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: C1333003
Disease: Childhood Kidney Neoplasm
Childhood Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C0221252
Disease: Eruptive xanthoma
Eruptive xanthoma 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 1 0.100 None 0 1
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		phenotype Wounds and Injuries Pathologic Function 5 1 0.210 None 1.000 2 1996 2006
CUI: C0346057
Disease: Cutaneous neurofibroma
Cutaneous neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 5 1 0.010 None 1.000 1 1997 1997
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality 5 6 0.010 None 1.000 1 1995 1995
CUI: C0751374
Disease: Schwannomatosis, Plexiform
Schwannomatosis, Plexiform 		disease Neoplasms Neoplastic Process 5 0.300 None 1.000 1 2014 2014
CUI: C0917817
Disease: Neurofibromatosis 3
Neurofibromatosis 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 5 0.300 None 1.000 1 2010 2010
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		phenotype Finding 5 1 0.100 None 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Finding 5 1 0.100 None 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		phenotype Finding 5 0.100 None 0
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		phenotype Skin and Connective Tissue Diseases Finding 6 12 0.100 None 0 12
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		phenotype Finding 6 0.100 None 0
CUI: C0031118
Disease: Peripheral Nervous System Neoplasms
Peripheral Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 7 0.020 None 1.000 2 1996 2000
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 9 11 0.010 None 1.000 1 2016 2016
CUI: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.100 None 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 9 0.100 None 0
CUI: C0796418
Disease: Visual Pathway Glioma
Visual Pathway Glioma 		disease Neoplasms Neoplastic Process 10 0.050 None 1.000 5 2008 2018
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 11 8 0.010 None 1.000 1 2013 2013
CUI: C0035320
Disease: Retinal Neovascularization
Retinal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.300 None 1.000 1 2018 2018
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 13 32 0.050 None 1.000 5 2009 2019
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome; Anatomical Abnormality 16 2 0.020 None 1.000 2 2013 2019
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		disease Disease or Syndrome 16 62 0.010 None 1.000 1 2017 2017
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		disease Finding 16 0.100 None 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		disease Anatomical Abnormality 16 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0