DisGeNET - a database of gene-disease associations

Serum alkaline phosphatase raised, C1314665

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:	5251
Gene Symbol:	PHEX

PHEX

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	100873065
Gene Symbol:	PTCHD1-AS

PTCHD1-AS

0.100

GeneticVariation

phenotype

CLINVAR

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:	3930
Gene Symbol:	LBR

LBR

0.100

Biomarker

phenotype

HPO

Entrez Id:	5244
Gene Symbol:	ABCB4

ABCB4

0.100

Biomarker

phenotype

HPO

Entrez Id:	23387
Gene Symbol:	SIK3

SIK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	60681
Gene Symbol:	FKBP10

FKBP10

0.100

Biomarker

phenotype

HPO

Entrez Id:	147007
Gene Symbol:	TMEM199

TMEM199

0.100

Biomarker

phenotype

HPO

Entrez Id:	3592
Gene Symbol:	IL12A

IL12A

0.100

Biomarker

phenotype

HPO

Entrez Id:	284098
Gene Symbol:	PIGW

PIGW

0.100

Biomarker

phenotype

HPO

Entrez Id:	3181
Gene Symbol:	HNRNPA2B1

HNRNPA2B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8792
Gene Symbol:	TNFRSF11A

TNFRSF11A

0.100

Biomarker

phenotype

HPO

Entrez Id:	93210
Gene Symbol:	PGAP3

PGAP3

0.100

Biomarker

phenotype

HPO

Entrez Id:	84992
Gene Symbol:	PIGY

PIGY

0.100

Biomarker

phenotype

HPO

Entrez Id:	55503
Gene Symbol:	TRPV6

TRPV6

0.100

Biomarker

phenotype

HPO

Entrez Id:	27315
Gene Symbol:	PGAP2

PGAP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	142680
Gene Symbol:	SLC34A3

SLC34A3

0.100

Biomarker

phenotype

HPO

Entrez Id:	8878
Gene Symbol:	SQSTM1

SQSTM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23534
Gene Symbol:	TNPO3

TNPO3

0.100

Biomarker

phenotype

HPO

Entrez Id:	9842
Gene Symbol:	PLEKHM1

PLEKHM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	5450
Gene Symbol:	POU2AF1

POU2AF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79258
Gene Symbol:	MMEL1

MMEL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9966
Gene Symbol:	TNFSF15

TNFSF15

0.100

Biomarker

phenotype

HPO

Entrez Id:	8074
Gene Symbol:	FGF23

FGF23

0.100

Biomarker

phenotype

HPO

Entrez Id:	7157
Gene Symbol:	TP53

TP53

0.100

Biomarker

phenotype

HPO