Disease Term Disease ID Gene Symbol Classification References Source
Hyperhomocysteinemia C0598608 CBS Causal Pathogenic evidence from ClinVar 17292331, 19028542, 19204075 ClinVar
CASP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22647887 -
DES Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20116427 -
GNMT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16317120 -
MTHFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10459572, 15226090, 16317120, 16397167, 16411416, 16575899, 17387702, 18234410, 18551038, 19204075, 19646848 -
MTRR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16575899, 17369066 -
NPHS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20116427 -
PON1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17292331, 19028542 -
PYCARD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22647887 -
SLC46A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19204075 -
TNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12615666 -
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED C3150344 CBS Causal Pathogenic evidence from ClinVar 1301198, 2056790, 7506602, 7581402, 7611293, 7635485, 7762555, 7849717, 8744616, 8755636, 8803779, 9156316, 9587029, 9708897, 9870207, 9889017, 10215408, 10338090, 10364517, 10408774, 11359213, 11434706, 11774777, 12007221, 12124992, 12815602, 14635102, 14722619, 14972327, 15146473, 15365998, 15993874, 16205833, 16307898, 16429402, 16470595, 16479318, 17072863, 18280597, 18708589, 18805305, 19370759, 19819175, 20066033, 20308073, 20490928, 20506325, 20567906, 21030686, 21517828, 21520339, 22069143, 22267502, 22612060, 22985361, 23733603, 23812867, 23974653, 24211323, 25044645, 25218699, 25516723, 26464485, 29326875, 29352562 ClinVar