NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 CausalMutation group CGI
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 GenomicAlterations group CGI
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 Biomarker disease CTD_human
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 Biomarker disease CTD_human
CUI: C0025202
Disease: melanoma
melanoma 		0.600 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.600 GenomicAlterations disease CGI
CUI: C0017638
Disease: Glioma
Glioma 		0.580 CausalMutation disease CGI
CUI: C0017638
Disease: Glioma
Glioma 		0.580 GenomicAlterations disease CGI
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		0.400 CausalMutation disease CGI
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		0.400 GenomicAlterations disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.390 GeneticVariation disease UNIPROT
CUI: C0023418
Disease: leukemia
leukemia 		0.340 CausalMutation disease CGI
CUI: C0023418
Disease: leukemia
leukemia 		0.340 GenomicAlterations disease CGI
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
Adult Malignant Peripheral Nerve Sheath Tumor 		0.330 CausalMutation disease CGI
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
Adult Malignant Peripheral Nerve Sheath Tumor 		0.330 GenomicAlterations disease CGI
CUI: C0279987
Disease: Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor 		0.330 GenomicAlterations disease CGI
CUI: C0279987
Disease: Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor 		0.330 CausalMutation disease CGI
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.310 GenomicAlterations disease CGI
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.310 CausalMutation disease CGI
CUI: C3150928
Disease: NF1 Microdeletion Syndrome
NF1 Microdeletion Syndrome 		0.330 ChromosomalRearrangement disease ORPHANET NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas. 22241097 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CTD_human A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316 2011