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: 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: 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: 5621
Gene Symbol: PRNP
PRNP 		F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.010 None 1.000 1 0 1989 1989
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		O00255 menin 1 364 0.444 0.808 1.00 0.060 None 1.000 6 0 1995 2019
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B 		O00300 TNF receptor superfamily member 11b 443 0.422 0.808 0.16 0.010 None 1.000 1 0 2005 2005
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		O00400 solute carrier family 33 member 1 Transporter 170 0.529 0.769 9.9E-05 0.010 None < 0.001 1 0 1994 1994
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		O00755 Wnt family member 7A Signaling 182 0.531 0.692 3.6E-02 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		O14521 succinate dehydrogenase complex subunit D Transporter 348 0.472 0.885 0.34 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4706
Gene Symbol: NDUFAB1
NDUFAB1 		O14561 NADH:ubiquinone oxidoreductase subunit AB1 Transporter 45 0.656 0.692 0.53 0.010 None 1.000 1 0 1985 1985
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		O14653 golgi SNAP receptor complex member 2 Transporter 55 0.653 0.423 4.7E-07 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		O14656 torsin family 1 member A Chaperone 115 0.566 0.731 5.1E-04 0.010 None 1.000 1 0 2017 2017