Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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