H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
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: C4021467
Disease: Contracture of the proximal interphalangeal joint of the 3rd finger
Contracture of the proximal interphalangeal joint of the 3rd finger 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma 		disease Neoplastic Process 2 1 0.010 None 1.000 1 1 2016 2016
CUI: C0265865
Disease: Mesocardia
Mesocardia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 1 0.100 None 0 1
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly 		disease Congenital Abnormality 2 1 0.100 None 0 1
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 2 2 0.100 None 0 1
CUI: C0334552
Disease: Malignant Giant Cell Tumor of Bone
Malignant Giant Cell Tumor of Bone 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 3 0.030 None 0.667 3 2017 2019
CUI: C0334553
Disease: Giant Cell Tumor of Soft Tissue
Giant Cell Tumor of Soft Tissue 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2020 2020
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.100 None 0 1
CUI: C1266167
Disease: Chondrosarcoma, Clear Cell
Chondrosarcoma, Clear Cell 		disease Neoplasms Neoplastic Process 4 0.010 None < 0.001 1 2016 2016
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		disease Disease or Syndrome 4 3 0.100 None 0 1
CUI: C0029405
Disease: Osteitis Fibrosa Cystica
Osteitis Fibrosa Cystica 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		phenotype Finding 6 14 0.300 None 1.000 3 2 2012 2013
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia 		phenotype Finding 8 3 0.100 None 0 1
CUI: C1334008
Disease: High Grade Sarcoma
High Grade Sarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C0029441
Disease: Osteoid osteoma
Osteoid osteoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C1332982
Disease: Childhood Mesenchymal Chondrosarcoma
Childhood Mesenchymal Chondrosarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C4283858
Disease: Anaplastic Pleomorphic Xanthoastrocytoma
Anaplastic Pleomorphic Xanthoastrocytoma 		disease Neoplasms Neoplastic Process 10 2 0.010 None 1.000 1 2018 2018
CUI: C0221290
Disease: Chondromyxoid fibroma
Chondromyxoid fibroma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2019 2019
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 0.100 None 0 1
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 17 5 0.100 None 0 1
CUI: C0008476
Disease: Chondromatosis, Synovial
Chondromatosis, Synovial 		disease Musculoskeletal Diseases Neoplastic Process 18 0.010 None 1.000 1 2019 2019
CUI: C0029427
Disease: Synovial osteochondromatosis
Synovial osteochondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2019 2019
CUI: C0008441
Disease: Chondroblastoma
Chondroblastoma 		disease Neoplasms Neoplastic Process 22 0.090 None 1.000 9 2013 2019
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 22 1 0.100 None 0 1