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: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 8
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 6884
Gene Symbol: TAF13
TAF13
TATA-box binding protein associated factor 13 0.716 0.385 1.6E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 4
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1
AQP4 antisense RNA 1 0.751 0.577
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM
hepatic and glial cell adhesion molecule 0.621 0.500 0.87
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1