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
PMS2
(HGNC:9122)
Muir-Torre syndrome
(MONDO_0008018)
 Moderate
PMS2
(HGNC:9122)
breast cancer
(MONDO_0007254)
 Moderate
PMS2
(HGNC:9122)
Lynch syndrome
(MONDO_0005835)
 Definitive
PMS1
(HGNC:9121)
Lynch syndrome
(MONDO_0005835)
 Limited
PMP22
(HGNC:9118)
hereditary neuropathy with liability to pressure palsies
(MONDO_0008087)
 Definitive
PMP22
(HGNC:9118)
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
 Definitive
PMP22
(HGNC:9118)
Charcot-Marie-Tooth disease type 1E
(MONDO_0007311)
 Strong
PMP22
(HGNC:9118)
Charcot-Marie-Tooth disease type 1A
(MONDO_0007309)
 Definitive
PMP2
(HGNC:9117)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Moderate
PLXND1
(HGNC:9107)
persistent truncus arteriosus
(MONDO_0018072)
 Limited
PLP1
(HGNC:9086)
Pelizaeus-Merzbacher disease, classic form
(MONDO_0017222)
 Definitive
PLXND1
(HGNC:9107)
Mobius syndrome
(MONDO_0008006)
 Limited
PLOD3
(HGNC:9083)
bone fragility with contractures, arterial rupture, and deafness
(MONDO_0012892)
 Strong
PLOD2
(HGNC:9082)
Bruck syndrome
(MONDO_0017195)
 Definitive
PLN
(HGNC:9080)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Moderate
PLOD2
(HGNC:9082)
Bruck syndrome 2
(MONDO_0012217)
 Strong
SERPINF2
(HGNC:9075)
alpha-2-plasmin inhibitor deficiency
(MONDO_0009883)
 Limited
PLG
(HGNC:9071)
hypoplasminogenemia
(MONDO_0009009)
 Moderate
PLEC
(HGNC:9069)
epidermolysis bullosa simplex
(MONDO_0017610)
 Definitive
PLEC
(HGNC:9069)
congenital myasthenic syndrome
(MONDO_0018940)
 Moderate
Showing 361–380 of 6699