Source: BEFREE

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1758
Gene Symbol: DMP1
DMP1 		dentin matrix acidic phosphoprotein 1 0.556 0.615 1.5E-07
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.800 None 1.000 14 1 2006 2020
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.370 None 1.000 7 0 2010 2020
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.060 None 1.000 6 0 2009 2019
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.020 None 1.000 2 0 2013 2014
Entrez Id: 5741
Gene Symbol: PTH
PTH 		parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.020 None 1.000 2 0 2010 2019
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.010 None 1.000 1 1 2014 2014
Entrez Id: 50964
Gene Symbol: SOST
SOST 		sclerostin 0.474 0.808 0.87
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3 		polypeptide N-acetylgalactosaminyltransferase 3 0.603 0.769 7.4E-09
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		disease 0.010 None 1.000 1 0 2013 2013