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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
AARS2
(HGNC:21022)
mitochondrial disease
(MONDO_0044970)
 Strong
AARS2
(HGNC:21022)
combined oxidative phosphorylation defect type 8
(MONDO_0013570)
 Strong
ANTXR1
(HGNC:21014)
GAPO syndrome
(MONDO_0009263)
 Strong
ALPK1
(HGNC:20917)
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
(MONDO_0013999)
 Definitive
PHACTR1
(HGNC:20990)
developmental and epileptic encephalopathy, 70
(MONDO_0032663)
 Moderate
PHACTR1
(HGNC:20990)
West syndrome
(MONDO_0018097)
 Moderate
SMYD1
(HGNC:20986)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
POLD3
(HGNC:20932)
hearing loss disorder
(MONDO_0005365)
 Moderate
BCOR
(HGNC:20893)
microphthalmia, syndromic 2
(MONDO_0010261)
 Definitive
GTDC1
(HGNC:20887)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
BMP10
(HGNC:20869)
pulmonary arterial hypertension
(MONDO_0015924)
 Limited
PLEKHG1
(HGNC:20884)
periventricular leukomalacia
(MONDO_0015742)
 Limited
SLC39A8
(HGNC:20862)
SLC39A8-CDG
(MONDO_0014746)
 Strong
THAP1
(HGNC:20856)
torsion dystonia 6
(MONDO_0011264)
 Strong
SLC39A14
(HGNC:20858)
hypermanganesemia with dystonia 2
(MONDO_0014864)
 Moderate
CLPP
(HGNC:2084)
Perrault syndrome 3
(MONDO_0013588)
 Strong
TPCN2
(HGNC:20820)
albinism
(MONDO_0043209)
 Limited
SLC35D1
(HGNC:20800)
schneckenbecken dysplasia
(MONDO_0010013)
 Strong
CLN8
(HGNC:2079)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
CLN8
(HGNC:2079)
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
(MONDO_0012391)
 Strong
Showing 2701–2720 of 6681