DisGeNET - a database of gene-disease associations

Abnormality of the ribs, C1842083

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:	118429
Gene Symbol:	ANTXR2

ANTXR2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	324
Gene Symbol:	APC

APC

0.100

Biomarker

disease

HPO

Entrez Id:	8815
Gene Symbol:	BANF1

BANF1

0.100

Biomarker

disease

HPO

Entrez Id:	8318
Gene Symbol:	CDC45

CDC45

0.100

Biomarker

disease

HPO

Entrez Id:	990
Gene Symbol:	CDC6

CDC6

0.100

Biomarker

disease

HPO

Entrez Id:	81620
Gene Symbol:	CDT1

CDT1

0.100

Biomarker

disease

HPO

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

0.100

Biomarker

disease

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

Biomarker

disease

HPO

Entrez Id:	1131
Gene Symbol:	CHRM3

CHRM3

0.100

Biomarker

disease

HPO

Entrez Id:	1186
Gene Symbol:	CLCN7

CLCN7

0.100

Biomarker

disease

HPO

Entrez Id:	9382
Gene Symbol:	COG1

COG1

0.100

Biomarker

disease

HPO

Entrez Id:	51339
Gene Symbol:	DACT1

DACT1

0.100

Biomarker

disease

HPO

Entrez Id:	65992
Gene Symbol:	DDRGK1

DDRGK1

0.100

Biomarker

disease

HPO

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

0.100

Biomarker

disease

HPO

Entrez Id:	10655
Gene Symbol:	DMRT2

DMRT2

0.010

GeneticVariation

disease

BEFREE

Therefore, it seems plausible that mutations in DMRT2 are associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies.

29681102

2018

Entrez Id:	29980
Gene Symbol:	DONSON

DONSON

0.100

Biomarker

disease

HPO

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

0.100

Biomarker

disease

HPO

Entrez Id:	51626
Gene Symbol:	DYNC2LI1

DYNC2LI1

0.100

Biomarker

disease

HPO

Entrez Id:	55612
Gene Symbol:	FERMT1

FERMT1

0.100

Biomarker

disease

HPO

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

0.100

Biomarker

disease

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

disease

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

disease

HPO

Entrez Id:	2317
Gene Symbol:	FLNB

FLNB

0.010

GeneticVariation

disease

BEFREE

This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies.

28145000

2017

Entrez Id:	9573
Gene Symbol:	GDF3

GDF3

0.100

Biomarker

disease

HPO

Entrez Id:	392255
Gene Symbol:	GDF6

GDF6

0.100

Biomarker

disease

HPO