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PHEX

From SNPedia
is agene
is mentioned by
ClinVarPHEX
GeneCardsPHEX
DiseasesPHEX
wikipediaPHEX
googlePHEX
gopubmedPHEX
EVSPHEX
HEFalMpPHEX
MyGene2PHEX
23andMePHEX
# SNPs144
 Max MagnitudeChromosome positionSummary
rs1057517787022,076,464
rs1057517788022,076,475
rs1057517789022,077,539
rs1057517790022,077,542
rs1057517791022,096,988
rs1057517792022,099,118
rs1057517793022,114,464
rs1057517794022,178,272
rs1057517795022,219,050
rs1057517796022,219,105
rs1057517797022,227,616
rs1057517798022,247,862
rs1057517799022,247,940
rs1057517800022,247,947
rs1057517896022,111,562
rs1057517904022,133,533
rs1057517979022,219,062
rs1057517980022,219,071
rs1057517981022,247,901
rs1057518214022,178,382
rs1057518246022,227,573
rs1057518348022,077,704
rs1057518377022,178,378
rs1057518596022,227,612
rs1057518896022,247,873
rs1057520582022,212,959
rs1057520756022,219,052
rs1057521143022,077,604
rs1057521144022,094,100
rs1057521800022,219,074
rs1057524608022,219,108
rs1064793227022,111,561
rs1064793228022,168,390
rs1064793229022,245,400
rs1064793461022,178,315
rs1064793526022,038,502
rs1064793847022,114,486
rs1064793918022,219,105
rs1064793956022,090,447
rs1064794150022,247,900
rs1064794303022,038,501
rs1064794305022,219,100
rs1064794306022,212,916
rs1064794849022,227,602
rs1064794999022,245,339
rs1064795106022,219,049
rs1064795147022,227,506
rs1064795949022,047,194
rs1064796391022,094,011
rs1064796434022,245,411
... further results

The PHEX gene, located on the X chromosome, provides instructions for making an enzyme that is active primarily in bones and teeth.

More than 200 mutations in the PHEX gene have been found to cause the most common form of hereditary hypophosphatemic rickets, which is known as X-linked hypophosphatemic rickets or familial X-linked hypophosphatemic vitamin D refractory rickets.GHR

X-linked hypophosphatemia (XLH), also known as X-linked hypophosphatemic rickets is the most common form of rickets that runs in families, inherited in an (X-linked) dominant manner. It affects about 1 in 20,000 newborns. Each of the other forms of hereditary hypophosphatemic rickets (X linked recessive and autosomal dominant as well as autosomal recessive) has been identified in only a few families.GHR