Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 GeneticVariation disease UNIPROT Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 31191338 2019
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 GeneticVariation disease UNIPROT Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. 29885034 2018
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. 29885034 2018
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 CausalMutation disease CLINVAR Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. 23716552 2013
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 GeneticVariation disease UNIPROT Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. 23716552 2013
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 GeneticVariation disease CLINVAR Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. 23716552 2013
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 Biomarker disease GENOMICS_ENGLAND Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. 9220189 1997