DisGeNET - a database of gene-disease associations

Fragile nails, C1856963

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:	833
Gene Symbol:	CARS1

CARS1

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

2019

Entrez Id:	2961
Gene Symbol:	GTF2E2

GTF2E2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4487
Gene Symbol:	MSX1

MSX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3914
Gene Symbol:	LAMB3

LAMB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	23545
Gene Symbol:	ATP6V0A2

ATP6V0A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	136647
Gene Symbol:	MPLKIP

MPLKIP

0.100

Biomarker

phenotype

HPO

Entrez Id:	10804
Gene Symbol:	GJB6

GJB6

0.100

Biomarker

phenotype

HPO

Entrez Id:	3918
Gene Symbol:	LAMC2

LAMC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2512
Gene Symbol:	FTL

FTL

0.100

Biomarker

phenotype

HPO

Entrez Id:	2697
Gene Symbol:	GJA1

GJA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	3909
Gene Symbol:	LAMA3

LAMA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	404672
Gene Symbol:	GTF2H5

GTF2H5

0.100

Biomarker

phenotype

HPO

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

0.100

Biomarker

phenotype

HPO

Entrez Id:	341208
Gene Symbol:	HEPHL1

HEPHL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1747
Gene Symbol:	DLX3

DLX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	1947
Gene Symbol:	EFNB1

EFNB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3861
Gene Symbol:	KRT14

KRT14

0.100

Biomarker

phenotype

HPO

Entrez Id:	5587
Gene Symbol:	PRKD1

PRKD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7737
Gene Symbol:	RNF113A

RNF113A

0.100

Biomarker

phenotype

HPO

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

0.100

Biomarker

phenotype

HPO