Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation disease UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668 2019
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation disease BEFREE This result expands the clinical spectrum of NSLH2 and strengthens the association between the PPP1CB gene and epileptic seizures. 30236064 2018
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation disease UNIPROT The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 Biomarker disease GENOMICS_ENGLAND The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation disease UNIPROT Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation disease UNIPROT A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 GeneticVariation disease UNIPROT De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385 2016
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 Biomarker disease GENOMICS_ENGLAND De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385 2016
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 Biomarker disease GENOMICS_ENGLAND A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C4479577
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.610 CausalMutation disease CLINVAR
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		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
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 GermlineCausalMutation disease ORPHANET Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker disease CLINGEN The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 GermlineCausalMutation disease ORPHANET The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker disease CLINGEN Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		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
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		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
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker disease CLINGEN De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385 2016
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker disease CLINGEN De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker disease CLINGEN An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth. 24211266 2013
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.350 GeneticVariation disease BEFREE We identified eight LZTR1 variants, including a de novo variant, in seven probands who were suspicious for NS and one known de novo PPP1CB variant in a patient with NS. 30368668 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.350 GeneticVariation disease BEFREE MRAS, SHOC2, and PPP1CB are mutated in Noonan syndrome, and we show that syndromic mutations invariably promote complex formation with each other, but not necessarily with other interactors. 30348783 2018
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.350 Biomarker 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