DisGeNET - a database of gene-disease associations

Gross motor development delay, C1837658

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:

rs61752992

rs61752992

MECP2

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs751889864

rs751889864

MUSK ; LOC107987115

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs756421370

rs756421370

MECR

TA

0.700

CausalMutation

CLINVAR

dbSNP:

rs763944786

rs763944786

RYR1

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs80358263

rs80358263

NPC2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs878854378

rs878854378

TTN ; TTN-AS1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs886041287

rs886041287

TTN ; TTN-AS1

CTG

0.700

GeneticVariation

CLINVAR

dbSNP:

rs912001256

rs912001256

SCN4A

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs926027867

rs926027867

CAMK2A

A

0.700

CausalMutation

CLINVAR

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

2017

dbSNP:

rs935855792

rs935855792

ETHE1

G

0.700

CausalMutation

CLINVAR