NUP98, nucleoporin 98 and 96 precursor, 4928

N. diseases: 129; N. variants: 2
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: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 2005 2013
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.020 None 1.000 2 1999 2019
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
disease Neoplastic Process 49 1 0.020 None 1.000 2 1999 2003
Treatment related acute myeloid leukaemia
disease Neoplastic Process 65 4 0.020 None 1.000 2 1999 2011
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.010 None 1.000 1 2018 2018
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None < 0.001 1 2012 2012
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
disease Neoplastic Process 240 2 0.010 None 1.000 1 2017 2017
Infant T Acute Lymphoblastic Leukemia
disease Neoplastic Process 75 1 0.010 None 1.000 1 2001 2001
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
disease Finding 12 52 0.100 None 0 1
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2019 2019
CUI: C0027059
Disease: Myocarditis
Myocarditis
disease Cardiovascular Diseases Disease or Syndrome 285 2 0.010 None 1.000 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.060 None 1.000 6 1999 2006
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.010 None 1.000 1 2019 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2018 2018
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 2017 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.010 None 1.000 1 2017 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2017 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2014 2014
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection
disease Digestive System Diseases; Infections Disease or Syndrome 72 4 0.010 None 1.000 1 2002 2002
CUI: C0035613
Disease: Rift Valley Fever
Rift Valley Fever
disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 45 0.010 None < 0.001 1 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 2012 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2018 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2016 2016
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2017 2017