DisGeNET - a database of gene-disease associations

Alkaline phosphatase raised, C0151849

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:	9488
Gene Symbol:	PIGB

PIGB

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

2019

Entrez Id:	5251
Gene Symbol:	PHEX

PHEX

0.100

Biomarker

phenotype

HPO

Entrez Id:	8074
Gene Symbol:	FGF23

FGF23

0.100

Biomarker

phenotype

HPO

Entrez Id:	9487
Gene Symbol:	PIGL

PIGL

0.100

Biomarker

phenotype

HPO

Entrez Id:	1186
Gene Symbol:	CLCN7

CLCN7

0.100

Biomarker

phenotype

HPO

Entrez Id:	6514
Gene Symbol:	SLC2A2

SLC2A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1594
Gene Symbol:	CYP27B1

CYP27B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	63916
Gene Symbol:	ELMO2

ELMO2

0.100

Biomarker

phenotype

HPO

Entrez Id:	55650
Gene Symbol:	PIGV

PIGV

0.100

Biomarker

phenotype

HPO

Entrez Id:	9966
Gene Symbol:	TNFSF15

TNFSF15

0.100

Biomarker

phenotype

HPO

Entrez Id:	147007
Gene Symbol:	TMEM199

TMEM199

0.100

Biomarker

phenotype

HPO

Entrez Id:	11200
Gene Symbol:	CHEK2

CHEK2

0.100

Biomarker

phenotype

HPO

Entrez Id:	23534
Gene Symbol:	TNPO3

TNPO3

0.100

Biomarker

phenotype

HPO

Entrez Id:	23387
Gene Symbol:	SIK3

SIK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	5244
Gene Symbol:	ABCB4

ABCB4

0.100

Biomarker

phenotype

HPO

Entrez Id:	7157
Gene Symbol:	TP53

TP53

0.100

Biomarker

phenotype

HPO

Entrez Id:	3930
Gene Symbol:	LBR

LBR

0.100

Biomarker

phenotype

HPO

Entrez Id:	10312
Gene Symbol:	TCIRG1

TCIRG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8878
Gene Symbol:	SQSTM1

SQSTM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

0.100

Biomarker

phenotype

HPO

Entrez Id:	142680
Gene Symbol:	SLC34A3

SLC34A3

0.100

Biomarker

phenotype

HPO

Entrez Id:	3663
Gene Symbol:	IRF5

IRF5

0.100

Biomarker

phenotype

HPO

Entrez Id:	166929
Gene Symbol:	SGMS2

SGMS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3592
Gene Symbol:	IL12A

IL12A

0.100

Biomarker

phenotype

HPO

Entrez Id:	4982
Gene Symbol:	TNFRSF11B

TNFRSF11B

0.100

Biomarker

phenotype

HPO