DisGeNET - a database of gene-disease associations

PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, C3807567

Gene: CAV1 ×

Source: CURATED ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs797044871

rs797044871

CAV1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045176

rs797045176

CAV1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255578

rs879255578

CAV1

C

0.700

CausalMutation

CLINVAR