Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.330 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		0.700 CausalMutation disease CLINVAR
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 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 Biomarker disease CTD_human
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: 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: 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: 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: 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: 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: 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
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0018099
Disease: Gout
Gout 		0.100 Biomarker disease HPO
CUI: C0018952
Disease: Extramedullary Hematopoiesis Function
Extramedullary Hematopoiesis Function 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 Biomarker disease HPO