DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs397514698 ×

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:

rs397514698

rs397514698

GNAQ

CUI:	C0038505
Disease:	Sturge-Weber Syndrome

Sturge-Weber Syndrome

T

0.880

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0340803
Disease:	Capillary malformation (disorder)

Capillary malformation (disorder)

T

0.730

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0235752
Disease:	Port-Wine Stain

Port-Wine Stain

T

0.720

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0007933
Disease:	Meibomian Cyst

Meibomian Cyst

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C4476886
Disease:	Abnormal vena cava morphology

Abnormal vena cava morphology

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0241665
Disease:	Abnormal venous morphology

Abnormal venous morphology

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1837785
Disease:	Prominent superficial veins

Prominent superficial veins

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0005741
Disease:	Blepharitis

Blepharitis

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1860236
Disease:	Irregular hyperpigmentation

Irregular hyperpigmentation

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1859882
Disease:	Pigmentation of the sclera

Pigmentation of the sclera

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0234629
Disease:	Abnormal color vision

Abnormal color vision

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0003081
Disease:	Anisometropia

Anisometropia

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0013595
Disease:	Eczema

Eczema

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1837098
Disease:	Easy fatigability

Easy fatigability

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0241657
Disease:	Abnormality of the vasculature

Abnormality of the vasculature

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0030193
Disease:	Pain

Pain

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1849265
Disease:	Overgrowth

Overgrowth

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0162834
Disease:	Hyperpigmentation

Hyperpigmentation

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0018916
Disease:	Hemangioma

Hemangioma

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0037299
Disease:	Skin Ulcer

Skin Ulcer

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1851789
Disease:	Poor wound healing

Poor wound healing

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C1850049
Disease:	Clinodactyly of the 5th finger

Clinodactyly of the 5th finger

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C4073245
Disease:	Abnormality of neck blood vessel

Abnormality of neck blood vessel

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514698

rs397514698

GNAQ

CUI:	C0040822
Disease:	Tremor

Tremor

T

0.700

CausalMutation

CLINVAR