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: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.110 None 1.000 1 0 2007 2007
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 0.565 0.692 2.4E-13
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 595
Gene Symbol: CCND1
CCND1
cyclin D1 0.344 0.923 0.89
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
transmembrane immune signaling adaptor TYROBP 0.573 0.769 0.20
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 7390
Gene Symbol: UROS
UROS
uroporphyrinogen III synthase 0.678 0.462 3.2E-02
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
valosin containing protein 0.469 0.923 1.00
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CST telomere replication complex component 1 0.601 0.538 1.6E-11
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A
TNF receptor superfamily member 11a 0.480 0.846 8.8E-03
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
solute carrier family 7 member 7 0.603 0.654 8.0E-07
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.631 0.615 2.3E-02
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 1
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 189
Gene Symbol: AGXT
AGXT
alanine--glyoxylate and serine--pyruvate aminotransferase 0.593 0.731 1.2E-07
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype 0.100 None 0 0