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: 1586
Gene Symbol: CYP17A1
CYP17A1 		cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		disease 0.310 strong 1.000 0 0 1991 1991
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3 		hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		disease 0.790 strong 1.000 0 0 1994 2018
Entrez Id: 133686
Gene Symbol: NADK2
NADK2 		NAD kinase 2, mitochondrial 0.691 0.346 6.5E-02
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease 0.600 moderate 1.000 2 0 2012 2018
Entrez Id: 1666
Gene Symbol: DECR1
DECR1 		2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease 0.500 limited 1.000 1 0 2014 2015
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		disease 0.700 None 1.000 2 0 2012 2016
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10 		hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype 0.750 definitive 1.000 3 0 1999 2019
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		disease 0.700 definitive 1.000 1 0 2000 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		phenotype 0.300 strong 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 1.000 definitive 1.000 1 0 2001 2020
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2 		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.780 None 1.000 0 0 1993 2015
Entrez Id: 549
Gene Symbol: AUH
AUH 		AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		disease 0.750 definitive 1.000 2 0 1982 2017