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: 1184
Gene Symbol: CLCN5
CLCN5 		chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		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: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 7421
Gene Symbol: VDR
VDR 		vitamin D receptor 0.352 0.885 1.7E-05
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 92344
Gene Symbol: GORAB
GORAB 		golgin, RAB6 interacting 0.647 0.538 6.7E-06
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		pericentrin 0.564 0.808 4.0E-58
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 3977
Gene Symbol: LIFR
LIFR 		LIF receptor subunit alpha 0.523 0.808 1.5E-13
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1 		cytochrome P450 family 2 subfamily R member 1 0.563 0.731 3.8E-10
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		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: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3 		solute carrier family 34 member 3 0.695 0.308 5.9E-14
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1 		cytochrome P450 family 27 subfamily B member 1 0.502 0.769 1.9E-07
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 1758
Gene Symbol: DMP1
DMP1 		dentin matrix acidic phosphoprotein 1 0.556 0.615 1.5E-07
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		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: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		SET binding protein 1 0.503 0.808 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0