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: 10716
Gene Symbol: TBR1
TBR1 		T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 10
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental 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: C2237142
Disease: Moderate global developmental delay
Moderate 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: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 51322
Gene Symbol: WAC
WAC 		WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 3712
Gene Symbol: IVD
IVD 		isovaleryl-CoA dehydrogenase 0.705 0.462 1.5E-14
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20 		zinc finger and BTB domain containing 20 0.566 0.731 0.97
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A 		ubiquitination factor E4A 0.729 0.308 0.11
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 1