DisGeNET - a database of gene-disease associations

MTTP, microsomal triglyceride transfer protein, 4547

N. diseases: 209; N. variants: 35

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:

rs1560614154

1.000

0.080

99582057

frameshift variant

C/-

delins

CUI:	C0000744
Disease:	Abetalipoproteinemia

Abetalipoproteinemia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

0.700

dbSNP:

rs1560621444

1.000

0.080

99601606

splice acceptor variant

G/A

snv

CUI:	C0000744
Disease:	Abetalipoproteinemia

Abetalipoproteinemia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

0.700

dbSNP:

rs199422219

1.000

0.080

99611156

stop gained

C/T

snv

7.0E-06

CUI:	C0000744
Disease:	Abetalipoproteinemia

Abetalipoproteinemia

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

0.700