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: 23259
Gene Symbol: DDHD2
DDHD2
DDHD domain containing 2 0.713 0.448 1.1E-10
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 5 1 2013 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 3 1 2004 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.672 0.345 5.2E-26
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 2 1 2000 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.633 0.586
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 2 4 2015 2015
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
peptidyl-tRNA hydrolase 2 0.659 0.517 7.7E-04
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.565 0.793 1.0E-24
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Meckel syndrome, type 1 0.546 0.690 4.6E-16
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 55066
Gene Symbol: PDPR
PDPR
pyruvate dehydrogenase phosphatase regulatory subunit 1.6E-07
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.546 0.828 0.98
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9, nonsense mediated mRNA decay factor 0.735 0.207 3.0E-12
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 2 2016 2016
Entrez Id: 56947
Gene Symbol: MFF
MFF
mitochondrial fission factor 0.720 0.345 5.5E-02
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.645 0.379 2.5E-09
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 6.2E-04
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2016 2016
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4
gem nuclear organelle associated protein 4 0.633 0.690 5.5E-13
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.621 0.517 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 2 2015 2015
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.685 0.207 0.99
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.616 0.379 6.5E-15
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.857 0.241 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 2 2017 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.645 0.586
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.489 0.655 7.0E-16
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.685 0.379 4.9E-02
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL, cohesin loading factor 0.557 0.690 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23
protein tyrosine phosphatase, non-receptor type 23 0.834 0.207 0.59
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.701 0.310 6.0E-09
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 1 2015 2015
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.727 0.414 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 3 2014 2014