Hypophosphatasia

Disease Term Disease ID Gene Symbol Classification References Source
Adult hypophosphatasia 247676 ALPL Causal Pathogenic evidence from ClinVar - ClinVar
Adult hypophosphatasia (disorder) C0268413 ALPL Causal Pathogenic evidence from ClinVar 1409720, 3174660, 7833929, 8406453, 8954059, 9452105, 9747027, 9781036, 10094560, 10332035, 10679946, 10690885, 10737975, 10834525, 11438998, 11479741, 11745997, 11760847, 11834095, 11855933, 11999978, 12815606, 12920074, 15135428, 15694177, 17213282, 17916236, 18455459, 19500388, 22266140, 23039266, 23688511, 25982064, 30979546 ClinVar
Childhood hypophosphatasia (disorder) C0220743 ALPL Causal Pathogenic evidence from ClinVar 1409720, 10737975, 11760847, 17213282, 17719863, 17916236, 19500388, 20739387, 24569605, 30979546 ClinVar
Childhood-onset hypophosphatasia 247667 ALPL Causal Pathogenic evidence from ClinVar - ClinVar
Hypophosphatasia C0020630 ALPL Causal Pathogenic evidence from ClinVar 1409720, 8954059, 9452105, 10094560, 10332035, 10737975, 10839996, 11438998, 11760847, 11855933, 12162492, 12357339, 15135428, 15137467, 15694177, 17719863, 18455459, 18769927, 18821074, 18925618, 19500388, 20739387, 22913777, 24276437, 24569605, 25023282, 25731960, 26783040, 27179278, 27466191, 28401263, 30293248 ClinVar
P2RX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27466191 -
Hypophosphatasia, Perinatal Lethal C2673477 ALPL Causal Pathogenic evidence from ClinVar 10737975, 17916236 ClinVar
Infantile hypophosphatasia 247651, C0268412 ALPL Causal Pathogenic evidence from ClinVar 1409720, 3174660, 7833929, 8406453, 8954059, 9452105, 9562633, 9618260, 9781036, 10094560, 10332035, 10679946, 10737975, 10834525, 10839996, 11438998, 11479741, 11745997, 11760847, 11810413, 11855933, 11999978, 12162492, 12638946, 12815606, 15135428, 15137467, 15300736, 15660230, 15694177, 15794757, 15840803, 16583935, 16769381, 17213282, 17253930, 17409132, 17719863, 17916236, 17922851, 18386808, 18455459, 18523927, 18559907, 18769927, 18925618, 19232125, 19335222, 19500388, 20049532, 20383509, 20924064, 21168482, 21713987, 21956185, 22014174, 22397652, 23454488, 23509830, 23580367, 23688511, 23926372, 24100244, 24145968, 24276437, 24569605, 25731960, 25736332, 26432670, 26459154, 26783040, 27179278, 27312557, 28127875, 28401263, 28436937, 28506345, 28663156, 28939177, 29236161, 30979546 ClinVar