Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 GeneticVariation UNIPROT This study provides a conceptual framework for understanding intravascular lipolysis and GPIHBP1 and LPL mutations causing familial chylomicronemia. 26725083

2016
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		1.000 GeneticVariation UNIPROT Here we applied whole-genome sequencing (WGS) to the DNA of a sporadic FAP patient in which we did not find any pathological APC mutations by direct sequencing. 27217144

2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		1.000 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		1.000 GeneticVariation UNIPROT Consistent with this, many APS1/APECED patients harbored extremely high-affinity, neutralizing autoantibodies, particularly against specific cytokines. 27426947

2016
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 GeneticVariation UNIPROT Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. 26686776

2016
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 GeneticVariation UNIPROT Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. 27196565

2016
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		1.000 GeneticVariation UNIPROT Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. 26945816

2016
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		1.000 GeneticVariation UNIPROT This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. 27411168

2016
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		1.000 GeneticVariation UNIPROT We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. 26781211

2016
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		1.000 GeneticVariation UNIPROT In the present study, we analyzed the CaSR gene in a Korean family with familial hypocalciuric hypercalcemia (FHH). 26386835

2016
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		1.000 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 GeneticVariation UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426

2016
Entrez Id: 8838
Gene Symbol: CCN6
CCN6
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		1.000 GeneticVariation UNIPROT WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 27436824

2016
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation UNIPROT In this study, we investigated the CICR activity of 14 mutations at 10 different positions in the central region of RYR1 (10 MH and four MH/CCD mutations) using a heterologous expression system in HEK293 cells. 27586648

2016
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		1.000 GeneticVariation UNIPROT These results also suggest that altered cytosolic Ca<sup>2+</sup> activation of RyR2 represents a common defect of RyR2 mutations associated with CPVT and AF, which could potentially be suppressed by carvedilol or (R)-carvedilol. 27733687

2016
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		1.000 GeneticVariation UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623

2016
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation UNIPROT Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. 26590955

2016
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		1.000 GeneticVariation UNIPROT Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). 26286922

2016
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		1.000 GeneticVariation UNIPROT Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. 27604643

2016
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
CUI: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2 		1.000 GeneticVariation UNIPROT In most cases SPD is caused by heterozygous mutations in HOXD13 resulting in the expansion of a N-terminal polyalanine tract. 26581570

2016
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		1.000 GeneticVariation UNIPROT Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D. 27475985

2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		1.000 GeneticVariation UNIPROT Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. 27238017

2016
Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		1.000 GeneticVariation UNIPROT To elucidate the mutation spectrum of the HGD gene in patients with alkaptonuria from 42 patients attending the National Alkaptonuria Centre, 14 exons of the HGD gene and the intron-exon boundaries were analysed by PCR-based sequencing. 25681086

2015
Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		1.000 GeneticVariation UNIPROT Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321

2015