Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation UNIPROT [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]. 17081365

2006
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		1.000 GeneticVariation UNIPROT [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients]. 10194254

1999
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation UNIPROT [Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes]. 1470163

1992
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. 16938236

2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. 18341814

2007
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation UNIPROT [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. 10367071

1999
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.950 GeneticVariation UNIPROT [Childhood hypophosphatasia: a case report due to a novel mutation]. 15135428

2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1837845
Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT [Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]. 22795782

2012
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.710 GeneticVariation UNIPROT [Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia]. 15622768

1997
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		1.000 GeneticVariation UNIPROT [A new point mutation on exon 2 of parkin gene in Parkinson's disease]. 12362318

2002
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 GeneticVariation UNIPROT [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. 16638323

2006
Entrez Id: 3853
Gene Symbol: KRT6A
KRT6A
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3 		0.400 GeneticVariation UNIPROT [A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I]. 15387942

2004
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 GeneticVariation UNIPROT [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation]. 8777804

1995
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C4085250
Disease: PAGET DISEASE OF BONE 6
PAGET DISEASE OF BONE 6 		0.400 GeneticVariation UNIPROT ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. 26849110

2016
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
CUI: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		0.600 GeneticVariation UNIPROT ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. 23716654

2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.900 GeneticVariation UNIPROT ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. 29601588

2018
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C3543826
Disease: CILIARY DYSKINESIA, PRIMARY, 19
CILIARY DYSKINESIA, PRIMARY, 19 		0.900 GeneticVariation UNIPROT ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.900 GeneticVariation UNIPROT ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.710 GeneticVariation UNIPROT Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070

2003
Entrez Id: 118813
Gene Symbol: ZFYVE27
ZFYVE27
CUI: C1853251
Disease: Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant 		0.700 GeneticVariation UNIPROT ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. 16826525

2006
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C4551951
Disease: Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 		0.610 GeneticVariation UNIPROT ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 29804830

2018
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 GeneticVariation UNIPROT Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		0.710 GeneticVariation UNIPROT ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227

2015