Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 6909
Gene Symbol: TBX2
TBX2
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 8726
Gene Symbol: EED
EED
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.100 GeneticVariation CLINVAR