DisGeNET - a database of gene-disease associations

Pathological fracture, C0016663

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:	249
Gene Symbol:	ALPL

ALPL

0.110

GeneticVariation

phenotype

LHGDN

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.

2007

Entrez Id:	249
Gene Symbol:	ALPL

ALPL

0.110

Biomarker

phenotype

HPO

Entrez Id:	6609
Gene Symbol:	SMPD1

SMPD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7305
Gene Symbol:	TYROBP

TYROBP

0.100

Biomarker

phenotype

HPO

Entrez Id:	10312
Gene Symbol:	TCIRG1

TCIRG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8985
Gene Symbol:	PLOD3

PLOD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	7390
Gene Symbol:	UROS

UROS

0.100

Biomarker

phenotype

HPO

Entrez Id:	80169
Gene Symbol:	CTC1

CTC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79158
Gene Symbol:	GNPTAB

GNPTAB

0.100

Biomarker

phenotype

HPO

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

0.100

Biomarker

phenotype

HPO

Entrez Id:	7157
Gene Symbol:	TP53

TP53

0.100

Biomarker

phenotype

HPO

Entrez Id:	950
Gene Symbol:	SCARB2

SCARB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3977
Gene Symbol:	LIFR

LIFR

0.100

Biomarker

phenotype

HPO

Entrez Id:	595
Gene Symbol:	CCND1

CCND1

0.100

Biomarker

phenotype

HPO

Entrez Id:	175
Gene Symbol:	AGA

AGA

0.100

Biomarker

phenotype

HPO

Entrez Id:	4853
Gene Symbol:	NOTCH2

NOTCH2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4507
Gene Symbol:	MTAP

MTAP

0.100

Biomarker

phenotype

HPO

Entrez Id:	3181
Gene Symbol:	HNRNPA2B1

HNRNPA2B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

0.100

Biomarker

phenotype

HPO

Entrez Id:	189
Gene Symbol:	AGXT

AGXT

0.100

Biomarker

phenotype

HPO

Entrez Id:	4952
Gene Symbol:	OCRL

OCRL

0.100

Biomarker

phenotype

HPO

Entrez Id:	9056
Gene Symbol:	SLC7A7

SLC7A7

0.100

Biomarker

phenotype

HPO

Entrez Id:	5745
Gene Symbol:	PTH1R

PTH1R

0.100

Biomarker

phenotype

HPO

Entrez Id:	387733
Gene Symbol:	IFITM5

IFITM5

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	7415
Gene Symbol:	VCP

VCP

0.100

Biomarker

phenotype

HPO