Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
0.100 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
0.110 Biomarker HPO

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
0.100 Biomarker HPO

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
0.100 Biomarker HPO