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Gene–disease association summaries
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
|
|