Mandibulofacial dysostosis

Disease Term Disease ID Gene Symbol Classification References Source
Mandibulofacial Dysostosis C0242387 EDNRA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20583178 -
EFTUD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POLR1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21131976 -
POLR1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21131976 -
TCOF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8741923, 8894686, 9042910, 9736782, 11013442, 12114482, 14598341, 16938878, 20003452, 21951868, 22317976 -
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive C1855433 POLR1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9653160, 21131976, 26151409, 29567474 -