| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | disease | BEFREE | Mutations in NF1 are linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. | 29354122 | 2017 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | The RASopathies. | 23875798 | 2013 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Neurofibromatosis type 1 (NF1) and its related disorders (NF1-Noonan syndrome (NFNS) and Watson syndrome (WS)) are caused by heterozygous mutations in the NF1 gene. | 23047742 | 2013 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. | 22847776 | 2012 | ||||
|
0.730 | Biomarker | disease | CTD_human | Ras signaling pathways mediate NGF-induced enhancement of excitability of small-diameter capsaicin-sensitive sensory neurons from wildtype but not Nf1+/- mice. | 21501659 | 2011 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. | 11704931 | 2001 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Here we provide evidence for the former by demonstrating a mutation in the NF1 gene in a family with features of both WS and NS. | 8317503 | 1993 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | |||||||
|
0.730 | GeneticVariation | disease | CLINVAR | |||||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Multiple café au lait spots in familial patients with MAP2K2 mutation. | 24311457 | 2014 | ||||
|
0.300 | Biomarker | disease | CTD_human | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |