Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117225135
rs117225135
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.800 CausalMutation CLINVAR New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. 26141459 2016
dbSNP: rs117225135
rs117225135
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.800 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818 2015
dbSNP: rs117225135
rs117225135
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.800 GeneticVariation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
dbSNP: rs117225135
rs117225135
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.800 CausalMutation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
dbSNP: rs117225135
rs117225135
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs138884194
rs138884194
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		T 0.700 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818 2015
dbSNP: rs745432268
rs745432268
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		T 0.700 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818 2015
dbSNP: rs760386662
rs760386662
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.700 GeneticVariation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818 2015
dbSNP: rs760386662
rs760386662
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.700 GeneticVariation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293 2012
dbSNP: rs1554791360
rs1554791360
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs1564391327
rs1564391327
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease:
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231237
rs606231237
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C3554366
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		G 0.700 CausalMutation CLINVAR
dbSNP: rs762729182
rs762729182
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C3554366
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs770649540
rs770649540
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C3554366
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs776497952
rs776497952
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.010 GeneticVariation BEFREE A novel mutation, c.528_530delAGT, in the gap junction protein beta 1 (GJB1) gene for CMTX, and a rare variation, c.2369C>T, in the dehydrogenase E1 and transketolase domain containing 1 (DHTKD1) gene for CMT disease type 2Q (CMT2Q), were identified in the proband and his mother. 30896807 2019