Congenital erythropoietic porphyria

Disease Term Disease ID Gene Symbol Classification References Source
Congenital erythropoietic porphyria 79277 GATA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
UROS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Porphyria, Erythropoietic C0162530 GATA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17148589 -
UROS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1733834, 1737856, 2331520, 7860775, 8655129, 9188670, 9803266, 9834209, 11121156, 11689424, 12060141, 12533808, 15304101, 21343304, 21365124, 21653323, 22350154, 27604308 -