Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. 28377241

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Six hundred Fabry disease-causing mutations were expressed in HEK-293 (HEK) cells; increases in α-galactosidase A activity were measured by a good laboratory practice (GLP)-validated assay (GLP HEK/Migalastat Amenability Assay). 27657681

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. 28302345

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR The GLA IVS4+919G>A which is linked to late-onset Fabry disease shows high frequency in Taiwan. 28377241

2018

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 CausalMutation CLINVAR Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. 27657681

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2018

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2018

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. 28388566

2018

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1.000 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303

2018

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation CLINVAR Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis. 28548960

2018

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
1.000 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924

2018

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation CLINVAR Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. 29449315

2018

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

2018

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 CausalMutation CLINVAR Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. 28102862

2018

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 CausalMutation CLINVAR Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. 28102862

2018

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 CausalMutation CLINVAR A variety of mutations in the androgen receptor (AR) gene are linked to androgen insensitivity syndrome (AIS) or sexual development disorder. 28261839

2018

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
1.000 CausalMutation CLINVAR This study presented a wide range of spectrum of AIS (from partial AIS to complete AIS) caused by AR mutations in South China population. 28261839

2018

Entrez Id: 326
Gene Symbol: AIRE
AIRE
Polyglandular Type I Autoimmune Syndrome
1.000 CausalMutation CLINVAR Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (<i>AIRE)</i> gene. 29437776

2018

Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
1.000 CausalMutation CLINVAR A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. 27243668

2018

Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
1.000 CausalMutation CLINVAR Mutations in the transcription factor interferon regulatory factor 6 gene (IRF6) have been identified in individuals with VWS. 27243668

2018

Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome
1.000 CausalMutation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687

2018

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
1.000 CausalMutation CLINVAR CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. 29255276

2018

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
1.000 CausalMutation CLINVAR CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. 29255276

2018