Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		0.100 Biomarker disease HPO
Entrez Id: 23169
Gene Symbol: SLC35D1
SLC35D1 		0.100 Biomarker disease HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI 		0.100 Biomarker disease HPO
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.110 GeneticVariation disease BEFREE Sixteen features (neonatal hypotonia, neonatal hyporeflexia, neonatal feeding problems, speech/language delay, delayed age at crawling, delayed age at walking, severity of developmental delay, male genital anomalies, dysplastic toenails, large or fleshy hands, macrocephaly, tall stature, facial asymmetry, full brow, atypical reflexes and dolichocephaly) were found to be significantly associated with larger deletion sizes, suggesting the role of additional genes or regulatory regions proximal to SHANK3. 21984749 2011
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.110 Biomarker disease HPO
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		0.100 Biomarker disease HPO
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.100 Biomarker disease HPO
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.100 Biomarker disease HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 Biomarker disease HPO
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3 		0.100 Biomarker disease HPO
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 Biomarker disease HPO
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		0.100 Biomarker disease HPO
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		0.100 Biomarker disease HPO
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B 		0.100 Biomarker disease HPO
Entrez Id: 791114
Gene Symbol: PWRN1
PWRN1 		0.100 Biomarker disease HPO
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 Biomarker disease HPO
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		0.100 Biomarker disease HPO
Entrez Id: 9581
Gene Symbol: PREPL
PREPL 		0.100 Biomarker disease HPO
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5297
Gene Symbol: PI4KA
PI4KA 		0.100 Biomarker disease HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 Biomarker disease HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation disease CLINVAR