Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly
0.100 CausalMutation CLINVAR

Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
0.100 CausalMutation CLINVAR Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 28559208

2017

Entrez Id: 23498
Gene Symbol: HAAO
HAAO
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 GeneticVariation CLINVAR

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. 17509588

2008

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. 23295294

2012

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 8550739

1996

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? 24025597

2013

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. 22212252

2011

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. 21214500

2011

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. 10599740

1999

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 CausalMutation CLINVAR 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. 19498320

2009

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 GeneticVariation CLINVAR

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017

Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR

Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.100 CausalMutation CLINVAR