Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 CausalMutation CLINVAR

Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR

Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR

Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 GeneticVariation CLINVAR Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. 28679688

2017
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GeneticVariation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 CausalMutation CLINVAR New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. 26141459

2016
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 CausalMutation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GeneticVariation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 CausalMutation CLINVAR

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 GeneticVariation CLINVAR

Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 15615815

2005
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 15615815

2005
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 CausalMutation CLINVAR

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.780 CausalMutation CLINVAR

Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.780 GeneticVariation CLINVAR Three novel C-terminal mutants of the HSD3B2 gene are responsible for classical 3beta-HSD deficiency. 18252794

2008
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		0.100 CausalMutation CLINVAR

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		0.100 GeneticVariation CLINVAR