DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX ×

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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:

rs1244226820

rs1244226820

TIMM50

1.000

19

39485761

missense variant

C/T

snv

4.0E-06

CUI:	C4540171
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE IX

3-METHYLGLUTACONIC ACIDURIA, TYPE IX

0.700

dbSNP:

rs1300848445

rs1300848445

TIMM50

1.000

19

39485570

missense variant

C/T

snv

8.0E-06

CUI:	C4540171
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE IX

3-METHYLGLUTACONIC ACIDURIA, TYPE IX

0.700

dbSNP:

rs1305711807

rs1305711807

TIMM50

1.000

19

39486463

missense variant

G/A

snv

4.0E-06

7.0E-06

CUI:	C4540171
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE IX

3-METHYLGLUTACONIC ACIDURIA, TYPE IX

0.700

dbSNP:

rs1449758112

rs1449758112

TIMM50

1.000

19

39488079

missense variant

C/T

snv

8.0E-06

CUI:	C4540171
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE IX

3-METHYLGLUTACONIC ACIDURIA, TYPE IX

0.700