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: 2464
Gene Symbol: FRA16E
FRA16E 		fragile site, distamycin A type, rare, fra(16)(p12.1) 0.931 0.077
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 286262
Gene Symbol: TPRN
TPRN 		taperin 0.839 0.115 7.2E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 119559
Gene Symbol: SFXN4
SFXN4 		sideroflexin 4 0.890 0.192 1.2E-07
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55084
Gene Symbol: SOBP
SOBP 		sine oculis binding protein homolog 0.839 0.192 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 0 0 2019 2019
Entrez Id: 124512
Gene Symbol: METTL23
METTL23 		methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1 		lines homolog 1 0.691 0.231 2.4E-07
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 51244
Gene Symbol: CCDC174
CCDC174 		coiled-coil domain containing 174 0.769 0.269 7.1E-08
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1 		tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 84340
Gene Symbol: GFM2
GFM2 		G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 85021
Gene Symbol: REPS1
REPS1 		RALBP1 associated Eps domain containing 1 0.769 0.269 0.99
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 9853
Gene Symbol: RUSC2
RUSC2 		RUN and SH3 domain containing 2 0.729 0.269 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 10681
Gene Symbol: GNB5
GNB5 		G protein subunit beta 5 0.736 0.308 6.4E-08
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		acyl-CoA synthetase family member 3 0.743 0.308 2.3E-26
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 26100
Gene Symbol: WIPI2
WIPI2 		WD repeat domain, phosphoinositide interacting 2 0.736 0.308 6.4E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23 		TBC1 domain family member 23 0.729 0.308 1.8E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0