Source: ALL

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: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. 1430088

1992

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Mutations in the CYP11B1 gene cause steroid 11 beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia characterized by signs of androgen excess and by hypertension. 7988480

1995

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency. 24536089

2014

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Two mutations in CYP11B1 have previously been reported in patients with 11 beta-hydroxylase deficiency--Arg-448-->His and a 2-bp insertion in codon 394. 8506298

1993

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 Biomarker CTD_human

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE The molecular genetic analysis was performed by direct nucleotide sequencing of the CYP11B1 gene in 15 unrelated Tunisian patients suffering from classical 11β-hydroxylase deficiency. 20331679

2011

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficiency of a family with the R448H mutation in the CYP11B1 gene. 9329393

1997

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. 9302260

1998

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 Biomarker BEFREE Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia. 26066897

2016

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Functional mutation analysis allows the classification of novel CYP11B1 mutations as causes of classical and non-classical 11β-OHD. 24022297

2015

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
0.400 GeneticVariation BEFREE Molecular analysis of CYP11B1 gene in CAH patients with 11β-hydroxylase deficiency was performed in this study. 23345044

2014