DisGeNET - a database of gene-disease associations

Gross motor development delay, C1837658

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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:	1302
Gene Symbol:	COL11A2

COL11A2

0.100

Biomarker

disease

HPO

Entrez Id:	1305
Gene Symbol:	COL13A1

COL13A1

0.100

Biomarker

disease

HPO

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

0.100

Biomarker

disease

HPO

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

0.100

Biomarker

disease

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

disease

HPO

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	1737
Gene Symbol:	DLAT

DLAT

0.100

Biomarker

disease

HPO

Entrez Id:	131118
Gene Symbol:	DNAJC19

DNAJC19

0.100

Biomarker

disease

HPO

Entrez Id:	1785
Gene Symbol:	DNM2

DNM2

0.100

Biomarker

disease

HPO

Entrez Id:	285489
Gene Symbol:	DOK7

DOK7

0.100

Biomarker

disease

HPO

Entrez Id:	29940
Gene Symbol:	DSE

DSE

0.100

Biomarker

disease

HPO

Entrez Id:	1778
Gene Symbol:	DYNC1H1

DYNC1H1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	2033
Gene Symbol:	EP300

EP300

0.100

Biomarker

disease

HPO

Entrez Id:	11160
Gene Symbol:	ERLIN2

ERLIN2

0.100

Biomarker

disease

HPO

Entrez Id:	23474
Gene Symbol:	ETHE1

ETHE1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	2160
Gene Symbol:	F11

F11

0.010

Biomarker

disease

BEFREE

Of these factors, age-to-sit, age-to-walk, PTA, and parental concerns for gross motor developmental delay had the greatest ability to differentiate children with vestibular loss from children with normal vestibular function.

29482202

2018

Entrez Id:	2248
Gene Symbol:	FGF3

FGF3

0.100

Biomarker

disease

HPO

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

0.100

Biomarker

disease

HPO

Entrez Id:	23769
Gene Symbol:	FLRT1

FLRT1

0.100

Biomarker

disease

HPO

Entrez Id:	28982
Gene Symbol:	FLVCR1

FLVCR1

0.100

Biomarker

disease

HPO

Entrez Id:	27086
Gene Symbol:	FOXP1

FOXP1

0.100

Biomarker

disease

HPO

Entrez Id:	24140
Gene Symbol:	FTSJ1

FTSJ1

0.100

Biomarker

disease

HPO

Entrez Id:	2582
Gene Symbol:	GALE

GALE

0.100

Biomarker

disease

HPO