ROGDI, rogdi atypical leucine zipper, 79641

N. diseases: 61; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 CausalMutation disease CLINVAR
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 CausalMutation disease CLINVAR
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 CausalMutation disease CLINVAR
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation disease CLINVAR
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		0.100 CausalMutation disease CLINVAR
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		0.100 CausalMutation disease CLINVAR
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		0.100 CausalMutation disease CLINVAR
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		0.100 CausalMutation disease CLINVAR
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
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
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
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
CUI: C3281160
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
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
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
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
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 CausalMutation phenotype CLINVAR
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO