DisGeNET - a database of gene-disease associations

rs549625604, BBS10

N. diseases: 13

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Muscle hypotonia

CUI:	C0026827
Disease:	Muscle hypotonia

579

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

1.000

1999

2013

Overgrowth

CUI:	C1849265
Disease:	Overgrowth

93

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

1.000

1999

2013

BARDET-BIEDL SYNDROME 10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

94

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

1.000

2006

2016

Bardet-Biedl Syndrome

CUI:	C0752166
Disease:	Bardet-Biedl Syndrome

163

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

1.000

2006

2019

Retinitis Pigmentosa

CUI:	C0035334
Disease:	Retinitis Pigmentosa

541

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

1.000

2006

2006

Bardet-Biedl syndrome 1 (disorder)

CUI:	C2936862
Disease:	Bardet-Biedl syndrome 1 (disorder)

65

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

BARDET-BIEDL SYNDROME 6/10, DIGENIC

CUI:	C4017660
Disease:	BARDET-BIEDL SYNDROME 6/10, DIGENIC

1

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

Hypogonadism

CUI:	C0020619
Disease:	Hypogonadism

24

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

Mesoaxial hand polydactyly

CUI:	C4021606
Disease:	Mesoaxial hand polydactyly

2

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

Nyctalopia

CUI:	C0028077
Disease:	Nyctalopia

18

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

Obesity

CUI:	C0028754
Disease:	Obesity

1111

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

Poor school performance

CUI:	C1843367
Disease:	Poor school performance

411

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700

Postaxial foot polydactyly

CUI:	C2112129
Disease:	Postaxial foot polydactyly

4

0.752

0.280

12

76347713

frameshift variant

-/A

delins

6.0E-04

0.700