Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		0.410 Biomarker disease CTD_human Thus, Dll3-Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders. 17849441 2007
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		0.410 GeneticVariation disease BEFREE Scoliosis has been observed in a heterozygous DLL3 carrier, raising the possibility of its involvement in congenital scoliosis. 15717203 2005
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		0.410 Biomarker disease HPO
Entrez Id: 28514
Gene Symbol: DLL1
DLL1 		0.400 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024 2019
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		0.400 Biomarker disease GENOMICS_ENGLAND Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307 2016
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		0.400 Biomarker disease HPO
Entrez Id: 28514
Gene Symbol: DLL1
DLL1 		0.400 Biomarker disease HPO
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		0.300 Biomarker disease GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024 2020
Entrez Id: 5081
Gene Symbol: PAX7
PAX7 		0.300 Biomarker disease GENOMICS_ENGLAND Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. 31092906 2019
Entrez Id: 128869
Gene Symbol: PIGU
PIGU 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 31353022 2019
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7 		0.300 Biomarker disease GENOMICS_ENGLAND Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. 29878199 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.300 Biomarker disease CTD_human Thus, Dll3-Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders. 17849441 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.300 Biomarker disease MGD
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.300 Biomarker disease HPO
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		0.200 Biomarker disease RGD Expression of matrix metalloproteinase-1 (MMP-1) in Wistar rat's intervertebral disc after experimentally induced scoliotic deformity. 21554726 2011
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families. 30985235 2019
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE Mutations in the Robo3 protein cause horizontal gaze palsy with progressive scoliosis (HGPPS), a rare disease marked by severe scoliosis. 21216876 2011
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3. 21592015 2011
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations. 21510772 2011
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease LHGDN Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. 18829051 2009
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. 18829051 2009
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. 16772357 2006
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease BEFREE More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population. 16525029 2006
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease LHGDN More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population. 16525029 2006
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3 		0.190 GeneticVariation disease LHGDN Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. 15824346 2005