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:

rs1556138769

PHEX ; PTCHD1-AS

1.000

0.200

22221744

splice donor variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556138742

PHEX ; PTCHD1-AS

1.000

0.200

22221725

frameshift variant

-/AAAG

delins

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:

rs886041367

PHEX ; PTCHD1-AS

1.000

0.200

22221696

frameshift variant

-/GATT

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556138590

PHEX ; PTCHD1-AS

1.000

0.200

22221675

frameshift variant

TT/-

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs755686699

PHEX ; PTCHD1-AS

0.882

0.200

22221653

stop gained

G/A;T

snv

5.5E-06

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

Hypophosphatemic Rickets, X-Linked Dominant

0.010

1.000

2007

dbSNP:

rs886041364

PHEX ; PTCHD1-AS

1.000

0.200

22221622

stop gained

-/TGAT

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556138407

PHEX ; PTCHD1-AS

1.000

0.200

22221617

stop gained

-/AATA

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs886041296

PHEX ; PTCHD1-AS

1.000

0.200

22219104

splice donor variant

G/A;C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs772130004

PHEX ; PTCHD1-AS

1.000

0.200

22219098

missense variant

A/G;T

snv

5.5E-06

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556135477

PHEX ; PTCHD1-AS

1.000

0.200

22219089

missense variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556135467

PHEX ; PTCHD1-AS

1.000

0.200

22219088

missense variant

G/A

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:

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:

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:

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:

rs1556135242

PHEX ; PTCHD1-AS

1.000

0.200

22219041

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556128253

PHEX ; PTCHD1-AS

1.000

0.200

22212960

splice donor variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs760870713

PHEX ; PTCHD1-AS

1.000

0.200

22212958

missense variant

G/A;C

snv

5.5E-06

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:

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:

rs1556128043

PHEX ; PTCHD1-AS

1.000

0.200

22212906

frameshift variant

TT/-

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs886041225

PHEX

1.000

0.200

22190503

splice donor variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs886041363

PHEX

1.000

0.200

22190458

missense variant

C/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

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