Source: INFERRED

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: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2006 2006
Entrez Id: 201595
Gene Symbol: STT3B
STT3B
STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2013 2013
Entrez Id: 2036
Gene Symbol: EPB41L1
EPB41L1
erythrocyte membrane protein band 4.1 like 1 0.839 0.192 0.88
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2011 2011
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2013 2013
Entrez Id: 23636
Gene Symbol: NUP62
NUP62
nucleoporin 62 0.470 0.885 0.95
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2006 2006
Entrez Id: 24137
Gene Symbol: KIF4A
KIF4A
kinesin family member 4A 0.647 0.462 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 limited 1.000 0 0 2014 2014
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.606 0.654 1.1E-23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 limited 1.000 0 0 2016 2016
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
HIVEP zinc finger 2 0.711 0.500 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 limited 1.000 0 0 2015 2019
Entrez Id: 3149
Gene Symbol: HMGB3
HMGB3
high mobility group box 3 0.604 0.615 0.80
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 1971 1971
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
N-deacetylase and N-sulfotransferase 1 0.608 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.610 limited 1.000 0 0 2011 2014
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
STT3 oligosaccharyltransferase complex catalytic subunit A 0.670 0.577 2.0E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2013 2013
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG
miR-17-92a-1 cluster host gene 0.483 0.808
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2015 2015
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
nuclear factor I A 0.599 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 limited 1.000 0 0 2007 2018
Entrez Id: 55131
Gene Symbol: RBM28
RBM28
RNA binding motif protein 28 0.682 0.423 6.2E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2010 2010
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 limited 1.000 0 0 2011 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 0 0
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 limited 1.000 0 0 2015 2019
Entrez Id: 7507
Gene Symbol: XPA
XPA
XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2014 2014
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
tectonic family member 1 0.597 0.615 1.1E-15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2012 2012
Entrez Id: 79882
Gene Symbol: ZC3H14
ZC3H14
zinc finger CCCH-type containing 14 0.691 0.308 0.88
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 limited 1.000 0 0 2011 2019
Entrez Id: 80311
Gene Symbol: KLHL15
KLHL15
kelch like family member 15 0.805 0.192 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2016 2016
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
pseudouridine synthase 1 0.695 0.462 1.7E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 0 0 2009 2009
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
LAS1 like ribosome biogenesis factor 0.682 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 limited 1.000 0 0 2016 2019
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.686 0.385 3.9E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 limited 1.000 0 0 2016 2018
Entrez Id: 100131801
Gene Symbol: PET100
PET100
PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 1.000 0 0 2015 2015