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:

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:

rs1556206335

PHEX ; PTCHD1-AS

1.000

0.200

22247942

stop lost

CGACTCTGGTAGCT/-

del

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs886041227

PHEX ; PTCHD1-AS

1.000

0.200

22247942

stop gained

C/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

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:

rs1556206093

PHEX ; PTCHD1-AS

1.000

0.200

22247899

frameshift variant

-/TCCACCCAATTCCACGATG

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs886041631

PHEX ; PTCHD1-AS

1.000

0.200

22247893

frameshift variant

T/-

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556205815

PHEX ; PTCHD1-AS

1.000

0.200

22247849

splice acceptor variant

A/G

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556201217

PHEX ; PTCHD1-AS

1.000

0.200

22245412

splice region variant

A/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

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:

rs886041226

PHEX ; PTCHD1-AS

1.000

0.200

22245366

stop gained

C/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556201034

PHEX ; PTCHD1-AS

1.000

0.200

22245354

frameshift variant

C/-

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

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:

rs886041374

PHEX ; PTCHD1-AS

1.000

0.200

22245332

splice acceptor variant

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556151545

PHEX ; PTCHD1-AS

1.000

0.200

22227585

stop gained

C/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

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:

rs193922457

PHEX ; PTCHD1-AS

1.000

0.200

22227540

stop gained

G/T

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556151137

PHEX ; PTCHD1-AS

1.000

0.200

22227526

stop gained

-/TGAC

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs886041369

PHEX ; PTCHD1-AS

1.000

0.200

22227520

stop gained

G/A

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556151071

PHEX ; PTCHD1-AS

1.000

0.200

22227512

stop gained

C/G

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556151004

PHEX ; PTCHD1-AS

1.000

0.200

22227498

splice region variant

TCT/-

del

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:

rs748792378

PHEX ; PTCHD1-AS

1.000

0.200

22226495

missense variant

G/A;C

snv

3.8E-05

6.8E-05

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs193922456

PHEX ; PTCHD1-AS

1.000

0.200

22226492

missense variant

T/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556148532

PHEX ; PTCHD1-AS

1.000

0.200

22226479

missense variant

G/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556148392

PHEX ; PTCHD1-AS

1.000

0.200

22226451

frameshift variant

-/A

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700