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: 119559
Gene Symbol: SFXN4
SFXN4 		sideroflexin 4 0.890 0.192 1.2E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10126
Gene Symbol: DNAL4
DNAL4 		dynein axonemal light chain 4 0.780 0.231 2.8E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 8309
Gene Symbol: ACOX2
ACOX2 		acyl-CoA oxidase 2 0.769 0.423 2.2E-10
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 85465
Gene Symbol: SELENOI
SELENOI 		selenoprotein I 0.769 0.385 0.64
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2 		tRNA 0.760 0.385
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 51663
Gene Symbol: ZFR
ZFR 		zinc finger RNA binding protein 0.729 0.346 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 6307
Gene Symbol: MSMO1
MSMO1 		methylsterol monooxygenase 1 0.729 0.385 9.0E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3 		solute carrier family 35 member A3 0.716 0.308 2.6E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3 		bromodomain and WD repeat domain containing 3 0.716 0.538 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 6884
Gene Symbol: TAF13
TAF13 		TATA-box binding protein associated factor 13 0.716 0.385 1.6E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 23001
Gene Symbol: WDFY3
WDFY3 		WD repeat and FYVE domain containing 3 0.711 0.423 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 23404
Gene Symbol: EXOSC2
EXOSC2 		exosome component 2 0.711 0.462 2.9E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3 		potassium voltage-gated channel subfamily C member 3 0.705 0.462 0.21
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 56521
Gene Symbol: DNAJC12
DNAJC12 		DnaJ heat shock protein family (Hsp40) member C12 0.705 0.423 2.1E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 84572
Gene Symbol: GNPTG
GNPTG 		N-acetylglucosamine-1-phosphate transferase subunit gamma 0.705 0.423 4.6E-09
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C 		kinesin family member 1C 0.700 0.500 0.72
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 6228
Gene Symbol: RPS23
RPS23 		ribosomal protein S23 0.700 0.500 0.86
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS 		aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1 		lines homolog 1 0.691 0.231 2.4E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 0