NPM1, nucleophosmin 1, 4869

N. diseases: 283; N. variants: 7
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0153888
Disease: Chronic myeloid leukemia in remission
Chronic myeloid leukemia in remission 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C2826176
Disease: Acute Myeloid Leukemia with Gene Mutations
Acute Myeloid Leukemia with Gene Mutations 		disease Neoplasms Neoplastic Process 2 0.020 None 1.000 2 2019 2019
CUI: C0851445
Disease: Haematopoietic neoplasms (excl leukaemias and lymphomas)
Haematopoietic neoplasms (excl leukaemias and lymphomas) 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C2826178
Disease: Acute myeloid leukemia with mutated CEBPA
Acute myeloid leukemia with mutated CEBPA 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2014 2014
CUI: C0153886
Disease: Acute myeloid leukemia in remission
Acute myeloid leukemia in remission 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 3 0.010 None 1.000 1 2014 2014
CUI: C0279623
Disease: Adult Acute Myeloid Leukemia without Maturation
Adult Acute Myeloid Leukemia without Maturation 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2016 2016
CUI: C0349667
Disease: Sarcoma of breast
Sarcoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4 0.010 None 1.000 1 2010 2010
CUI: C0795824
Disease: Chromosome 8, monosomy 8p
Chromosome 8, monosomy 8p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C1333294
Disease: ALK positive large B-cell lymphoma
ALK positive large B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2009 2009
CUI: C1579029
Disease: Chronic uremia
Chronic uremia 		disease Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C2826177
Disease: Acute myeloid leukemia with mutated NPM1
Acute myeloid leukemia with mutated NPM1 		disease Neoplasms Neoplastic Process 8 0.030 None 1.000 3 2009 2018
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
Myeloproliferative Neoplasm, Unclassifiable 		disease Neoplastic Process 8 3 0.010 None 1.000 1 2018 2018
CUI: C2930975
Disease: Acute erythroleukemia - M6a subtype
Acute erythroleukemia - M6a subtype 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C2930976
Disease: Acute myeloid leukemia FAB-M6
Acute myeloid leukemia FAB-M6 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C2930977
Disease: Acute erythroleukemia - M6b subtype
Acute erythroleukemia - M6b subtype 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2019 2019
CUI: C4518436
Disease: Anaplastic lymphoma kinase positive anaplastic large cell lymphoma
Anaplastic lymphoma kinase positive anaplastic large cell lymphoma 		disease Neoplastic Process 8 0.010 None 1.000 1 2007 2007
CUI: C0238246
Disease: Hemangioma of liver
Hemangioma of liver 		disease Digestive System Diseases; Neoplasms; Cardiovascular Diseases Neoplastic Process 10 0.010 None 1.000 1 2007 2007
CUI: C0280028
Disease: Refractory anemia with excess blasts in transformation (clinical)
Refractory anemia with excess blasts in transformation (clinical) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2014 2014
CUI: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.300 None 1.000 1 2019 2019
CUI: C0677730
Disease: Aggressive Adult Non-Hodgkin Lymphoma
Aggressive Adult Non-Hodgkin Lymphoma 		disease Neoplastic Process 16 0.010 None 1.000 1 2005 2005
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
Anaplastic large B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 1 0.020 None 1.000 2 1997 2018
CUI: C0432409
Disease: Trisomy 11
Trisomy 11 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 17 0.010 None 1.000 1 2011 2011
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 33 0.300 None 1.000 1 2019 2019
CUI: C0025874
Disease: Metrorrhagia
Metrorrhagia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 17 2 0.100 None 0