×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
GeneticVariation
phenotype
BEFREE
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
29282707
2018
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
Biomarker
phenotype
BEFREE
Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1 ) is characterized by delayed closure of the fontanels, digital clubbing , arthropathy and periostosis.
24816859
2014
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
GeneticVariation
phenotype
BEFREE
But in humans, HPGD and SLCO2A1 mutations have only been associated with familial digital clubbing .
24838973
2014
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
GeneticVariation
phenotype
BEFREE
Review of HPGD -mutated patients outlined all patients manifested digital clubbing , periostosis and acro-osteolysis.
20406614
2010
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
GeneticVariation
phenotype
BEFREE
Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing , pachydermia, and periostosis.
19306095
2009
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
GeneticVariation
phenotype
BEFREE
No HPGD mutation was detected in a familial case of autosomal dominant isolated digital clubbing .
19568269
2009
×
Entrez Id:
3248
Gene Symbol:
HPGD
HPGD
0.160
Biomarker
phenotype
HPO
×
Entrez Id:
6578
Gene Symbol:
SLCO2A1
SLCO2A1
0.120
GeneticVariation
phenotype
BEFREE
Whole-exome sequencing identified a heterozygous nonsense mutation (G104X ) in the SLCO2A1 gene segregating in 3 males with digital clubbing .
24838973
2014
×
Entrez Id:
6578
Gene Symbol:
SLCO2A1
SLCO2A1
0.120
GeneticVariation
phenotype
BEFREE
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing .
22331663
2012
×
Entrez Id:
6578
Gene Symbol:
SLCO2A1
SLCO2A1
0.120
Biomarker
phenotype
HPO
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
0.110
Biomarker
phenotype
BEFREE
The CFTR dysfunction group had more lower respiratory tract infections (p = 0.01), more isolation of CF pathogens (p<0.001) and clubbing (p = 0.001) than the CF unlikely group, but less frequent respiratory tract infections with CF pathogens than the CF-PS group (p = 0.05).
19318346
2009
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
4141
Gene Symbol:
MARS1
MARS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6340
Gene Symbol:
SCNN1G
SCNN1G
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
94
Gene Symbol:
ACVRL1
ACVRL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2071
Gene Symbol:
ERCC3
ERCC3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2961
Gene Symbol:
GTF2E2
GTF2E2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6337
Gene Symbol:
SCNN1A
SCNN1A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2022
Gene Symbol:
ENG
ENG
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
136647
Gene Symbol:
MPLKIP
MPLKIP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8318
Gene Symbol:
CDC45
CDC45
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6338
Gene Symbol:
SCNN1B
SCNN1B
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2317
Gene Symbol:
FLNB
FLNB
0.100
Biomarker
phenotype
HPO