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: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 4 1 2011 2016
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
zinc finger protein 711 0.691 0.423 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 2 1 2009 2017
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26960
Gene Symbol: NBEA
NBEA
neurobeachin 0.760 0.538 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
IQ motif and Sec7 domain ArfGEF 2 0.573 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 5746
Gene Symbol: PTH2R
PTH2R
parathyroid hormone 2 receptor 0.780 0.308 1.4E-20
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 2
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 2
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
structural maintenance of chromosomes 3 0.535 0.846 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 4
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1