Disease Term Disease ID Gene Symbol Classification References Source
Cystathionine beta-Synthase Deficiency Disease C0751202 CBS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301198, 6711564, 7506602, 7564249, 7581402, 7611293, 7635485, 7762555, 7849717, 7967489, 7981678, 8353501, 8528202, 8744616, 8755636, 8803779, 8940271, 8990018, 9156316, 9232191, 9266356, 9361025, 9587029, 9590298, 9870207, 9889017, 10215408, 10328723, 10338090, 10364517, 10408774, 10462600, 10687314, 10807759, 11013450, 11343305, 11359213, 11553052, 12007221, 12124992, 12269827, 12379655, 12552044, 12686134, 12815602, 12828591, 13654400, 14635102, 14722927, 14972327, 15146473, 15192637, 15365998, 15993874, 16205833, 16245937, 16307898, 16429402, 16470595, 16479318, 16619244, 16786517, 17069888, 17327360, 17352495, 18280597, 18423051, 18805305, 18987302, 19370759, 19819175, 19914636, 20066033, 20308073, 20455263, 20490928, 20506325, 20567906, 20694756, 20821054, 20871414, 21030686, 21240075, 21517828, 21520339, 22069143, 22267502, 22382802, 22612060, 22738154, 22977242, 22985361, 23592311, 23733603, 23974653, 23981774, 24138954, 24211323, 24613005, 24816252, 25044645, 25197074, 25218699, 25331909, 25455305 -
MTRR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12555939, 15714522 -
PKHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -