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: 80152
Gene Symbol: CENPT
CENPT
centromere protein T 0.821 0.231 5.8E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
ETHE1 persulfide dioxygenase 0.686 0.346 4.6E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 2 2009 2009
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 8 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 3
Entrez Id: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
glutamate ionotropic receptor AMPA type subunit 3 0.566 0.692 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 2 2 2004 2008
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
muscle associated receptor tyrosine kinase 0.570 0.769 4.2E-08
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2