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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
ECHS1
(HGNC:3151)
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
(MONDO_0014563)
 Definitive
EDA
(HGNC:3157)
tooth agenesis
(MONDO_0005486)
 Definitive
TYMP
(HGNC:3148)
mitochondrial disease
(MONDO_0044970)
 Strong
WDR37
(HGNC:31406)
neurooculocardiogenitourinary syndrome
(MONDO_0032850)
 Strong
GPR179
(HGNC:31371)
congenital stationary night blindness
(MONDO_0016293)
 Strong
LEFTY2
(HGNC:3122)
visceral heterotaxy
(MONDO_0018677)
 Limited
LEFTY2
(HGNC:3122)
congenital heart disease
(MONDO_0005453)
 Limited
GREB1L
(HGNC:31042)
hearing loss, autosomal dominant 80
(MONDO_0030998)
 Moderate
GREB1L
(HGNC:31042)
renal hypodysplasia/aplasia 3
(MONDO_0024520)
 Moderate
GREB1L
(HGNC:31042)
renal agenesis, unilateral
(MONDO_0019636)
 Moderate
GREB1L
(HGNC:31042)
bilateral renal agenesis
(MONDO_0015986)
 Moderate
TOR1A
(HGNC:3098)
early-onset generalized limb-onset dystonia
(MONDO_0007492)
 Definitive
DYSF
(HGNC:3097)
qualitative or quantitative defects of dysferlin
(MONDO_0016145)
 Definitive
DYSF
(HGNC:3097)
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
 Definitive
DYSF
(HGNC:3097)
Miyoshi myopathy
(MONDO_0009685)
 Definitive
DYSF
(HGNC:3097)
distal myopathy with anterior tibial onset
(MONDO_0011721)
 Strong
DYSF
(HGNC:3097)
autosomal recessive limb-girdle muscular dystrophy type 2B
(MONDO_0009676)
 Definitive
DYRK1B
(HGNC:3092)
abdominal obesity-metabolic syndrome 3
(MONDO_0014352)
 Strong
SLC6A20
(HGNC:30927)
hyperglycinuria
(MONDO_0007677)
 Limited
ATP5MK
(HGNC:30889)
Leigh syndrome
(MONDO_0009723)
 Moderate
Showing 1861–1880 of 6681