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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 3
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 3
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 2
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 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
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease 0.100 None 0 1
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: 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: 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: 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