Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.100 Biomarker disease HPO
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.100 Biomarker disease HPO
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 Biomarker disease HPO
Entrez Id: 5813
Gene Symbol: PURA
PURA 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.100 Biomarker disease HPO
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.010 Biomarker disease BEFREE This ProSAP2/Shank3 haploinsufficiency may cause a syndrome that is characterized by severe expressive language delay, mild mental retardation and minor facial dysmorphisms. 12065602 2002