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
SHOC2
(HGNC:15454)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Limited
PRPF31
(HGNC:15446)
retinitis pigmentosa 11
(MONDO_0010828)
 Definitive
SHOC2
(HGNC:15454)
Costello syndrome
(MONDO_0009026)
 Refuted
CBL
(HGNC:1541)
Noonan syndrome
(MONDO_0018997)
 Strong
CBL
(HGNC:1541)
juvenile myelomonocytic leukemia
(MONDO_0011908)
 Strong
CBL
(HGNC:1541)
CBL-related disorder
(MONDO_0013308)
 Strong
CAV3
(HGNC:1529)
rippling muscle disease 2
(MONDO_0019947)
 Moderate
SERPINA6
(HGNC:1540)
corticosteroid-binding globulin deficiency
(MONDO_0012675)
 Moderate
MICU1
(HGNC:1530)
proximal myopathy with extrapyramidal signs
(MONDO_0014300)
 Strong
CAV1
(HGNC:1527)
heritable pulmonary arterial hypertension
(MONDO_0017148)
 Moderate
CAV3
(HGNC:1529)
Brugada syndrome
(MONDO_0015263)
 Limited
CAV3
(HGNC:1529)
long QT syndrome
(MONDO_0002442)
 Limited
CAV1
(HGNC:1527)
pulmonary arterial hypertension
(MONDO_0015924)
 Strong
CASR
(HGNC:1514)
autosomal dominant hypocalcemia 1
(MONDO_0011013)
 Definitive
CAT
(HGNC:1516)
acatalasia
(MONDO_0013571)
 Moderate
CASR
(HGNC:1514)
neonatal severe primary hyperparathyroidism
(MONDO_0009397)
 Definitive
CASR
(HGNC:1514)
autosomal dominant hypocalcemia
(MONDO_0018543)
 Definitive
CASR
(HGNC:1514)
familial hypocalciuric hypercalcemia 1
(MONDO_0007791)
 Definitive
CASQ2
(HGNC:1513)
catecholaminergic polymorphic ventricular tachycardia 2
(MONDO_0012762)
 Strong
CASQ1
(HGNC:1512)
tubular aggregate myopathy
(MONDO_0008051)
 Moderate
Showing 3381–3400 of 6699