NFIB, nuclear factor I B, 4781

N. diseases: 102; N. variants: 22
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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.300 moderate 1.000 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 4 2018 2018
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		disease Injury or Poisoning 55 54 0.100 None 1.000 1 1 2019 2019
CUI: C1266086
Disease: Polymorphous low grade adenocarcinoma
Polymorphous low grade adenocarcinoma 		disease Neoplastic Process 23 1 0.010 None 1.000 1 2012 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C3273254
Disease: Arterionephrosclerosis
Arterionephrosclerosis 		disease Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2011 2011
CUI: C4748993
Disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 		disease Disease or Syndrome 1 7 0.600 None 1.000 1 7 2018 2018
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 7
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 7
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype Finding 47 2 0.100 None 0
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2019 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 2018 2018
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 106 15 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.410 moderate 1.000 1 2018 2018
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2017 2017