DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE ×

Variant: rs397515453 ×

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:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

28632845

2017

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

26974159

2016

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

27766312

2016

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

PIK3R1 mutations in SHORT syndrome.

23980586

2014

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

25326637

2014

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

24886349

2014

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

23810378

2013

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Mutations in PIK3R1 cause SHORT syndrome.

23810382

2013

dbSNP:

rs397515453

PIK3R1

CUI:	C3554689
Disease:	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

23810379

2013