DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs1434545235 ×

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:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C2936791
Disease:	Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome, Autosomal Dominant

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C0220658
Disease:	Pfeiffer Syndrome

Pfeiffer Syndrome

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C0175699
Disease:	Saethre-Chotzen Syndrome

Saethre-Chotzen Syndrome

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C0001193
Disease:	Apert syndrome

Apert syndrome

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C3281247
Disease:	BENT BONE DYSPLASIA SYNDROME

BENT BONE DYSPLASIA SYNDROME

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C0795998
Disease:	JACKSON-WEISS SYNDROME

JACKSON-WEISS SYNDROME

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C1865070
Disease:	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C1852406
Disease:	Cutis Gyrata Syndrome of Beare And Stevenson

Cutis Gyrata Syndrome of Beare And Stevenson

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C2931196
Disease:	Craniofacial dysostosis type 1

Craniofacial dysostosis type 1

0.700

dbSNP:

rs1434545235

rs1434545235

FGFR2

0.752

0.440

10

121565500

missense variant

T/C

snv

4.0E-06

CUI:	C0265269
Disease:	Lacrimoauriculodentodigital syndrome

Lacrimoauriculodentodigital syndrome

0.700