DisGeNET - a database of gene-disease associations

TRAPPC12, trafficking protein particle complex 12, 51112

N. diseases: 28; N. variants: 4

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs768950892

1.000

3478848

missense variant

C/T

snv

8.0E-06

7.0E-06

CUI:	C4540059
Disease:	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY

0.800

1.000

2017

dbSNP:

rs35067331

1.000

0.120

3470314

intron variant

C/T

snv

0.27

CUI:	C0085220
Disease:	Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy

Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases

0.700

1.000

2018

dbSNP:

rs1135401749

1.000

3387978

frameshift variant

-/C

delins

CUI:	C4540059
Disease:	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY

0.700

dbSNP:

rs1553309983

1.000

3387768

frameshift variant

G/-

del

CUI:	C4540059
Disease:	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY

0.700