Source: CLINVAR

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: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		AP4B1 antisense RNA 1 0.805 0.231
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 3 1 2011 2012
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 3 1 2011 2012
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 1 3 2016 2016
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1 		mucolipin 1 0.601 0.654 5.8E-04
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 2
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		SIX homeobox 1 0.496 0.692 0.65
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 2
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 55163
Gene Symbol: PNPO
PNPO 		pyridoxamine 5'-phosphate oxidase 0.659 0.500 1.1E-08
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 2
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 1