Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
CTD_human |
We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.
|
31209396 |
2019 |
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Cancer risk susceptibility loci in a Swedish population.
|
29299148 |
2017 |
Kohlschutter Tonz syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
|
28651123 |
2017 |
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
|
28651123 |
2017 |
Kohlschutter Tonz syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS.
|
27600704 |
2017 |
Amelogenesis Imperfecta
|
0.110 |
Biomarker
|
disease |
BEFREE |
In comparison, the histological evaluation of a molar assessed from an individual with ROGDI-associated KTZS revealed hypocalcified AI.
|
27600704 |
2017 |
Kohlschutter Tonz syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
|
25111118 |
2014 |
2-methyl-3-hydroxybutyric aciduria
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
|
25111118 |
2014 |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
|
25111118 |
2014 |
Kohlschutter Tonz syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
|
23086778 |
2013 |
Kohlschutter Tonz syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
|
23086778 |
2013 |
Klippel-Trenaunay-Weber Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype.
|
23086778 |
2013 |
Kohlschutter Tonz syndrome
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
|
22424600 |
2012 |
Kohlschutter Tonz syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
|
22424600 |
2012 |
Kohlschutter Tonz syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
|
22424600 |
2012 |
Kohlschutter Tonz syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
|
22424600 |
2012 |
Kohlschutter Tonz syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
|
22424600 |
2012 |
Klippel-Trenaunay-Weber Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.
|
22424600 |
2012 |
Kohlschutter Tonz syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome.
|
7625549 |
1995 |
Kohlschutter Tonz syndrome
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
Amelogenesis Imperfecta
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dental Enamel Hypoplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hydrocephalus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|