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: 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: C0575802
Disease: Small hand
Small hand
0.100 CausalMutation phenotype CLINVAR
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
0.100 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
0.100 CausalMutation phenotype CLINVAR
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 Biomarker disease HPO
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
0.100 CausalMutation phenotype CLINVAR
CUI: C1843108
Disease: Short palm
Short palm
0.100 CausalMutation phenotype CLINVAR
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
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
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