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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs875989883

PHEX ; PTCHD1-AS

0.851

0.280

22219070

missense variant

G/A;C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2015

dbSNP:

rs137853269

PHEX

1.000

0.200

22047116

missense variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs137853270

PHEX ; PTCHD1-AS

1.000

0.200

22212922

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs1556014287

PHEX

1.000

0.200

22047115

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs1556091855

PHEX

1.000

0.200

22190447

missense variant

G/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs1556135308

PHEX ; PTCHD1-AS

1.000

0.200

22219053

missense variant

C/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs1556200989

PHEX ; PTCHD1-AS

1.000

0.200

22245340

missense variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs1556206403

PHEX ; PTCHD1-AS

1.000

0.200

22247948

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.800

1.000

1997

2000

dbSNP:

rs1057517980

PHEX ; PTCHD1-AS

1.000

0.200

22219071

missense variant

G/A;T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

1.000

1997

2000

dbSNP:

rs1556151526

PHEX ; PTCHD1-AS

1.000

0.200

22227581

missense variant

C/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

1.000

1997

2000

dbSNP:

rs267606945

PHEX

1.000

0.200

22094005

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

1.000

1997

2000

dbSNP:

rs267606946

PHEX

1.000

0.200

22094009

missense variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

1.000

1997

2000

dbSNP:

rs1569442206

PHEX ; PTCHD1-AS

1.000

0.200

22245402

stop gained

C/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

1.000

2009

dbSNP:

rs1057517981

PHEX ; PTCHD1-AS

1.000

0.200

22247901

missense variant

G/A;C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1057521800

PHEX ; PTCHD1-AS

1.000

0.200

22219074

missense variant

A/G

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1064793956

PHEX

1.000

0.200

22090444

frameshift variant

TC/-

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1064796928

PHEX

1.000

0.200

22178377

splice donor variant

G/A;T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1085308012

PHEX

1.000

0.200

22133586

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1131691731

PHEX

1.000

0.200

22033124

splice donor variant

G/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1240767654

PHEX ; PTCHD1-AS

1.000

0.200

22226509

splice donor variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1269067103

PHEX ; PHEX-AS1

1.000

0.200

22168394

splice region variant

G/C;T

snv

5.5E-06

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs137853268

PHEX

1.000

0.200

22094080

stop gained

T/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs137853271

PHEX ; PTCHD1-AS

1.000

0.200

22212957

stop gained

C/A;T

snv

5.5E-06

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1400504292

PHEX ; PTCHD1-AS

1.000

0.200

22221719

stop gained

T/C;G

snv

3.8E-05

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556010757

PHEX

1.000

0.200

22033080

frameshift variant

-/T

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700