Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
1-5 finger complete cutaneous syndactyly
0.100 Biomarker HPO

Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
0.100 Biomarker HPO

Entrez Id: 6469
Gene Symbol: SHH
SHH
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
0.100 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly
0.100 Biomarker HPO

Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 2879
Gene Symbol: GPX4
GPX4
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 2317
Gene Symbol: FLNB
FLNB
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.100 Biomarker HPO

Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
0.460 CausalMutation CLINVAR Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. 12466376

2003

Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
0.460 CausalMutation CLINVAR The existence of true isolated 17,20-lyase deficiency, however, has been questioned because 17 alpha-hydroxylase and 17,20-lyase activities are catalyzed by a single enzyme, microsomal cytochrome P450c17, and because the index case of apparent isolated 17,20-lyase deficiency had combined deficiencies of both activities. 9326943

1997

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.750 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
0.750 CausalMutation CLINVAR The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. 9467575

1998

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.750 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.750 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
0.750 CausalMutation CLINVAR The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza. 2918056

1989

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.750 CausalMutation CLINVAR Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). 9709959

1998

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.750 CausalMutation CLINVAR A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. 8626842

1996

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

2000

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.750 CausalMutation CLINVAR Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. 8075637

1994