HCCS, holocytochrome c synthase, 3052

N. diseases: 135; 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: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0235812
Disease: Vitritis
Vitritis 		disease Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None < 0.001 1 2005 2005
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		disease Cardiovascular Diseases Disease or Syndrome 13 4 0.100 None 0
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C0343532
Disease: Streptococcal toxic shock syndrome
Streptococcal toxic shock syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 16 0.010 None < 0.001 1 2005 2005
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2017 2017
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C0149778
Disease: Soft Tissue Infection
Soft Tissue Infection 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2006 2006
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.010 None 1.000 1 2018 2018
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease Eye Diseases Disease or Syndrome 42 3 0.110 None 1.000 1 1 2007 2007
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 2 0.100 None 0