DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I ×

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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

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs121434636

rs121434636

AUH

1.000

0.080

9

91297993

stop gained

G/A

snv

1.2E-05

2.8E-05

CUI:	C0342727
Disease:	3-@METHYLGLUTACONIC ACIDURIA, TYPE I

3-@METHYLGLUTACONIC ACIDURIA, TYPE I

0.710

1.000

2002

2003

dbSNP:

rs200030276

rs200030276

AUH

1.000

0.080

9

91355928

missense variant

G/A

snv

8.0E-06

7.0E-06

CUI:	C0342727
Disease:	3-@METHYLGLUTACONIC ACIDURIA, TYPE I

3-@METHYLGLUTACONIC ACIDURIA, TYPE I

0.700