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: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
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
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		0.100 CausalMutation phenotype CLINVAR
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		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: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		0.100 CausalMutation disease CLINVAR
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		0.100 CausalMutation phenotype CLINVAR
CUI: C0002452
Disease: Amelogenesis Imperfecta
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
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.110 Biomarker disease HPO
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: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation phenotype CLINVAR
CUI: C4025165
Disease: Cutaneous syndactyly between fingers 2 and 5
Cutaneous syndactyly between fingers 2 and 5 		0.100 CausalMutation phenotype CLINVAR
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb 		0.100 CausalMutation phenotype CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO