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: 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: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease Neoplasms Neoplastic Process 122 20 0.010 None 1.000 1 1989 1989
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2003 2003
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: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.010 None 1.000 1 2003 2003
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 1989 1989
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 1989 1989
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2019 2019
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.010 None 1.000 1 1 2007 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2002 2002
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 170 7 0.010 None 1.000 1 2002 2002
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None < 0.001 1 2005 2005
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2003 2003
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2017 2017
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 12 4 0.010 None 1.000 1 2009 2009
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2018 2018
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2017 2017
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2017 2017
CUI: C0270629
Disease: Epidural Abscess
Epidural Abscess 		disease Infections; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 13 0.010 None 1.000 1 2016 2016
CUI: C0545074
Disease: Myxoid/Round Cell Liposarcoma
Myxoid/Round Cell Liposarcoma 		disease Neoplasms Neoplastic Process 61 0.010 None 1.000 1 2014 2014
CUI: C1142127
Disease: Pneumococcal bacteraemia
Pneumococcal bacteraemia 		disease Infections Disease or Syndrome 12 3 0.010 None 1.000 1 2003 2003
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: C0149778
Disease: Soft Tissue Infection
Soft Tissue Infection 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2006 2006
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2015 2015