DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hypophosphatemic Rickets, X-Linked Dominant ×

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:

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

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:

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:

rs1556071138

PHEX

1.000

0.200

22178360

frameshift variant

-/C

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs193922460

PHEX

1.000

0.200

22096988

frameshift variant

-/CC

delins

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:

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

dbSNP:

rs1556071123

PHEX

1.000

0.200

22178358

frameshift variant

-/T

ins

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:

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:

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:

rs1556023503

PHEX

1.000

0.200

22090469

frameshift variant

A/-

del

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556026042

PHEX

1.000

0.200

22099114

frameshift variant

A/-

delins

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556030487

PHEX

1.000

0.200

22114553

frameshift variant

A/-

del

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs780229030

RELB

0.851

0.280

45032710

missense variant

A/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.010

1.000

2006

dbSNP:

rs1556070890

PHEX

1.000

0.200

22178313

missense variant

A/C

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs202164519

PHEX

1.000

0.200

22133579

missense variant

A/C

snv

2.2E-05

3.8E-05

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:

rs1556020818

PHEX

1.000

0.200

22077630

synonymous variant

A/G

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556026033

PHEX

1.000

0.200

22099109

missense variant

A/G

snv

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

Hypophosphatemic Rickets, X-Linked Dominant

0.700

dbSNP:

rs1556070724

PHEX

1.000

0.200

22178271

splice acceptor variant

A/G

snv

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:

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:

rs11646213

0.827

0.320

82609046

intergenic variant

A/T

snv

0.47

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

Hypophosphatemic Rickets, X-Linked Dominant

0.010

1.000

2009

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