×
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
Scoliosis, unspecified
0.410
Biomarker
CTD_human
Thus, Dll3 -Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders.
17849441 2007
×
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
Scoliosis, unspecified
0.410
GeneticVariation
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
Scoliosis, unspecified
0.410
Biomarker
HPO
×
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
Scoliosis, unspecified
0.400
Biomarker
GENOMICS_ENGLAND
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
31353024 2019
×
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
Scoliosis, unspecified
0.400
Biomarker
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
Scoliosis, unspecified
0.400
Biomarker
HPO
×
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
Scoliosis, unspecified
0.400
Biomarker
HPO
×
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
Scoliosis, unspecified
0.300
Biomarker
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
Scoliosis, unspecified
0.300
Biomarker
GENOMICS_ENGLAND
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
31092906 2019
×
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
Scoliosis, unspecified
0.300
Biomarker
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
Scoliosis, unspecified
0.300
Biomarker
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
Scoliosis, unspecified
0.300
Biomarker
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
Scoliosis, unspecified
0.300
Biomarker
CTD_human
Thus, Dll3-Notch1 double heterozygous mice model human congenital scoliosis and craniofacial disorders.
17849441 2007
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Scoliosis, unspecified
0.300
Biomarker
MGD
×
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
Scoliosis, unspecified
0.300
Biomarker
HPO
×
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
Scoliosis, unspecified
0.200
Biomarker
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
Scoliosis, unspecified
0.190
GeneticVariation
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
Scoliosis, unspecified
0.190
GeneticVariation
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
Scoliosis, unspecified
0.190
GeneticVariation
BEFREE
Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3 .
21592015 2011
×
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3
Scoliosis, unspecified
0.190
GeneticVariation
BEFREE
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.
21510772 2011
×
Entrez Id: 64221
Gene Symbol: ROBO3
ROBO3
Scoliosis, unspecified
0.190
GeneticVariation
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
Scoliosis, unspecified
0.190
GeneticVariation
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
Scoliosis, unspecified
0.190
GeneticVariation
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
Scoliosis, unspecified
0.190
GeneticVariation
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
Scoliosis, unspecified
0.190
GeneticVariation
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