Source: CURATED

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: 1584
Gene Symbol: CYP11B1
CYP11B1
cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency
disease 0.400 None 1.000 0 0 1991 2019
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.582 0.731 1.00
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
phenotype 0.310 None 1.000 1 0 2007 2012
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
high mobility group AT-hook 2 0.429 0.808 0.87
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
phenotype 0.340 None 1.000 1 0 2009 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome
disease 0.300 None 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome
disease 0.300 None 0 0
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
SIN3 transcription regulator family member A 0.551 0.692 1.00
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion
disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome
disease 0.300 None 0 0
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
17-Hydroxysteroid Dehydrogenase Deficiency
disease 0.790 strong 1.000 7 17 1994 2018
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy
phenotype 0.300 None 1.000 12 0 2004 2010
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
phenotype 0.300 None 1.000 2 0 2011 2011
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C4707828
Disease: 1p31p32 microdeletion syndrome
1p31p32 microdeletion syndrome
disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
NAD kinase 2, mitochondrial 0.691 0.346 6.5E-02
2,4-Dienoyl-CoA Reductase Deficiency
disease 0.600 moderate 1.000 5 0 2012 2018
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
2,4-Dienoyl-CoA Reductase Deficiency
disease 0.500 limited 1.000 2 0 2014 2015
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
disease 0.800 None 1.000 1 0 1985 2012
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 6 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 17 10 1999 2019
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
2-Methylbutyryl-CoA Dehydrogenase Deficiency
disease 0.700 definitive 1.000 8 4 2000 2016
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
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
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
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
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
2-oxo-hept-3-ene-1,7-dioate hydratase activity
phenotype 0.300 None 1.000 1 0 2018 2018