Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SLC25A38
(HGNC:26054)
autosomal recessive sideroblastic anemia
(MONDO_0016828)
 Strong
TMEM70
(HGNC:26050)
mitochondrial disease
(MONDO_0044970)
 Strong
PIGV
(HGNC:26031)
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
 Strong
TMEM127
(HGNC:26038)
renal cell carcinoma
(MONDO_0005086)
 Limited
PIGV
(HGNC:26031)
hyperphosphatasia with intellectual disability syndrome 1
(MONDO_0009398)
 Strong
CYP24A1
(HGNC:2602)
hypercalcemia, infantile, 1
(MONDO_0020739)
 Strong
TRMT10C
(HGNC:26022)
mitochondrial disease
(MONDO_0044970)
 Moderate
CYP21A2
(HGNC:2600)
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
(MONDO_0008728)
 Definitive
TTC19
(HGNC:26006)
mitochondrial complex III deficiency
(MONDO_0015448)
 Strong
TTC19
(HGNC:26006)
mitochondrial complex III deficiency nuclear type 2
(MONDO_0014063)
 Strong
TTC19
(HGNC:26006)
Leigh syndrome
(MONDO_0009723)
 Moderate
NSUN2
(HGNC:25994)
Dubowitz syndrome
(MONDO_0009124)
 Limited
CYP1B1
(HGNC:2597)
congenital glaucoma
(MONDO_0020366)
 Definitive
CYP1B1
(HGNC:2597)
Peters anomaly
(MONDO_0011414)
 Moderate
CYP19A1
(HGNC:2594)
aromatase excess syndrome
(MONDO_0007690)
 Strong
CYP19A1
(HGNC:2594)
aromatase deficiency
(MONDO_0013301)
 Definitive
CYP11B2
(HGNC:2592)
corticosterone methyloxidase type 1 deficiency
(MONDO_0008751)
 Strong
KLHL24
(HGNC:25947)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Moderate
TET2
(HGNC:25941)
pulmonary arterial hypertension
(MONDO_0015924)
 Moderate
CYP17A1
(HGNC:2593)
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
(MONDO_0008730)
 Definitive
Showing 2281–2300 of 6699