Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23328
Gene Symbol: SASH1
SASH1
Dyschromatosis Universalis Hereditaria 1
0.700 GeneticVariation UNIPROT Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria. 29956681

2020

Entrez Id: 23438
Gene Symbol: HARS2
HARS2
CUI: C3554105
Disease: PERRAULT SYNDROME 2
PERRAULT SYNDROME 2
0.700 GeneticVariation UNIPROT Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. 31449985

2020

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
1.000 GeneticVariation UNIPROT Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis. 30559189

2019

Entrez Id: 4126
Gene Symbol: MANBA
MANBA
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis
1.000 GeneticVariation UNIPROT The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus. 30552791

2019

Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.930 GeneticVariation UNIPROT Crystal structure of the WD40 domain dimer of LRRK2. 30635421

2019

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
0.910 GeneticVariation UNIPROT Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling. 30481304

2019

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
0.910 GeneticVariation UNIPROT Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants. 29959388

2019

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10
0.910 GeneticVariation UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668

2019

Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973

2019

Entrez Id: 9152
Gene Symbol: SLC6A5
SLC6A5
CUI: C3553288
Disease: HYPEREKPLEXIA 3
HYPEREKPLEXIA 3
0.800 GeneticVariation UNIPROT The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. 31370103

2019

Entrez Id: 341640
Gene Symbol: FREM2
FREM2
CUI: C4540036
Disease: FRASER SYNDROME 2
FRASER SYNDROME 2
0.800 GeneticVariation UNIPROT Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 30802441

2019

Entrez Id: 8260
Gene Symbol: NAA10
NAA10
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome
0.780 GeneticVariation UNIPROT Recently, NAA10 germline variants were found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies. 31174490

2019

Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY
0.760 GeneticVariation UNIPROT The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. 30833296

2019

Entrez Id: 340061
Gene Symbol: STING1
STING1
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
0.740 GeneticVariation UNIPROT Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP. 30842659

2019

Entrez Id: 84334
Gene Symbol: COA8
COA8
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.720 GeneticVariation UNIPROT APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. 30552096

2019

Entrez Id: 6548
Gene Symbol: SLC9A1
SLC9A1
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME
0.720 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019

Entrez Id: 2735
Gene Symbol: GLI1
GLI1
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1
0.700 GeneticVariation UNIPROT A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 30620395

2019

Entrez Id: 5199
Gene Symbol: CFP
CFP
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED
0.700 GeneticVariation UNIPROT Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System. 31507604

2019

Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
0.700 GeneticVariation UNIPROT A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 31071488

2019

Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
0.700 GeneticVariation UNIPROT Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 31192305

2019

Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
0.700 GeneticVariation UNIPROT The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. 31465518

2019

Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
Bone Fragility with Contractures, Arterial Rupture, and Deafness
0.700 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019

Entrez Id: 2539
Gene Symbol: G6PD
G6PD
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.700 GeneticVariation UNIPROT A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant. 30988594

2019

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926

2019

Entrez Id: 10342
Gene Symbol: TFG
TFG
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
0.700 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019