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: 100033413
Gene Symbol: SNORD116-1
SNORD116-1
small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 100131801
Gene Symbol: PET100
PET100
PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10087
Gene Symbol: CERT1
CERT1
ceramide transporter 1 0.674 0.500 0.67
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1009
Gene Symbol: CDH11
CDH11
cadherin 11 0.512 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10102
Gene Symbol: TSFM
TSFM
Ts translation elongation factor, mitochondrial 0.736 0.423 1.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
leucine rich pentatricopeptide repeat containing 0.493 0.769 2.3E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31
B cell receptor associated protein 31 0.579 0.808 0.43
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 0 0 2015 2017
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
solute carrier family 25 member 13 0.617 0.500 1.3E-24
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15
solute carrier family 25 member 15 0.711 0.346 3.7E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1020
Gene Symbol: CDK5
CDK5
cyclin dependent kinase 5 0.495 0.846 0.14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 1021
Gene Symbol: CDK6
CDK6
cyclin dependent kinase 6 0.471 0.731 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10225
Gene Symbol: CD96
CD96
CD96 molecule 0.592 0.692 1.4E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10229
Gene Symbol: COQ7
COQ7
coenzyme Q7, hydroxylase 0.736 0.462 3.8E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
gephyrin 0.608 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10274
Gene Symbol: STAG1
STAG1
stromal antigen 1 0.656 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10297
Gene Symbol: APC2
APC2
APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.410 strong 1.000 0 0 2012 2019
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1
katanin regulatory subunit B1 0.674 0.346 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0