Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

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

Gene–Disease Browser

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Gene Disease Score Actions
PQBP1
(HGNC:9330)
Renpenning syndrome
(MONDO_0010653)
Definitive
PRKAB2
(HGNC:9379)
type 2 diabetes mellitus
(MONDO_0005148)
Disputed
PKN2
(HGNC:9406)
type 2 diabetes mellitus
(MONDO_0005148)
Disputed
BAAT
(HGNC:932)
intrahepatic cholestasis
(MONDO_0019072)
Limited
PPT2
(HGNC:9326)
chronic obstructive pulmonary disease
(MONDO_0005002)
Limited
PPY
(HGNC:9327)
morbid obesity
(MONDO_0005139)
Disputed
PPP2R5B
(HGNC:9310)
multiple endocrine neoplasia type 1
(MONDO_0007540)
Refuted
PPP1R3C
(HGNC:9293)
Lafora disease
(MONDO_0009697)
Limited
PTPA
(HGNC:9308)
Parkinson disease
(MONDO_0005180)
Limited
PPOX
(HGNC:9280)
variegate porphyria
(MONDO_0008297)
Strong
PPIL1
(HGNC:9260)
pontocerebellar hypoplasia
(MONDO_0020135)
Strong
POLR2C
(HGNC:9189)
premature menopause
(MONDO_0001119)
Limited
EXOSC9
(HGNC:9137)
pontocerebellar hypoplasia
(MONDO_0020135)
Moderate
PLCD3
(HGNC:9061)
cardiovascular disorder
(MONDO_0004995)
Limited
PNKD
(HGNC:9153)
paroxysmal nonkinesigenic dyskinesia
(MONDO_0700088)
Definitive
PLXNB2
(HGNC:9104)
Phelan-McDermid syndrome
(MONDO_0011652)
Disputed
PLA2G5
(HGNC:9038)
Stargardt disease
(MONDO_0019353)
Disputed
PLCD3
(HGNC:9061)
hypertensive disorder
(MONDO_0005044)
Limited
PLA2G10
(HGNC:9029)
schizophrenia
(MONDO_0005090)
Limited
PIGC
(HGNC:8960)
intellectual disability
(MONDO_0001071)
Moderate
Showing 5201–5220 of 6681