Source: INFERRED

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: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.400 None 1.000 0 0 1999 1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 255928
Gene Symbol: SYT14
SYT14
synaptotagmin 14 0.716 0.346 0.94
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.400 limited 1.000 0 0 2007 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.674 0.423 4.5E-11
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.100 None 0 0