NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
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: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.100 None 0 1
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C1855067
Disease: B lymphocytopenia
B lymphocytopenia 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 13 0.100 None 0
CUI: C0042023
Disease: Increased frequency of micturition
Increased frequency of micturition 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 6 0.100 None 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C0037199
Disease: Sinusitis
Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		phenotype Finding 16 0.100 None 0
CUI: C1858732
Disease: Malar prominence
Malar prominence 		phenotype Finding 10 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.100 None 0
CUI: C1839798
Disease: Long nose
Long nose 		phenotype Finding 29 2 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 42 5 0.100 None 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0024904
Disease: Mastoiditis
Mastoiditis 		disease Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0 1