NUP88, nucleoporin 88, 4927

N. diseases: 58; N. variants: 5
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: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.410 None 1.000 1 2018 2018
CUI: C4505456
Disease: HIV Coinfection
HIV Coinfection
disease Infections; Immune System Diseases Disease or Syndrome 129 3 0.300 None 1.000 1 2004 2004
CUI: C0019693
Disease: HIV Infections
HIV Infections
group Infections; Immune System Diseases Disease or Syndrome 807 142 0.300 None 1.000 1 2004 2004
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 6 3 2015 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 1.000 2 1 2014 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic
disease Neoplasms Neoplastic Process 43 1 0.100 None 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
disease Acquired Abnormality 120 1 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia
phenotype Finding 7 0.100 None 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease
phenotype Finding 9 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck
phenotype Finding 22 10 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Disease or Syndrome 39 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0