TRIM8, tripartite motif containing 8, 81603

N. diseases: 43; N. variants: 1
Source: CLINVAR ×
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: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 45 62 0.100 None 0 1
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney
disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 303 505 0.400 strong 1.000 0 1 2013 2013
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 8 8 0.100 None 0 1
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 36 46 0.100 None 0 1
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 10 10 0.100 None 0 1
Widely-spaced maxillary central incisors
phenotype Finding 1 1 0.100 None 0 1
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
phenotype Finding 7 7 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 6 7 0.100 None 0 1
CUI: C3693299
Disease: Broad uvula
Broad uvula
phenotype Finding 2 2 0.100 None 0 1
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section
phenotype Finding 11 15 0.100 None 0 1
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 13 18 0.100 None 0 1
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 6 0.100 None 0 1
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
disease Cardiovascular Diseases Disease or Syndrome 8 19 0.100 None 0 1
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 16 17 0.100 None 0 1
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 24 0.100 None 0 1
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 30 38 0.100 None 0 1
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 46 52 0.100 None 0 1
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 25 28 0.100 None 0 1
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 4 4 0.100 None 0 1
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease Eye Diseases Disease or Syndrome 15 14 0.100 None 0 1
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 45 52 0.100 None 0 1
CUI: C0006157
Disease: Breech Presentation
Breech Presentation
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 10 11 0.100 None 0 1