Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
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: 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: 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: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
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: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
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: 84529
Gene Symbol: C15orf41
C15orf41
CUI: C3810185
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		0.600 GeneticVariation UNIPROT Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 31191338

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: 341208
Gene Symbol: HEPHL1
HEPHL1
CUI: C1849811
Disease: Pili torti developmental delay neurological abnormalities
Pili torti developmental delay neurological abnormalities 		0.300 GeneticVariation UNIPROT Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 31125343

2019
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
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: 2539
Gene Symbol: G6PD
G6PD
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
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: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.600 GeneticVariation UNIPROT Variants in DOCK3 cause developmental delay and hypotonia. 30976111

2019
Entrez Id: 197257
Gene Symbol: LDHD
LDHD
CUI: C1855552
Disease: Lactic Aciduria due to D-Lactic Acid
Lactic Aciduria due to D-Lactic Acid 		0.400 GeneticVariation UNIPROT Identification of human D lactate dehydrogenase deficiency. 30931947

2019
Entrez Id: 23279
Gene Symbol: NUP160
NUP160
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19 		0.500 GeneticVariation UNIPROT Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome. 30910934

2019
Entrez Id: 340061
Gene Symbol: STING1
STING1
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
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: 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: 55503
Gene Symbol: TRPV6
TRPV6
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		0.610 GeneticVariation UNIPROT We present a case of TNHP caused by <i>TRPV6</i> gene mutations. 30820485

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: 341640
Gene Symbol: FREM2
FREM2
CUI: C1852453
Disease: Cryptophthalmos, Unilateral or Bilateral, Isolated
Cryptophthalmos, Unilateral or Bilateral, Isolated 		0.600 GeneticVariation UNIPROT Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 30802441

2019
Entrez Id: 166929
Gene Symbol: SGMS2
SGMS2
CUI: C1852022
Disease: Doughnut Lesions of Skull, Familial
Doughnut Lesions of Skull, Familial 		0.400 GeneticVariation UNIPROT Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 30779713

2019
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.610 GeneticVariation UNIPROT Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. 30728324

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: 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: 2050
Gene Symbol: EPHB4
EPHB4
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		0.610 GeneticVariation UNIPROT Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. 30578106

2019
Entrez Id: 55331
Gene Symbol: ACER3
ACER3
CUI: C4540358
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 		0.600 GeneticVariation UNIPROT Structure of a human intramembrane ceramidase explains enzymatic dysfunction found in leukodystrophy. 30575723

2018