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: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 1.000 2 2 2004 2008
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		tubulin beta 6 class V 0.686 0.462 1.7E-04
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 2
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 3
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 2
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 25839
Gene Symbol: COG4
COG4 		component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		catenin beta 1 0.303 0.885 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 2
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype 0.100 None 0 1