Source: ORPHANET

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: 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: 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: 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
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease 0.600 moderate 1.000 1 0 2012 2018
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 1 0 2012 2016
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: 650
Gene Symbol: BMP2
BMP2 		bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		disease 0.300 None 1.000 2 0 2009 2011
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		jumonji domain containing 1C 0.517 0.769 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.390 None 1.000 1 0 1997 2012
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.320 None 1.000 1 0 2004 2016
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 1312
Gene Symbol: COMT
COMT 		catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.360 None 1.000 0 0 2001 2011
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		ARVCF delta catenin family member 0.540 0.769 5.0E-11
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.300 None 0 0
Entrez Id: 7353
Gene Symbol: UFD1
UFD1 		ubiquitin recognition factor in ER associated degradation 1 0.537 0.769 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.320 None 1.000 0 0 1999 2001