DisGeNET - a database of gene-disease associations

Gross motor development delay, C1837658

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Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	11152
Gene Symbol:	WDR45

WDR45

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	7874
Gene Symbol:	USP7

USP7

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	7319
Gene Symbol:	UBE2A

UBE2A

0.100

Biomarker

disease

HPO

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

0.100

Biomarker

disease

HPO

Entrez Id:	7273
Gene Symbol:	TTN

TTN

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	4556
Gene Symbol:	TRNE

TRNE

0.100

Biomarker

disease

HPO

Entrez Id:	55687
Gene Symbol:	TRMU

TRMU

0.100

Biomarker

disease

HPO

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	7173
Gene Symbol:	TPO

TPO

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	7138
Gene Symbol:	TNNT1

TNNT1

0.100

Biomarker

disease

HPO

Entrez Id:	7084
Gene Symbol:	TK2

TK2

0.100

Biomarker

disease

HPO

Entrez Id:	57215
Gene Symbol:	THAP11

THAP11

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

0.100

Biomarker

disease

HPO

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

0.100

Biomarker

disease

HPO

Entrez Id:	8803
Gene Symbol:	SUCLA2

SUCLA2

0.100

Biomarker

disease

HPO

Entrez Id:	6786
Gene Symbol:	STIM1

STIM1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	80208
Gene Symbol:	SPG11

SPG11

0.100

CausalMutation

disease

CLINVAR

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

2009

Entrez Id:	6609
Gene Symbol:	SMPD1

SMPD1

0.100

Biomarker

disease

HPO

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

Biomarker

disease

HPO

Entrez Id:	6531
Gene Symbol:	SLC6A3

SLC6A3

0.100

Biomarker

disease

HPO

Entrez Id:	55209
Gene Symbol:	SETD5

SETD5

0.100

Biomarker

disease

HPO

Entrez Id:	57190
Gene Symbol:	SELENON

SELENON

0.100

Biomarker

disease

HPO