Source: HPO

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: 5195
Gene Symbol: PEX14
PEX14 		peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		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: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		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: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		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: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1 		limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH 		phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 54
Gene Symbol: ACP5
ACP5 		acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1 		reticulophagy regulator 1 0.623 0.538 6.4E-06
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		kinesin family member 1A 0.559 0.692 1.00
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM 		dymeclin 0.563 0.769 3.6E-13
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 65125
Gene Symbol: WNK1
WNK1 		WNK lysine deficient protein kinase 1 0.416 0.846 1.00
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 6578
Gene Symbol: SLCO2A1
SLCO2A1 		solute carrier organic anion transporter family member 2A1 0.578 0.654 2.3E-13
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11 		TNF superfamily member 11 0.453 0.846 4.9E-03
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0