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
MSMO1
(HGNC:10545)
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
(MONDO_0014793)
 Moderate
SBF1
(HGNC:10542)
Charcot-Marie-Tooth disease type 4B3
(MONDO_0014117)
 Moderate
SATB1
(HGNC:10541)
developmental delay with dysmorphic facies and dental anomalies
(MONDO_0030988)
 Limited
BIN1
(HGNC:1052)
autosomal dominant centronuclear myopathy
(MONDO_0008048)
 Strong
SAG
(HGNC:10521)
retinitis pigmentosa
(MONDO_0019200)
 Disputed
SARDH
(HGNC:10536)
sarcosinemia
(MONDO_0010008)
 Limited
SAG
(HGNC:10521)
Oguchi disease
(MONDO_0019152)
 Strong
BIK
(HGNC:1051)
prostate cancer
(MONDO_0008315)
 Limited
RYR2
(HGNC:10484)
catecholaminergic polymorphic ventricular tachycardia 1
(MONDO_0011484)
 Strong
RYR3
(HGNC:10485)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Limited
RYR1
(HGNC:10483)
King-Denborough syndrome
(MONDO_0020485)
 Moderate
RYR2
(HGNC:10484)
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
 Definitive
RYR2
(HGNC:10484)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Disputed
RYR2
(HGNC:10484)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Limited
RPS26
(HGNC:10414)
Diamond-Blackfan anemia 10
(MONDO_0013217)
 Moderate
RYR1
(HGNC:10483)
congenital multicore myopathy with external ophthalmoplegia
(MONDO_0009712)
 Moderate
RYR1
(HGNC:10483)
malignant hyperthermia of anesthesia
(MONDO_0018493)
 Definitive
RYR1
(HGNC:10483)
malignant hyperthermia, susceptibility to, 1
(MONDO_0007783)
 Strong
RUNX1
(HGNC:10471)
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
(MONDO_0100083)
 Definitive
RYR1
(HGNC:10483)
lethal multiple pterygium syndrome
(MONDO_0009668)
 Moderate
Showing 4301–4320 of 6699