ROGDI, rogdi atypical leucine zipper, 79641

N. diseases: 61; N. variants: 12
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		phenotype Finding 1 0.300 strong 1.000 1 2017 2017
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 210 32 0.100 None 0 2
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 2
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0 2
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0 2
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0 2
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0 2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 2
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0 2
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0 2
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype Finding 73 10 0.100 None 0 2
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0 2
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0 2
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1863008
Disease: Yellow-brown discoloration of the teeth
Yellow-brown discoloration of the teeth 		phenotype Finding 7 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 2
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		phenotype Finding 2 2 0.100 None 0 2