DisGeNET - a database of gene-disease associations

CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO, C3809819

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:

rs281865153

rs281865153

ALX4

1

1.000

11

44310044

missense variant

C/A;G;T

snv

1.4E-05; 4.6E-06; 4.6E-06

0.800

dbSNP:

rs281865154

rs281865154

ALX4

1

1.000

11

44275494

missense variant

T/C

snv

0.800