Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
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
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
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
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
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
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 CausalMutation disease CLINVAR Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. 23086778 2013
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 GeneticVariation disease BEFREE Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. 23086778 2013
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 GeneticVariation disease CLINVAR Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 22424600 2012
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 CausalMutation disease CLINVAR Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 22424600 2012
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 GermlineCausalMutation disease ORPHANET Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 22424600 2012
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 Biomarker disease GENOMICS_ENGLAND Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 22424600 2012
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 GeneticVariation disease BEFREE Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 22424600 2012
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 Biomarker disease GENOMICS_ENGLAND A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. 7625549 1995
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
0.740 Biomarker disease CTD_human