Source: CLINVAR

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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