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
CUI: C0221409
Disease: Anemia, hereditary spherocytic hemolytic
Anemia, hereditary spherocytic hemolytic 		0.500 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C0221409
Disease: Anemia, hereditary spherocytic hemolytic
Anemia, hereditary spherocytic hemolytic 		0.500 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: C0221409
Disease: Anemia, hereditary spherocytic hemolytic
Anemia, hereditary spherocytic hemolytic 		0.500 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: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GeneticVariation disease BEFREE With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. 29402830 2019
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 Biomarker disease LHGDN Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47. 12393467 2003
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GeneticVariation disease BEFREE The mutations of most cases of hereditary spherocytosis (HS) are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively. 12432217 2002
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.300 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: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		0.300 Biomarker phenotype GENOMICS_ENGLAND A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 7772513 1995
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.300 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: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		0.300 Biomarker phenotype 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: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		0.200 Biomarker disease MGD Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice. 10359562 1999
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.100 Biomarker disease HPO