Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. 28074573

2018

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. 28922694

2018

Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
1.000 Biomarker CLINGEN Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel. 28081373

2017

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
1.000 Biomarker CLINGEN Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice. 28445472

2017

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker CLINGEN A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. 25771438

2017

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 Biomarker CLINGEN A subcellular map of the human proteome. 28495876

2017

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker CLINGEN Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. 27246110

2017

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 Biomarker CLINGEN Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. 28207863

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker CLINGEN Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. 27493206

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker CLINGEN The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. 28649662

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 Biomarker CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444

2017

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 27174604

2017

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 26952712

2017

Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
1.000 Biomarker CLINGEN Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. 27523285

2017

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
1.000 Biomarker CLINGEN The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy. 26888048

2017

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
1.000 Biomarker CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
1.000 Biomarker CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889

2017

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
1.000 Biomarker CLINGEN Over-expression of myosin7A in cochlear hair cells of circling mice. 28400833

2017

Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III
1.000 Biomarker CLINGEN A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. 27110679

2017

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
1.000 Biomarker CLINGEN A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. 27988446

2017

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 26817465

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker CLINGEN LKB1 is a DNA damage response protein that regulates cellular sensitivity to PARP inhibitors. 27705915

2016

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker CLINGEN Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice. 27425891

2016