PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.920 Biomarker disease CTD_human
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 Biomarker group GENOMICS_ENGLAND
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 CausalMutation group CGI
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 Biomarker group HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.400 Biomarker disease CTD_human
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.400 CausalMutation disease CLINVAR
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.400 Biomarker disease HPO
CUI: C0023418
Disease: leukemia
leukemia 		0.310 CausalMutation disease CGI
CUI: C0024302
Disease: Reticulosarcoma
Reticulosarcoma 		0.300 Biomarker disease CTD_human
CUI: C0024304
Disease: Lymphoma, Mixed-Cell
Lymphoma, Mixed-Cell 		0.300 Biomarker disease CTD_human
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.300 Biomarker disease CTD_human
CUI: C0024306
Disease: Lymphoma, Undifferentiated
Lymphoma, Undifferentiated 		0.300 Biomarker disease CTD_human
CUI: C0079740
Disease: High Grade Lymphoma (neoplasm)
High Grade Lymphoma (neoplasm) 		0.300 Biomarker disease CTD_human
CUI: C0079741
Disease: Lymphoma, Intermediate-Grade
Lymphoma, Intermediate-Grade 		0.300 Biomarker disease CTD_human
CUI: C0079747
Disease: Low Grade Lymphoma (neoplasm)
Low Grade Lymphoma (neoplasm) 		0.300 Biomarker disease CTD_human
CUI: C0079757
Disease: Diffuse Mixed-Cell Lymphoma
Diffuse Mixed-Cell Lymphoma 		0.300 Biomarker disease CTD_human
CUI: C0079770
Disease: Lymphoma, Small Noncleaved-Cell
Lymphoma, Small Noncleaved-Cell 		0.300 Biomarker disease CTD_human
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia 		0.300 Biomarker disease CTD_human
CUI: C3714542
Disease: Lymphoma, Diffuse
Lymphoma, Diffuse 		0.300 Biomarker disease CTD_human
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.300 Biomarker disease CTD_human
CUI: C0025289
Disease: Meningitis
Meningitis 		0.120 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.110 GeneticVariation disease CLINVAR
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO