DisGeNET - a database of gene-disease associations

rs757082154, TTN;TTN-AS1

N. diseases: 9

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.

Decreased patellar reflex

CUI:	C3277184
Disease:	Decreased patellar reflex

2

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Muscle Weakness Lower Limb

CUI:	C1836296
Disease:	Muscle Weakness Lower Limb

15

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Muscular Dystrophies, Limb-Girdle

CUI:	C0686353
Disease:	Muscular Dystrophies, Limb-Girdle

37

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Muscular Dystrophy

CUI:	C0026850
Disease:	Muscular Dystrophy

67

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Myopathy

CUI:	C0026848
Disease:	Myopathy

166

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Proximal lower limb amyotrophy

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

4

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Rimmed vacuoles on biopsy

CUI:	C1853932
Disease:	Rimmed vacuoles on biopsy

2

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Waddling gait

CUI:	C0231712
Disease:	Waddling gait

8

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.700

Distal Muscular Dystrophies

CUI:	C0751336
Disease:	Distal Muscular Dystrophies

18

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

0.010

1.000

2017

2017