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: 100128998
Gene Symbol: C20orf181
C20orf181 		chromosome 20 open reading frame 181 0.479 0.885
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 102724023
Gene Symbol: GATD3B
GATD3B 		glutamine amidotransferase like class 1 domain containing 3B 0.636 0.577
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 80316
Gene Symbol: PPP1R2C
PPP1R2C 		PPP1R2C family member C 0.478 0.846
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2160
Gene Symbol: F11
F11 		coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19 		cytochrome P450 family 2 subfamily C member 19 0.467 0.846 6.5E-20
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2020 2020
Entrez Id: 1950
Gene Symbol: EGF
EGF 		epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.020 None 1.000 2 0 2018 2019
Entrez Id: 23569
Gene Symbol: PADI4
PADI4 		peptidyl arginine deiminase 4 0.494 0.808 4.6E-16
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3929
Gene Symbol: LBP
LBP 		lipopolysaccharide binding protein 0.525 0.808 4.2E-15
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13 		ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2 		solute carrier family 5 member 2 0.499 0.769 4.9E-14
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.100 None 0.933 15 0 2017 2020
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2 		nuclear receptor subfamily 1 group I member 2 0.418 0.846 7.3E-09
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1803
Gene Symbol: DPP4
DPP4 		dipeptidyl peptidase 4 0.420 0.808 7.3E-09
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.040 None 1.000 4 0 2017 2019
Entrez Id: 83854
Gene Symbol: ANGPTL6
ANGPTL6 		angiopoietin like 6 0.656 0.462 2.4E-08
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1 		decaprenyl diphosphate synthase subunit 1 0.628 0.615 3.2E-08
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1 		glutaminyl-tRNA amidotransferase subunit QRSL1 0.563 0.731 4.9E-08
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9518
Gene Symbol: GDF15
GDF15 		growth differentiation factor 15 0.429 0.808 3.0E-07
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5799
Gene Symbol: PTPRN2
PTPRN2 		protein tyrosine phosphatase receptor type N2 0.678 0.577 5.4E-07
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6696
Gene Symbol: SPP1
SPP1 		secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.020 None 0.500 2 0 2005 2018
Entrez Id: 55065
Gene Symbol: SLC52A1
SLC52A1 		solute carrier family 52 member 1 0.526 0.769 3.5E-06
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2016 2016
Entrez Id: 947
Gene Symbol: CD34
CD34 		CD34 molecule 0.368 0.808 5.0E-06
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5967
Gene Symbol: REG1A
REG1A 		regenerating family member 1 alpha 0.467 0.846 1.3E-05
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5067
Gene Symbol: CNTN3
CNTN3 		contactin 3 0.612 0.654 2.0E-05
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype 0.010 None 1.000 1 0 2017 2017