Disease: Spherocytosis, Type 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 GeneticVariation disease UNIPROT 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 10406914 1999
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 GeneticVariation disease UNIPROT Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis. 8547071 1995
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 GeneticVariation disease UNIPROT Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. 8547605 1995
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 Biomarker disease GENOMICS_ENGLAND A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 GeneticVariation disease UNIPROT A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 GeneticVariation disease UNIPROT A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). 7819064 1994
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 Biomarker disease GENOMICS_ENGLAND An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 1558976 1992
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 GeneticVariation disease UNIPROT An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 1558976 1992
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 Biomarker disease CTD_human
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 CausalMutation disease CLINVAR