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: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 124454
Gene Symbol: EARS2
EARS2 		glutamyl-tRNA synthetase 2, mitochondrial 0.666 0.538 1.1E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 2
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		proline rich 12 0.716 0.385 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 3
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Ras like without CAAX 1 0.527 0.808 0.13
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 3
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 3
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		cystatin B 0.530 0.692 6.6E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 2
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 1