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: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2
trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
solute carrier family 10 member 7 0.711 0.269 2.0E-05
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1
ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 10940
Gene Symbol: POP1
POP1
POP1 homolog, ribonuclease P/MRP subunit 0.743 0.346 2.8E-13
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
POC1 centriolar protein A 0.650 0.500 3.3E-06
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS
N-acetylneuraminate synthase 0.545 0.692
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 3549
Gene Symbol: IHH
IHH
Indian hedgehog signaling molecule 0.573 0.538 0.31
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 65992
Gene Symbol: DDRGK1
DDRGK1
DDRGK domain containing 1 0.736 0.269 3.1E-07
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
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: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype 0.100 None 0 0