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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
PLEC
(HGNC:9069)
|
autosomal recessive limb-girdle muscular dystrophy type 2Q
(MONDO_0013390)
|
Moderate
|
|
|
PLEC
(HGNC:9069)
|
epidermolysis bullosa simplex 5B, with muscular dystrophy
(MONDO_0009181)
|
Strong
|
|
|
PLEC
(HGNC:9069)
|
aplasia cutis congenita
(MONDO_0007145)
|
Moderate
|
|
|
PLCB4
(HGNC:9059)
|
auriculocondylar syndrome
(MONDO_0000107)
|
Definitive
|
|
|
PLCB4
(HGNC:9059)
|
auriculocondylar syndrome 2
(MONDO_0013845)
|
Strong
|
|
|
AXIN2
(HGNC:904)
|
craniosynostosis
(MONDO_0015469)
|
Limited
|
|
|
AXIN2
(HGNC:904)
|
oligodontia-cancer predisposition syndrome
(MONDO_0012075)
|
Moderate
|
|
|
AXIN2
(HGNC:904)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|
|
PLA2G6
(HGNC:9039)
|
autosomal recessive Parkinson disease 14
(MONDO_0013060)
|
Strong
|
|
|
PLA2G2A
(HGNC:9031)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
PKP2
(HGNC:9024)
|
left ventricular noncompaction
(MONDO_0018901)
|
Limited
|
|
|
PKP2
(HGNC:9024)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Disputed
|
|
|
PKP2
(HGNC:9024)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
PKP2
(HGNC:9024)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Disputed
|
|
|
PKHD1
(HGNC:9016)
|
Caroli disease
(MONDO_0010913)
|
Strong
|
|
|
PKD1
(HGNC:9008)
|
Caroli disease
(MONDO_0010913)
|
Limited
|
|
|
PKHD1
(HGNC:9016)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Definitive
|
|
|
PKD1
(HGNC:9008)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Disputed
|
|
|
PKD1
(HGNC:9008)
|
polycystic kidney disease 1
(MONDO_0008263)
|
Definitive
|
|
|
PITX2
(HGNC:9005)
|
Axenfeld anomaly
(MONDO_0020368)
|
Strong
|
|