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.
Abnormality of pelvic girdle bone morphology
disease Anatomical Abnormality 55 5 0.100 None 0 2
CUI: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint
disease Anatomical Abnormality 2 2 0.100 None 0 2
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum
disease Anatomical Abnormality 7 5 0.100 None 0 2
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 20 11 0.100 None 0 2
Abnormality of the subarachnoid space
phenotype Anatomical Abnormality 3 4 0.100 None 0 2
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb
phenotype Anatomical Abnormality 1 2 0.100 None 0 2
Cutaneous syndactyly between fingers 2 and 5
phenotype Anatomical Abnormality 1 2 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
Abnormality of the cerebral ventricles
disease Anatomical Abnormality 4 5 0.100 None 0 2
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: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0 2
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0 2
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 2
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: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome
disease Cardiovascular Diseases Disease or Syndrome 14 6 0.020 None 1.000 2 1 2012 2013
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 10 0.010 None 1.000 1 2014 2014
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
disease Disease or Syndrome 7 5 0.010 None 1.000 1 2014 2014
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.100 None 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.100 None 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 2
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0 2
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.100 None 0 2