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Gene–disease association summaries
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
|
|