Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		1.000 GeneticVariation UNIPROT We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing. 28370826

2017
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		1.000 GeneticVariation UNIPROT These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency. 28841266

2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		1.000 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		1.000 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873

2017
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		1.000 GeneticVariation UNIPROT Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed. 28244183

2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		1.000 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		1.000 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744

2017
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome. 26891472

2017
Entrez Id: 129563
Gene Symbol: DIS3L2
DIS3L2
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		1.000 GeneticVariation UNIPROT Further studies of Perlman syndrome patients with proven DIS3L2 mutations are needed to clarify genotype-phenotype correlation. 28328139

2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		1.000 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		1.000 GeneticVariation UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624

2017
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 GeneticVariation UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488

2017
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		1.000 GeneticVariation UNIPROT Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function. 28137957

2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		1.000 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		1.000 GeneticVariation UNIPROT EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. 28236341

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		1.000 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		1.000 GeneticVariation UNIPROT Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation UNIPROT Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A). 26415523

2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 GeneticVariation UNIPROT p.A143T patients suffering from stroke/ transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD. 27142856

2016
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 GeneticVariation UNIPROT Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs). 27812135

2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation UNIPROT In the current study, we investigated the mechanism responsible for the gating defects manifested in R117H-CFTR, an arginine-to-histidine substitution at position 117 of CFTR that is associated with mild forms of CF. 26846474

2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation UNIPROT Rattlesnake Phospholipase A2 Increases CFTR-Chloride Channel Current and Corrects ∆F508CFTR Dysfunction: Impact in Cystic Fibrosis. 27241308

2016
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Factor VIII Antigen, Activity, and Mutations in Hemophilia A. 25550078

2016