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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
STAMBP
(HGNC:16950)
microcephaly-capillary malformation syndrome
(MONDO_0013659)
 Strong
EMG1
(HGNC:16912)
Bowen-Conradi syndrome
(MONDO_0008879)
 Strong
BCKDK
(HGNC:16902)
maple syrup urine disease
(MONDO_0009563)
 Limited
SPEG
(HGNC:16901)
centronuclear myopathy
(MONDO_0018947)
 Strong
CD59
(HGNC:1689)
paroxysmal nocturnal hemoglobinuria
(MONDO_0100244)
 Disputed
CD96
(HGNC:16892)
Bohring-Opitz syndrome
(MONDO_0011510)
 Disputed
CD96
(HGNC:16892)
C syndrome
(MONDO_0008893)
 Limited
SH2D3A
(HGNC:16885)
COVID-19
(MONDO_0100096)
 Refuted
HCAR3
(HGNC:16824)
schizophrenia
(MONDO_0005090)
 Limited
CD47
(HGNC:1682)
colorectal cancer
(MONDO_0005575)
 Limited
NOP14
(HGNC:16821)
pancreatic ductal adenocarcinoma
(MONDO_0005184)
 Limited
ESS2
(HGNC:16817)
velocardiofacial syndrome
(MONDO_0008644)
 Limited
ESS2
(HGNC:16817)
DiGeorge syndrome
(MONDO_0008564)
 Limited
DACH2
(HGNC:16814)
premature menopause
(MONDO_0001119)
 Limited
PHOSPHO1
(HGNC:16815)
obesity disorder
(MONDO_0011122)
 Limited
ACTR1A
(HGNC:167)
malignant pleural mesothelioma
(MONDO_0005112)
 Limited
WWP2
(HGNC:16804)
osteoarthritis, knee
(MONDO_0005416)
 Limited
SMG7
(HGNC:16792)
prostate cancer
(MONDO_0008315)
 Limited
CD3E
(HGNC:1674)
severe combined immunodeficiency
(MONDO_0015974)
 Strong
CIZ1
(HGNC:16744)
dystonic disorder
(MONDO_0003441)
 Limited
Showing 6281–6300 of 6681