DisGeNET - a database of gene-disease associations

RALGAPB, Ral GTPase activating protein non-catalytic subunit beta, 57148

N. diseases: 43; N. variants: 1

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:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0234632
Disease:

Reduced visual acuity

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0431371
Disease:

Absence of septum pellucidum

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0684276
Disease:

Hypsarrhythmia

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C3279675
Disease:

Perisylvian polymicrogyria

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C1837397
Disease:

Severe global developmental delay

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0271801
Disease:

Central hypothyroidism

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0338503
Disease:

Septo-Optic Dysplasia

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0036572
Disease:

Seizures

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C3279571
Disease:

Ectopic posterior pituitary

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0011848
Disease:

Diabetes Insipidus

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0338502
Disease:

Hypoplasia of the optic nerve

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C3887898
Disease:

Infantile Spasm

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs758022116

rs758022116

Entrez Id:	57148
Gene Symbol:	RALGAPB

RALGAPB

CUI:	C0948387
Disease:

Secondary Adrenal Insufficiency

T

0.700

GeneticVariation

CLINVAR