Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 5922
Gene Symbol: RASA2
RASA2
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 6237
Gene Symbol: RRAS
RRAS
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 22808
Gene Symbol: MRAS
MRAS
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal
0.100 Biomarker HPO