DisGeNET - a database of gene-disease associations

PPP1R17, protein phosphatase 1 regulatory subunit 17, 10842

N. diseases: 9; N. variants: 1

Disease: Hypercholesterolemia ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0020443
Disease:	Hypercholesterolemia

Hypercholesterolemia

0.110

GeneticVariation

disease

BEFREE

A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.

12955585

2003

CUI:	C0020443
Disease:	Hypercholesterolemia

Hypercholesterolemia

0.110

GeneticVariation

disease

LHGDN

A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.

12955585

2003

CUI:	C0020443
Disease:	Hypercholesterolemia

Hypercholesterolemia

0.110

Biomarker

disease

HPO