SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.750 Biomarker disease HPO
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2 		0.700 Biomarker disease CTD_human
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 GeneticVariation disease CLINVAR
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.680 CausalMutation disease CLINVAR
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3 		0.600 CausalMutation disease CLINVAR
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.400 CausalMutation disease CLINVAR
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.400 Biomarker disease HPO
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		0.400 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.110 CausalMutation phenotype CLINVAR
CUI: C0022346
Disease: Icterus
Icterus 		0.110 Biomarker phenotype HPO
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		0.110 CausalMutation disease CLINVAR
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: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		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: C0015672
Disease: Fatigue
Fatigue 		0.100 CausalMutation phenotype CLINVAR
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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 Biomarker disease HPO
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 CausalMutation phenotype CLINVAR