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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
PLEC
(HGNC:9069)
epidermolysis bullosa simplex
(MONDO_0017610)
 Definitive
PLEC
(HGNC:9069)
congenital myasthenic syndrome
(MONDO_0018940)
 Moderate
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
Showing 361–380 of 6681