Source: ALL

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: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 1.000 strong 0.976 83 114 1987 2020
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5 		chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.300 None 0 0
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.100 None 1.000 54 0 1990 2020
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS 		PTCHD1 antisense RNA (head to head) 0.839 0.308
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.100 None 1.000 4 47 1997 2015
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.090 None 0.889 9 1 2008 2020
Entrez Id: 5741
Gene Symbol: PTH
PTH 		parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.040 None 1.000 4 0 1976 2009
Entrez Id: 2688
Gene Symbol: GH1
GH1 		growth hormone 1 0.373 0.923 3.0E-02
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.040 None 1.000 4 0 1997 2019
Entrez Id: 1758
Gene Symbol: DMP1
DMP1 		dentin matrix acidic phosphoprotein 1 0.556 0.615 1.5E-07
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.030 None 1.000 3 0 2015 2020
Entrez Id: 7421
Gene Symbol: VDR
VDR 		vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.030 None 1.000 3 3 2006 2017
Entrez Id: 9771
Gene Symbol: RAPGEF5
RAPGEF5 		Rap guanine nucleotide exchange factor 5 0.524 0.769 0.98
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.020 None 1.000 2 0 2012 2019
Entrez Id: 50964
Gene Symbol: SOST
SOST 		sclerostin 0.474 0.808 0.87
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.020 None 1.000 2 0 2019 2020
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP 		bone gamma-carboxyglutamate protein 0.462 0.846 4.6E-08
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.020 None 1.000 2 0 1983 2019
Entrez Id: 6696
Gene Symbol: SPP1
SPP1 		secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 728378
Gene Symbol: POTEF
POTEF 		POTE ankyrin domain family member F 0.481 0.885 5.5E-06
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 796
Gene Symbol: CALCA
CALCA 		calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12 		C-X-C motif chemokine ligand 12 0.379 0.846 0.12
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6422
Gene Symbol: SFRP1
SFRP1 		secreted frizzled related protein 1 0.479 0.846 0.96
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 6447
Gene Symbol: SCG5
SCG5 		secretogranin V 0.663 0.462 6.3E-05
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6462
Gene Symbol: SHBG
SHBG 		sex hormone binding globulin 0.438 0.808 1.3E-06
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 9368
Gene Symbol: SLC9A3R1
SLC9A3R1 		SLC9A3 regulator 1 0.547 0.577 8.8E-05
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6550
Gene Symbol: SLC9A3
SLC9A3 		solute carrier family 9 member A3 0.612 0.615 0.98
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 799
Gene Symbol: CALCR
CALCR 		calcitonin receptor 0.464 0.846 3.1E-09
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6568
Gene Symbol: SLC17A1
SLC17A1 		solute carrier family 17 member 1 0.760 0.462 4.1E-16
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1 		solute carrier family 34 member 1 0.619 0.423 8.9E-27
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		disease 0.010 None 1.000 1 0 2013 2013