Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
TYMP
(HGNC:3148)
mitochondrial disease
(MONDO_0044970)
 Moderate
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)
 Limited
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)
 Moderate
SLC6A20
(HGNC:30927)
hyperglycinuria
(MONDO_0007677)
 Limited
ATP5MK
(HGNC:30889)
Leigh syndrome
(MONDO_0009723)
 Moderate
TMEM126B
(HGNC:30883)
mitochondrial complex I deficiency
(MONDO_0100133)
 Strong
TMEM126B
(HGNC:30883)
mitochondrial disease
(MONDO_0044970)
 Strong
Showing 1881–1900 of 6699