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: 284203
Gene Symbol: RNASEH1P1
RNASEH1P1
ribonuclease H1 pseudogene 1
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 342933
Gene Symbol: ZSCAN5B
ZSCAN5B
zinc finger and SCAN domain containing 5B 1.0E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 53371
Gene Symbol: NUP54
NUP54
nucleoporin 54 0.22
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79819
Gene Symbol: WDR78
WDR78
WD repeat domain 78 4.3E-17
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1996 1996
Entrez Id: 94239
Gene Symbol: H2AZ2
H2AZ2
H2A.Z variant histone 2 0.47
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10086
Gene Symbol: HHLA1
HHLA1
HERV-H LTR-associating 1 1.000 0.038 2.9E-14
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 394269
Gene Symbol: BRCA1P1
BRCA1P1
BRCA1 pseudogene 1 0.931 0.077
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 55234
Gene Symbol: SMU1
SMU1
SMU1 DNA replication regulator and spliceosomal factor 1.000 0.077 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 84132
Gene Symbol: USP42
USP42
ubiquitin specific peptidase 42 0.839 0.077 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 100526739
Gene Symbol: CENPS-CORT
CENPS-CORT
CENPS-CORT readthrough 0.861 0.115 5.8E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 55055
Gene Symbol: ZWILCH
ZWILCH
zwilch kinetochore protein 1.000 0.115 1.2E-13
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6799
Gene Symbol: SULT1A2
SULT1A2
sulfotransferase family 1A member 2 0.890 0.115 3.7E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 80820
Gene Symbol: EEPD1
EEPD1
endonuclease/exonuclease/phosphatase family domain containing 1 0.890 0.115 5.5E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10674
Gene Symbol: DURS1
DURS1
Duane retraction syndrome 1 0.839 0.154
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 26166
Gene Symbol: RGS22
RGS22
regulator of G protein signaling 22 0.780 0.154 1.6E-30
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3378
Gene Symbol: IBD2
IBD2
inflammatory bowel disease 2 0.805 0.154
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2012 2012
Entrez Id: 54465
Gene Symbol: ETAA1
ETAA1
ETAA1 activator of ATR kinase 0.861 0.154 7.8E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100653382
Gene Symbol: DEL13Q14
DEL13Q14
Chromosome 13q14 deletion syndrome 0.805 0.192
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 0.750 4 0 2011 2019
Entrez Id: 7974
Gene Symbol: HRX
HRX
Hyperreflexia 0.695 0.192
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 1995 2007
Entrez Id: 10322
Gene Symbol: SMYD5
SMYD5
SMYD family member 5 0.751 0.192 1.3E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 26973
Gene Symbol: CHORDC1
CHORDC1
cysteine and histidine rich domain containing 1 0.792 0.192 0.90
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 378708
Gene Symbol: CENPS
CENPS
centromere protein S 0.805 0.192 5.8E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4066
Gene Symbol: LYL1
LYL1
LYL1 basic helix-loop-helix family member 0.670 0.192 0.77
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2012 2012
Entrez Id: 54799
Gene Symbol: MBTD1
MBTD1
mbt domain containing 1 0.780 0.192 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6222
Gene Symbol: RPS18
RPS18
ribosomal protein S18 0.861 0.192 0.98
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2020 2020