DisGeNET - a database of gene-disease associations

Hemangioma, Cavernous, C0018920

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1553759139

rs1553759139

PDCD10

5

0.925

0.400

3

167687610

splice region variant

C/T

snv

0.700

dbSNP:

rs1554518790

rs1554518790

KRIT1

1

1.000

0.120

7

92226683

splice acceptor variant

C/T

snv

0.700

dbSNP:

rs1554527169

rs1554527169

KRIT1

1

1.000

0.120

7

92234536

stop gained

G/C

snv

0.700

dbSNP:

rs765548101

rs765548101

CCM2

1

1.000

0.120

7

45064528

stop gained

C/G;T

snv

1.2E-05

0.700