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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
EPS8L3
(HGNC:21297)
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
 Limited
ADPRHL1
(HGNC:21303)
prostate cancer
(MONDO_0008315)
 Limited
HMCN2
(HGNC:21293)
periodontitis
(MONDO_0005076)
 Limited
CILK1
(HGNC:21219)
juvenile myoclonic epilepsy
(MONDO_0009696)
 Moderate
CILK1
(HGNC:21219)
endocrine-cerebro-osteodysplasia syndrome
(MONDO_0012980)
 Moderate
ADTRP
(HGNC:21214)
coronary artery disorder
(MONDO_0005010)
 Limited
DNPH1
(HGNC:21218)
breast cancer
(MONDO_0007254)
 Limited
RHOT2
(HGNC:21169)
Parkinson disease
(MONDO_0005180)
 Disputed
GTF2H5
(HGNC:21157)
trichothiodystrophy
(MONDO_0018053)
 Strong
ARFGEF3
(HGNC:21213)
intellectual disability
(MONDO_0001071)
 Limited
RNF125
(HGNC:21150)
Tenorio syndrome
(MONDO_0014553)
 Moderate
CEP162
(HGNC:21107)
diabetic retinopathy
(MONDO_0005266)
 Limited
FAM120B
(HGNC:21109)
type 1 diabetes mellitus
(MONDO_0005147)
 Disputed
TBC1D7
(HGNC:21066)
megalencephaly
(MONDO_0016608)
 Moderate
SFT2D1
(HGNC:21102)
exocrine pancreatic carcinoma
(MONDO_0005192)
 Limited
NCOA7
(HGNC:21081)
breast cancer
(MONDO_0007254)
 Limited
RSPH3
(HGNC:21054)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
TBC1D7
(HGNC:21066)
intellectual disability
(MONDO_0001071)
 Moderate
MOXD1
(HGNC:21063)
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
 Limited
NDUFAF4
(HGNC:21034)
Leigh syndrome
(MONDO_0009723)
 Limited
Showing 6021–6040 of 6681