DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA ×

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

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs117225135

rs117225135

DHTKD1

1.000

10

12112930

missense variant

G/A

snv

1.7E-03

1.9E-03

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.800

1.000

2012

2016

dbSNP:

rs760386662

rs760386662

DHTKD1

1.000

10

12106245

splice acceptor variant

G/A

snv

2.8E-05

2.1E-05

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

1.000

2012

2015

dbSNP:

rs138884194

rs138884194

DHTKD1

1.000

10

12094222

stop gained

G/A;T

snv

8.0E-06; 6.0E-05

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

1.000

2015

2015

dbSNP:

rs745432268

rs745432268

DHTKD1

1.000

10

12107995

stop gained

C/T

snv

1.2E-05

4.9E-05

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

1.000

2015

2015

dbSNP:

rs1554791360

rs1554791360

DHTKD1

1.000

10

12084695

frameshift variant

-/A

delins

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

dbSNP:

rs1564391327

rs1564391327

DHTKD1

1.000

10

12089016

frameshift variant

G/-

del

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700