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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608 1992
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. 1377942 1992
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220 1990
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.300 Biomarker disease CLINGEN Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. 7519874 1994