DisGeNET - a database of gene-disease associations

PGAP1, post-GPI attachment to proteins inositol deacylase 1, 80055

N. diseases: 75; N. variants: 13

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1559328283

rs1559328283

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

G

0.700

GeneticVariation

CLINVAR

PGAP1 knock-out mice show otocephaly and male infertility.

2007

dbSNP:

rs1361547443

rs1361547443

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1410587479

rs1410587479

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs143038880

rs143038880

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777202

rs587777202

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777378

rs587777378

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs750079325

rs750079325

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs767774867

rs767774867

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

TTA

0.700

CausalMutation

CLINVAR

dbSNP:

rs781325598

rs781325598

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025578

rs869025578

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025579

rs869025579

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025580

rs869025580

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025581

rs869025581

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

CUI:	C4014343
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42

C

0.700

CausalMutation

CLINVAR