HDAC8, histone deacetylase 8, 55869

N. diseases: 35; N. variants: 28
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: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 264 0.100 None 0 1
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 6 7 0.100 None 0 1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 13 17 0.100 None 0 1
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		disease Congenital Abnormality 3 3 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 37 39 0.100 None 0 1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 10 11 0.100 None 0 1
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 7 7 0.100 None 0 1
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 15 14 0.100 None 0 1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 30 32 0.100 None 0 1
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		phenotype Finding 4 4 0.100 None 0 1
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		disease Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease Anatomical Abnormality 4 4 0.100 None 0 1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 9 24 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 6 5 0.100 None 0 1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 18 28 0.100 None 0 1
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 52 0.100 None 0 1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 39 0.100 None 0 1
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		disease Skin and Connective Tissue Diseases Congenital Abnormality 3 3 0.100 None 0 1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 37 43 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 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 19 23 0.100 None 0 1
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 9 8 0.100 None 0 1