DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Motor delay ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2548
Gene Symbol:	GAA

GAA

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

2015

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	254359
Gene Symbol:	ZDHHC24

ZDHHC24

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	57479
Gene Symbol:	PRR12

PRR12

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	1674
Gene Symbol:	DES

DES

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	124454
Gene Symbol:	EARS2

EARS2

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

GeneticVariation

CLINVAR

Entrez Id:	2629
Gene Symbol:	GBA

GBA

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

GeneticVariation

CLINVAR

Entrez Id:	8924
Gene Symbol:	HERC2

HERC2

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	79152
Gene Symbol:	FA2H

FA2H

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

GeneticVariation

CLINVAR

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

GeneticVariation

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	1756
Gene Symbol:	DMD

DMD

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	27315
Gene Symbol:	PGAP2

PGAP2

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	1476
Gene Symbol:	CSTB

CSTB

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	582
Gene Symbol:	BBS1

BBS1

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR

Entrez Id:	54870
Gene Symbol:	QRICH1

QRICH1

CUI:	C1854301
Disease:	Motor delay

Motor delay

0.100

CausalMutation

CLINVAR