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: 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 0 2016 2016
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 0 2015 2015
Entrez Id: 79598
Gene Symbol: CEP97
CEP97
centrosomal protein 97 2.4E-11
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2016 2016
Entrez Id: 92154
Gene Symbol: MTSS1L
MTSS1L
MTSS1L, I-BAR domain containing 0.99
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 162461
Gene Symbol: TMEM92
TMEM92
transmembrane protein 92 1.000 7.0E-03
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
NECAP endocytosis associated 1 0.886 0.034 9.9E-02
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 790955
Gene Symbol: UQCC3
UQCC3
ubiquinol-cytochrome c reductase complex assembly factor 3 0.834 0.034
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 57325
Gene Symbol: KAT14
KAT14
lysine acetyltransferase 14 1.000 0.069
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2016 2016
Entrez Id: 93654
Gene Symbol: ST7-AS2
ST7-AS2
ST7 antisense RNA 2 1.000 0.069
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
diencephalon/mesencephalon homeobox 1 0.857 0.069 0.94
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2, KICSTOR complex subunit 0.799 0.069 1.1E-15
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.785 0.069 1.9E-11
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 112714
Gene Symbol: TUBA3E
TUBA3E
tubulin alpha 3e 0.928 0.103 2.7E-08
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 118426
Gene Symbol: BORCS5
BORCS5
BLOC-1 related complex subunit 5 0.928 0.103
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.928 0.103
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 9070
Gene Symbol: ASH2L
ASH2L
ASH2 like, histone lysine methyltransferase complex subunit 0.773 0.138 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2016 2016
Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP
ADP ribosylation factor like GTPase 14 effector protein 0.886 0.138 0.41
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 25980
Gene Symbol: AAR2
AAR2
AAR2 splicing factor homolog 0.928 0.138 8.9E-06
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.799 0.138 4.0E-06
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47
transmembrane protein 47 0.834 0.138 0.76
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
GTP binding protein 3, mitochondrial 0.785 0.138 1.3E-08
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 255928
Gene Symbol: SYT14
SYT14
synaptotagmin 14 0.727 0.138 0.96
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 7982
Gene Symbol: ST7
ST7
suppression of tumorigenicity 7 0.762 0.172 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.834 0.172 7.0E-06
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.834 0.172 1.1E-06
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015