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: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 0 0 2008 2014
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 0 0 2000 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 0 0 2011 2016
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2017 2017
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.140 None 1.000 0 0 2018 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2353
Gene Symbol: FOS
FOS
Fos proto-oncogene, AP-1 transcription factor subunit 0.411 0.885 0.26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 0.963 6 1 2000 2020
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 0 0 1996 1998
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 1.000 2 1 2007 2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 2006 2006
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None 1.000 0 0 1995 1995
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 0 0 2001 2004
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.150 None 1.000 0 0 2004 2015