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: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 8 11 0.740 strong 1.000 6 11 1995 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.300 None 1.000 1 2019 2019
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
phenotype Finding 1 0.300 strong 1.000 1 2017 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.110 None 1.000 1 2017 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 1 1 2017 2017
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Yellow-brown discoloration of the teeth
phenotype Finding 7 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0 2
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 104 13 0.100 None 0 2
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure
phenotype Finding 73 10 0.100 None 0 2
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype Finding 22 27 0.100 None 0 2
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0 2
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 0 2
Abnormality of the cerebral ventricles
disease Anatomical Abnormality 4 5 0.100 None 0 2
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex
disease Anatomical Abnormality 11 8 0.100 None 0 2
Cutaneous syndactyly between fingers 2 and 5
phenotype Anatomical Abnormality 1 2 0.100 None 0 2
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb
phenotype Anatomical Abnormality 1 2 0.100 None 0 2
Abnormality of the subarachnoid space
phenotype Anatomical Abnormality 3 4 0.100 None 0 2
Abnormal metabolic brain imaging by MRS
phenotype Finding 2 2 0.100 None 0 2
Reduced brain N-acetyl aspartate level by MRS
phenotype Finding 11 8 0.100 None 0 2