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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation phenotype CLINVAR
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation phenotype CLINVAR
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 CausalMutation phenotype CLINVAR
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.100 CausalMutation phenotype CLINVAR
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 CausalMutation phenotype CLINVAR
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.100 CausalMutation phenotype CLINVAR
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group 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: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.100 CausalMutation phenotype CLINVAR
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		0.100 CausalMutation phenotype CLINVAR
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		0.100 CausalMutation phenotype CLINVAR
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb 		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: 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
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