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: 124512
Gene Symbol: METTL23
METTL23 		methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L 		ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1 		lines homolog 1 0.691 0.231 2.4E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1 		solute carrier family 45 member 1 0.674 0.269 2.5E-05
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14 		ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4 		chromosome 12 open reading frame 4 0.691 0.308 1.1E-05
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 79882
Gene Symbol: ZC3H14
ZC3H14 		zinc finger CCCH-type containing 14 0.691 0.308 0.88
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 80153
Gene Symbol: EDC3
EDC3 		enhancer of mRNA decapping 3 0.682 0.308 2.6E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 112812
Gene Symbol: FDX2
FDX2 		ferredoxin 2 0.780 0.346 1.7E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23325
Gene Symbol: WASHC4
WASHC4 		WASH complex subunit 4 0.686 0.346 2.8E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4632
Gene Symbol: MYL1
MYL1 		myosin light chain 1 0.839 0.346 1.3E-04
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 5279
Gene Symbol: PIGC
PIGC 		phosphatidylinositol glycan anchor biosynthesis class C 0.691 0.346 5.5E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH 		AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 64837
Gene Symbol: KLC2
KLC2 		kinesin light chain 2 0.736 0.346 0.98
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG 		striated muscle enriched protein kinase 0.686 0.385 0.92
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 1187
Gene Symbol: CLCNKA
CLCNKA 		chloride voltage-gated channel Ka 0.711 0.385 4.2E-17
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40 		kelch like family member 40 0.722 0.385 3.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 1781
Gene Symbol: DYNC1I2
DYNC1I2 		dynein cytoplasmic 1 intermediate chain 2 0.760 0.385 1.1E-08
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		tubulin beta 2B class IIb 0.610 0.385 0.99
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13 		kelch repeat and BTB domain containing 13 0.729 0.385 2.3E-10
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		SH3 domain and tetratricopeptide repeats 2 0.666 0.385 8.3E-16
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L 		lectin, mannose binding 2 like 0.641 0.385 2.0E-11
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1 		ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0