HDAC6, histone deacetylase 6, 10013

N. diseases: 288; N. variants: 1
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: C3275476
Disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA 		disease Disease or Syndrome 1 1 0.700 limited 1.000 2 1 2010 2016
CUI: C0694457
Disease: Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) 		group Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C3550873
Disease: Hypoplasia of the calcaneus
Hypoplasia of the calcaneus 		phenotype Finding 1 0.100 None 0
CUI: C4728187
Disease: Steroid diabetes
Steroid diabetes 		disease Disease or Syndrome 2 0.010 None 1.000 1 2020 2020
CUI: C1834980
Disease: Metaphyseal cupping of proximal phalanges
Metaphyseal cupping of proximal phalanges 		phenotype Finding 2 0.100 None 0
CUI: C4024689
Disease: Abnormality of the calcaneus
Abnormality of the calcaneus 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1855171
Disease: Metaphyseal cupping of metacarpals
Metaphyseal cupping of metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma 		disease Neoplasms Neoplastic Process 5 2 0.010 None 1.000 1 2014 2014
CUI: C1832274
Disease: Charcot-Marie-Tooth disease, Type 2D
Charcot-Marie-Tooth disease, Type 2D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 9 0.010 None 1.000 1 2018 2018
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		phenotype Finding 6 3 0.100 None 0
CUI: C0278727
Disease: Small cell lung cancer recurrent
Small cell lung cancer recurrent 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 2016 2016
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0028643
Disease: Numbness
Numbness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 12 2 0.010 None 1.000 1 2017 2017
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2017 2017
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.100 None 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2018 2018
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group Congenital Abnormality 23 1 0.100 None 0
CUI: C0348893
Disease: Chronic superficial gastritis
Chronic superficial gastritis 		disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2017 2017
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 34 11 0.010 None 1.000 1 2019 2019
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.010 None 1.000 1 2018 2018
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 38 17 0.010 None 1.000 1 2018 2018
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.010 None 1.000 1 2016 2016