Abnormality Of Bone Mineral Density Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. (Human Phenotype Ontology, HP_0004348)
External Link https://www.disgenet.org/browser/0/1/0/C4021657
Similar Terms
Downloads & Tools

Genes

22 genes associated with the disease Abnormality Of Bone Mineral Density in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
BMS1 BMS1 ribosome biogenesis factor
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
COL10A1 collagen, type X, alpha 1
CTNND2 catenin (cadherin-associated protein), delta 2
DLL4 delta-like 4 (Drosophila)
IFT54 intraflagellar transport 54
INVS inversin
IQCB1 IQ motif containing B1
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PTPN11 protein tyrosine phosphatase, non-receptor type 11
SDCCAG8 serologically defined colon cancer antigen 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
TCOF1 Treacher Collins-Franceschetti syndrome 1
UFSP2 UFM1-specific peptidase 2
WDR19 WD repeat domain 19