DisGeNET - a database of gene-disease associations

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES, C3553831

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs318240757

rs318240757

RTTN

0.700

GeneticVariation

UNIPROT

RTTN mutations link primary cilia function to organization of the human cerebral cortex.

2012

dbSNP:

rs1256028809

rs1256028809

RTTN

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs201884120

rs201884120

RTTN ; LOC105372180

0.700

GeneticVariation

UNIPROT

dbSNP:

rs775277800

rs775277800

RTTN

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs780270096

rs780270096

RTTN

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs864321620

rs864321620

RTTN

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs864321621

rs864321621

RTTN

G

0.700

CausalMutation

CLINVAR