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: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 1.000 1 2 2015 2015
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 8726
Gene Symbol: EED
EED 		embryonic ectoderm development 0.588 0.615 1.00
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		T-box transcription factor 2 0.544 0.769 0.99
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental 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: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 91949
Gene Symbol: COG7
COG7 		component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 2