Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.310 GeneticVariation disease BEFREE The neurogenic locus notch homolog protein (Notch)-2 receptor is a determinant of B-cell allocation, and gain-of-NOTCH2-function mutations are associated with Hajdu-Cheney syndrome (HCS), a disease presenting with osteoporosis and acro-osteolysis. 29037852 2018
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.310 Biomarker disease MGD Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. 28592489 2017
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.310 Biomarker disease MGD Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption. 26627824 2016
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.310 Biomarker disease BEFREE However, the patients did not harbor any disease causing variants in LMNA or ZMPSTE24 and showed distinct characteristics such as sensorineural hearing loss and absence of clavicular hypoplasia and acroosteolysis. 20631028 2010
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.310 Biomarker disease CTD_human Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860 2006
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.310 Biomarker disease CTD_human Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070 2003
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.310 Biomarker disease HPO
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.130 GeneticVariation disease BEFREE Our case suggests an expansion of LMNA allelic disorders to include distal acroosteolysis, poikiloderma and joint stiffness (DAPJ). 26733286 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.130 GeneticVariation disease BEFREE However, the patients did not harbor any disease causing variants in LMNA or ZMPSTE24 and showed distinct characteristics such as sensorineural hearing loss and absence of clavicular hypoplasia and acroosteolysis. 20631028 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.130 GeneticVariation disease BEFREE The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. 16278265 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.130 Biomarker disease HPO
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
0.110 GeneticVariation disease 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
0.110 Biomarker disease HPO
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.100 Biomarker disease HPO
Entrez Id: 25923
Gene Symbol: ATL3
ATL3
0.100 Biomarker disease HPO
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
0.100 Biomarker disease HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker disease HPO
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
0.100 Biomarker disease HPO
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
0.100 Biomarker disease HPO
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.100 Biomarker disease HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.100 Biomarker disease HPO
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.100 Biomarker disease HPO
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
0.100 Biomarker disease HPO
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 GeneticVariation disease BEFREE In conclusion, the HCS mutation enhances TNFα-induced osteoclastogenesis and the inflammatory bone-resorptive response possibly explaining the acro-osteolysis observed in affected individuals. 31371452 2019
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.010 Biomarker disease BEFREE So far, three large duplications encompassing several genes including PTHLH associating with enchondromatas and acro-osteolysis have been described in the literature. 26733284 2016