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

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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
CAVIN1
(HGNC:9688)
congenital generalized lipodystrophy
(MONDO_0006536)
 Strong
PTPRK
(HGNC:9674)
neurofibromatosis type 1
(MONDO_0018975)
 Disputed
PTPRA
(HGNC:9664)
schizophrenia
(MONDO_0005090)
 Limited
PTPN4
(HGNC:9656)
Rett syndrome
(MONDO_0010726)
 Limited
PTPN3
(HGNC:9655)
rheumatoid arthritis
(MONDO_0008383)
 Limited
PTPN3
(HGNC:9655)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
PTGIR
(HGNC:9602)
migraine disorder
(MONDO_0005277)
 Limited
PSMB7
(HGNC:9544)
alpha 1-antitrypsin deficiency
(MONDO_0013282)
 Refuted
PSMB1
(HGNC:9537)
type 1 diabetes mellitus
(MONDO_0005147)
 Refuted
CYTH3
(HGNC:9504)
autism
(MONDO_0005260)
 Disputed
ACAT2
(HGNC:94)
beta-ketothiolase deficiency
(MONDO_0008760)
 Moderate
PSAP
(HGNC:9498)
metachromatic leukodystrophy
(MONDO_0018868)
 Strong
PROCR
(HGNC:9452)
hereditary thrombophilia due to congenital protein C deficiency
(MONDO_0019145)
 Limited
PPP2R5B
(HGNC:9310)
Cornelia de Lange syndrome
(MONDO_0016033)
 Limited
PPP2CA
(HGNC:9299)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
PNLIPRP1
(HGNC:9156)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
PLXNB3
(HGNC:9105)
congenital heart disease
(MONDO_0005453)
 Limited
ACADS
(HGNC:90)
very long chain acyl-CoA dehydrogenase deficiency
(MONDO_0008723)
 Refuted
PHF3
(HGNC:8921)
autism spectrum disorder
(MONDO_0005258)
 Limited
PHEX
(HGNC:8918)
vitamin D-dependent rickets, type 2
(MONDO_0019642)
 Definitive
Showing 21–40 of 6681