NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
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: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 1 0.040 None 1.000 4 1 2000 2016
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 1 22 0.720 strong 1.000 4 22 2001 2013
CUI: C4024217
Disease: Spinal neurofibromas
Spinal neurofibromas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 2 0.130 None 0.667 3 2 1997 2011
CUI: C0332881
Disease: Congenital pseudoarthrosis
Congenital pseudoarthrosis
disease Wounds and Injuries Congenital Abnormality 1 0.020 None 1.000 2 2007 2012
CUI: C0334467
Disease: Fibrolipoma
Fibrolipoma
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 1995 1995
CUI: C0349538
Disease: Malignant melanoma of anus
Malignant melanoma of anus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2001 2001
CUI: C1709220
Disease: Desmoplastic Neurotropic Melanoma
Desmoplastic Neurotropic Melanoma
disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C3532247
Disease: Fetal cardiomyopathy
Fetal cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4024216
Disease: Tibial pseudoarthrosis
Tibial pseudoarthrosis
disease Wounds and Injuries Anatomical Abnormality 1 1 0.110 None 1.000 1 1 2014 2014
Symmetric spinal nerve root neurofibromas
disease Neoplastic Process 1 0.100 None 0
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling
phenotype Skin and Connective Tissue Diseases Finding 1 7 0.100 None 0 7
CUI: C1860334
Disease: Lisch nodules
Lisch nodules
phenotype Finding 1 5 0.100 None 0 5
Neurofibromatosis, type 4, of Riccardi
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 2 0.200 None 1.000 4 1994 2018
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome
disease Disease or Syndrome 2 3 0.100 None 1.000 1 2 2018 2018
Large cafe-au-lait macules with irregular margins
phenotype Finding 2 1 0.100 None 0 1
Cafe-au-lait macules with pulmonary stenosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 3 18 0.730 strong 1.000 8 18 1993 2017
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma
disease Neoplasms Disease or Syndrome 3 2 0.010 None 1.000 1 1999 1999
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
Malignant phyllodes tumor of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 1 0.010 None 1.000 1 2010 2010
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2005 2005
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1827970
Disease: Neurofibroma of subcutaneous tissue
Neurofibroma of subcutaneous tissue
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 3 3 0.100 None 0 3
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 25 0.780 strong 1.000 13 25 2001 2016
CUI: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 0.330 None 1.000 3 2005 2019
CUI: C0851265
Disease: Learning problems
Learning problems
disease Mental or Behavioral Dysfunction 4 0.020 None 1.000 2 2001 2012
CUI: C0043324
Disease: Juvenile Xanthogranuloma
Juvenile Xanthogranuloma
disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 2 0.010 None < 0.001 1 2015 2015