NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 GeneticVariation disease BEFREE Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations. 23780384 2013
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 GeneticVariation disease BEFREE Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. 21365283 2011
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 Biomarker disease GENOMICS_ENGLAND Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 11704931 2001
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 GeneticVariation disease UNIPROT Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 11704931 2001
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 GeneticVariation disease CLINVAR
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 Biomarker disease CTD_human
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		0.720 CausalMutation disease CLINVAR