DisGeNET - a database of gene-disease associations

Lumbar hyperlordosis, C1184923

Source: ALL

Results per page

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:	4000
Gene Symbol:	LMNA

LMNA

0.100

CausalMutation

disease

CLINVAR

New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

27717888

2016

Entrez Id:	51053
Gene Symbol:	GMNN

GMNN

0.100

GeneticVariation

disease

CLINVAR

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

26637980

2015

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	5339
Gene Symbol:	PLEC

PLEC

0.100

Biomarker

disease

HPO

Entrez Id:	4148
Gene Symbol:	MATN3

MATN3

0.100

Biomarker

disease

HPO

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

0.100

Biomarker

disease

HPO

Entrez Id:	54808
Gene Symbol:	DYM

DYM

0.100

Biomarker

disease

HPO

Entrez Id:	25782
Gene Symbol:	RAB3GAP2

RAB3GAP2

0.100

Biomarker

disease

HPO

Entrez Id:	199857
Gene Symbol:	ALG14

ALG14

0.100

Biomarker

disease

HPO

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

disease

HPO

Entrez Id:	1605
Gene Symbol:	DAG1

DAG1

0.100

Biomarker

disease

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	9927
Gene Symbol:	MFN2

MFN2

0.100

Biomarker

disease

HPO

Entrez Id:	85365
Gene Symbol:	ALG2

ALG2

0.100

Biomarker

disease

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.100

Biomarker

disease

HPO

Entrez Id:	65992
Gene Symbol:	DDRGK1

DDRGK1

0.100

Biomarker

disease

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

disease

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

disease

HPO

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

0.100

Biomarker

disease

HPO

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

0.100

Biomarker

disease

HPO

Entrez Id:	50814
Gene Symbol:	NSDHL

NSDHL

0.100

Biomarker

disease

HPO

Entrez Id:	1311
Gene Symbol:	COMP

COMP

0.100

Biomarker

disease

HPO

Entrez Id:	7169
Gene Symbol:	TPM2

TPM2

0.100

Biomarker

disease

HPO

Entrez Id:	3549
Gene Symbol:	IHH

IHH

0.100

Biomarker

disease

HPO

Entrez Id:	1302
Gene Symbol:	COL11A2

COL11A2

0.100

Biomarker

disease

HPO