981
14:24296759:G:TN91K0.981
14:24296763:A:TV90D0.980
14:24292759:C:AG134W0.978
14:24296558:A:GW109R0.977
14:24296558:A:TW109R0.977
14:24291582:C:TG233D0.975
14:24292653:G:TA169E0.975
14:24292758:C:TG134E0.975
14:24299048:C:TG20D0.975
14:24299055:C:GG18R0.975
14:24292245:G:AT198I0.974
14:24299006:A:TV34D0.974
14:24291582:C:AG233V0.973
14:24292264:A:GW192R0.973
14:24292264:A:TW192R0.973

dbSNP variants (sampled 300 via entrez): RS1000065403 (14:24290706 G>GCACCCCAGAACT), RS1000147165 (14:24297185 G>A), RS1000203991 (14:24299737 T>G), RS1000752062 (14:24291312 C>T), RS1000827936 (14:24299871 C>G,T), RS1000935069 (14:24298441 C>G), RS1001303626 (14:24297784 T>C), RS1001489980 (14:24294225 A>G), RS1001805162 (14:24297466 C>T), RS1002855739 (14:24290524 A>G), RS1003062732 (14:24293350 G>C,T), RS1003398510 (14:24291907 G>A), RS1003534757 (14:24291504 C>A,T), RS1004233335 (14:24296204 T>A), RS1004380258 (14:24299351 A>G)

Disease associations

OMIM: gene MIM:610410 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST002371_1Parent of origin effect on language impairment (paternal)4.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Acetaminophendecreases expression, increases expression3
Valproic Aciddecreases methylation, increases expression, decreases expression3
Cyclosporinedecreases expression3
sodium arsenitedecreases expression, increases expression2
cobaltous chloridedecreases expression2
Leflunomidedecreases expression2
aristolochic acid Iincreases expression1
methylmercuric chloridedecreases expression1
alpha phellandreneincreases expression1
triphenyl phosphateaffects expression1
pirinixic acidaffects binding, decreases expression, increases activity1
bisphenol Aaffects expression1
beta-lapachonedecreases expression, increases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
potassium chromate(VI)decreases expression1
4-aminophenylarsenoxideaffects binding, decreases reaction1
beta-methylcholineaffects expression1
perfluoro-n-nonanoic aciddecreases expression1
ICG 001decreases expression1
jinfukangincreases expression, affects cotreatment1
Arsenic Trioxideaffects binding, decreases reaction1
Benzo(a)pyrenedecreases expression1
Carbamazepineaffects expression1
Cisplatinaffects cotreatment, increases expression1
Curcumindecreases expression1
Diazinonincreases methylation1
Diurondecreases expression1
Ivermectindecreases expression1
NADPaffects binding, increases activity1
Thimerosaldecreases expression1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

CellosaurusNameCategorySex
CVCL_SK77HAP1 DHRS1 (-) 1Cancer cell lineMale
CVCL_XN25HAP1 DHRS1 (-) 2Cancer cell lineMale
CVCL_XN26HAP1 DHRS1 (-) 3Cancer cell lineMale
CVCL_XN27HAP1 DHRS1 (-) 4Cancer cell lineMale

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): specific language impairment 5