Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		0.300 Biomarker disease CLINGEN
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.300 Biomarker disease CLINGEN
Entrez Id: 147409
Gene Symbol: DSG4
DSG4 		0.010 GeneticVariation disease BEFREE Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein. 24124081 2013
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.020 Biomarker disease BEFREE Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy. 26096762 2015
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.020 GeneticVariation disease BEFREE Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. 22419608 2012
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.300 Biomarker disease CLINGEN Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. 28371260 2017
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.300 Biomarker disease CLINGEN
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		0.300 Biomarker disease CLINGEN
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.300 Biomarker disease CLINGEN
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		0.300 Biomarker disease CLINGEN
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3 		0.010 GeneticVariation disease BEFREE The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair. 25137548 2014
Entrez Id: 22808
Gene Symbol: MRAS
MRAS 		0.300 Biomarker disease CLINGEN
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		0.300 Biomarker disease CLINGEN
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 GermlineCausalMutation disease ORPHANET Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 GermlineCausalMutation disease ORPHANET A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 GermlineCausalMutation disease ORPHANET The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. 16630891 2006
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 GeneticVariation disease BEFREE Noonan-like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability. 30240112 2018
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN De novo mutations in moderate or severe intellectual disability. 25356899 2014
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth. 24211266 2013
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385 2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.510 Biomarker disease CLINGEN Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.300 Biomarker disease CLINGEN