×
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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