Source: GENOMICS_ENGLAND

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: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 79572
Gene Symbol: ATP13A3
ATP13A3 		ATPase 13A3 0.890 0.077 1.00
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		bone morphogenetic protein receptor type 2 0.538 0.654 1.00
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 64321
Gene Symbol: SOX17
SOX17 		SRY-box transcription factor 17 0.555 0.615 0.88
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4 		eukaryotic translation initiation factor 2 alpha kinase 4 0.603 0.577 1.2E-15
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9 		SMAD family member 9 0.666 0.308 6.4E-05
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 None 1.000 1 0 2015 2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 4086
Gene Symbol: SMAD1
SMAD1 		SMAD family member 1 0.533 0.731 0.99
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3 		potassium two pore domain channel subfamily K member 3 0.584 0.654 0.90
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 358
Gene Symbol: AQP1
AQP1 		aquaporin 1 (Colton blood group) 0.467 0.885 2.6E-07
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 2658
Gene Symbol: GDF2
GDF2 		growth differentiation factor 2 0.529 0.731 2.5E-03
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 9496
Gene Symbol: TBX4
TBX4 		T-box transcription factor 4 0.576 0.731 0.50
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2016 2016