DisGeNET - a database of gene-disease associations

rs760768093, TTN-AS1;TTN

N. diseases: 7

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.

Cardiomyopathy, Dilated, 1g

CUI:	C1858763
Disease:	Cardiomyopathy, Dilated, 1g

308

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700

1.000

2008

2014

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

230

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700

1.000

2008

2014

Decreased patellar reflex

CUI:	C3277184
Disease:	Decreased patellar reflex

2

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700

Muscular Dystrophies, Limb-Girdle

CUI:	C0686353
Disease:	Muscular Dystrophies, Limb-Girdle

37

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700

Muscular Dystrophy

CUI:	C0026850
Disease:	Muscular Dystrophy

67

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700

Proximal lower limb amyotrophy

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

4

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700

Waddling gait

CUI:	C0231712
Disease:	Waddling gait

8

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

0.700