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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
MT-ATP8
(HGNC:7415)
|
MELAS syndrome
(MONDO_0010789)
|
Limited
|
|
|
MARCKSL1
(HGNC:7142)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
MARCKSL1
(HGNC:7142)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
MAPRE2
(HGNC:6891)
|
retinitis pigmentosa
(MONDO_0019200)
|
Refuted
|
|
|
HCRT
(HGNC:4847)
|
variegate porphyria
(MONDO_0008297)
|
Definitive
|
|
|
GUCY2C
(HGNC:4688)
|
congenital adrenal hyperplasia
(MONDO_0018479)
|
Refuted
|
|
|
GUCY2C
(HGNC:4688)
|
congenital lipoid adrenal hyperplasia due to STAR deficency
(MONDO_0008725)
|
Refuted
|
|
|
PM20D1
(HGNC:26518)
|
carbamoyl phosphate synthetase I deficiency disease
(MONDO_0009376)
|
Refuted
|
|
|
ANKRD44
(HGNC:25259)
|
mucopolysaccharidosis type 6
(MONDO_0009661)
|
Refuted
|
|
|
KCTD11
(HGNC:21302)
|
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
(MONDO_0008264)
|
Moderate
|
|
|
HHAT
(HGNC:18270)
|
Shprintzen-Goldberg syndrome
(MONDO_0008426)
|
Refuted
|
|
|
SH2D3C
(HGNC:16884)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Limited
|
|
|
PRDX6
(HGNC:16753)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Refuted
|
|
|
CAPG
(HGNC:1474)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Refuted
|
|
|
CAPG
(HGNC:1474)
|
hemolytic-uremic syndrome
(MONDO_0001549)
|
Refuted
|
|
|
CMYA5
(HGNC:14305)
|
schizophrenia
(MONDO_0005090)
|
Disputed
|
|
|
ZNF711
(HGNC:13128)
|
X-linked intellectual disability
(MONDO_0100284)
|
Moderate
|
|
|
ZNF160
(HGNC:12948)
|
factor XI deficiency
(MONDO_0020587)
|
Refuted
|
|
|
RFC4
(HGNC:9972)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
REPS2
(HGNC:9963)
|
Nance-Horan syndrome
(MONDO_0010545)
|
Disputed
|
|