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Gene–disease association summaries
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
|
|