DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hypophosphatemic Rickets, X-Linked Dominant ×

Gene: PHEX ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

11004247

2000

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

10737991

2000

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

10439971

1999

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

9768646

1998

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

9768674

1998

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

9097956

1997

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

9199930

1997

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

9106524

1997

dbSNP:

rs137853269

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

11004247

2000

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

10737991

2000

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

10439971

1999

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

9768674

1998

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

9768646

1998

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

9106524

1997

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

9199930

1997

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

9097956

1997

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

CausalMutation

CLINVAR

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

11004247

2000

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

10737991

2000

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

10439971

1999

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

9768646

1998

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

9768674

1998

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

9106524

1997

dbSNP:

rs1556014287

PHEX

CUI:	C0733682
Disease:	Hypophosphatemic Rickets, X-Linked Dominant

Hypophosphatemic Rickets, X-Linked Dominant

0.800

GeneticVariation

UNIPROT

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

9097956

1997