TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		0.900 Biomarker disease CTD_human
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		0.900 GermlineCausalMutation disease ORPHANET
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 CausalMutation disease CLINVAR
CUI: C0398562
Disease: Triose phosphate isomerase deficiency
Triose phosphate isomerase deficiency 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.130 Biomarker disease HPO
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia 		0.110 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		0.100 Biomarker disease HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		0.100 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.100 CausalMutation group CLINVAR
CUI: C0035232
Disease: Respiratory Paralysis
Respiratory Paralysis 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia 		0.100 Biomarker disease HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0235983
Disease: Normochromic anemia
Normochromic anemia 		0.100 Biomarker phenotype HPO
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.100 CausalMutation phenotype CLINVAR