Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA 		fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.030 None 1.000 3 0 1991 1999
Entrez Id: 6060
Gene Symbol: RNU1-4
RNU1-4 		RNA, U1 small nuclear 4 56 0.626 0.577 0.030 None 1.000 3 0 1997 2018
Entrez Id: 692236
Gene Symbol: SNORD116@
SNORD116@ 		small nucleolar RNA, C/D box 116 cluster 33 0.705 0.692 0.030 None 1.000 3 0 2016 2019
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1 		FMR1 intronic transcript 1 29 0.716 0.385 0.020 None 1.000 2 0 1991 1993
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS 		Potocki-Lupski syndrome 17 0.780 0.308 0.010 None 1.000 1 0 2012 2012
Entrez Id: 101054525
Gene Symbol: PGR-AS1
PGR-AS1 		PGR antisense RNA 1 172 0.514 0.808 0.010 None < 0.001 1 0 1994 1994
Entrez Id: 10934
Gene Symbol: MORF4
MORF4 		mortality factor 4 (pseudogene) 25 0.705 0.423 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 159 0.534 0.731 0.010 None 1.000 1 0 2001 2001
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1714
Gene Symbol: DGCR
DGCR 		DiGeorge syndrome chromosome region 38 0.678 0.538 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1913
Gene Symbol: EEC1
EEC1 		ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 26 0.691 0.538 0.010 None 1.000 1 0 2004 2004
Entrez Id: 192142
Gene Symbol: RLS1
RLS1 		Restless legs syndrome, susceptibility to 37 0.705 0.423 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 407050
Gene Symbol: MIR93
MIR93 		microRNA 93 171 0.507 0.808 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4509
Gene Symbol: ATP8
ATP8 		P03928 ATP synthase F0 subunit 8 Transporter 43 0.666 0.615 0.010 None 1.000 1 0 2016 2016
Entrez Id: 60502
Gene Symbol: CPAT1
CPAT1 		cerebral palsy, ataxic 1 34 0.674 0.654 0.010 None 1.000 1 0 1985 1985
Entrez Id: 693182
Gene Symbol: MIR597
MIR597 		microRNA 597 16 0.751 0.346 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8378
Gene Symbol: LOH19CR1
LOH19CR1 		loss of heterozygosity, 19, chromosomal region 1 96 0.569 0.808 0.010 None < 0.001 1 0 2002 2002
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.020 None 0.500 2 0 1994 1997
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.010 None 1.000 1 0 2008 2008
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.010 None 1.000 1 0 2020 2020
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2 		Q9NX02 NLR family pyrin domain containing 2 155 0.515 0.731 1.4E-38 0.010 None 1.000 1 0 2002 2002