NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Source: CURATED ×
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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 2 799 1.000 None 0.976 44 799 1977 2020
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 19 55 1.000 strong 0.957 7 20 1995 2015
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 1 11 1.000 strong 0.941 3 10 1992 2019
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 2 25 0.780 strong 1.000 6 25 2001 2016
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
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 5 18 1993 2017
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 2 22 2001 2013
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 248 212 0.600 None 1.000 2 1993 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 87 97 0.580 None 1.000 1 1994 2019
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2 1 0.500 None 0.964 1 1 1992 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 25 11 0.480 None 1.000 2 1 1996 2014
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 25 4 0.470 None 1.000 2 1 1996 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.430 None 1.000 1 1992 2011
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 79 137 0.400 None 0.909 1 2005 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 19 149 0.400 None 1.000 1 1994 2018
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.400 None 1.000 0 1989 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1074 1390 0.390 None 1.000 0 2001 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 173 6669 0.380 None 1.000 2 1994 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 111 31 0.380 None 0.889 1 2009 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.350 None 1.000 1 1999 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 24 153 0.350 strong 1.000 1 1993 2013
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 2 0.340 None 1.000 1 1998 2011
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 55 6 0.340 None 1.000 0 1997 2008
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors 		group Neoplasms; Nervous System Diseases Neoplastic Process 5 0.330 None 1.000 2 2003 2014
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 2 0.330 None 1.000 1 2005 2019
CUI: C0279987
Disease: Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.330 None 1.000 0 2011 2015