Source: HPO

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: 5718
Gene Symbol: PSMD12
PSMD12 		proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L 		REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6095
Gene Symbol: RORA
RORA 		RAR related orphan receptor A 0.533 0.808 0.40
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
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 0
Entrez Id: 6228
Gene Symbol: RPS23
RPS23 		ribosomal protein S23 0.700 0.500 0.86
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1 		CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1854301
Disease: Motor delay
Motor delay 		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: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1 		SCY1 like pseudokinase 1 0.582 0.769 2.5E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		protocadherin 19 0.599 0.462 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX 		periaxin 0.650 0.577 2.1E-14
CUI: C1854301
Disease: Motor delay
Motor delay 		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: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6301
Gene Symbol: SARS1
SARS1 		seryl-tRNA synthetase 1 0.558 0.769 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		ataxin 7 0.581 0.654 0.96
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3 		solute carrier family 1 member 3 0.573 0.577 0.99
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0