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: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 46 7 0.800 None 1.000 14 4 1998 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2004 2014
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		disease Infections Disease or Syndrome 222 1 0.040 None 1.000 4 2007 2012
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.030 None 1.000 3 1997 2007
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.330 None 1.000 3 1 2007 2018
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		disease Neoplasms Neoplastic Process 413 9 0.020 None 1.000 2 2017 2018
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid 		disease Neoplasms Neoplastic Process 79 4 0.020 None 1.000 2 2009 2010
CUI: C0023827
Disease: liposarcoma
liposarcoma 		disease Neoplasms Neoplastic Process 200 6 0.020 None 1.000 2 2006 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.020 None 1.000 2 1998 2008
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.020 None 1.000 2 2017 2018
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.020 None 1.000 2 1998 2014
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: 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: 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: 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: 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: 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: 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: C1853235
Disease: Sclerocornea
Sclerocornea 		disease Eye Diseases Disease or Syndrome 42 3 0.110 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2003 2003
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None < 0.001 1 2005 2005
CUI: C0270629
Disease: Epidural Abscess
Epidural Abscess 		disease Infections; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2003 2003