C1S, complement C1s, 716

N. diseases: 43; N. variants: 10
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: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		disease Disease or Syndrome 3 16 0.700 strong 1.000 2 2 2016 2017
CUI: C3151078
Disease: Complement Component C1s Deficiency
Complement Component C1s Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 2 2 0.600 strong 1.000 1 1 2010 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.400 strong 1.000 1 2010 2010
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.400 None 1.000 1 2001 2001
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 strong 1.000 1 2010 2010
CUI: C0268347
Disease: Ehlers-Danlos Syndrome, Type VIII
Ehlers-Danlos Syndrome, Type VIII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2016 2016
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.300 None 1.000 1 2001 2001
CUI: C1862892
Disease: Hereditary Angioedema Type II
Hereditary Angioedema Type II 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 1988 1988
CUI: C2717905
Disease: Hereditary Angioedema Types I and II
Hereditary Angioedema Types I and II 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 1988 1988
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 2 35 0.300 None 1.000 1 1988 1988
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.300 None 1.000 1 2001 2001
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		group Laboratory Procedure 50 116 0.100 None 1.000 1 1 2015 2015
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2016 2016
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2016 2016
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		phenotype Laboratory Procedure 17 44 0.100 None 1.000 1 1 2018 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 1 2018 2018
CUI: C1855642
Disease: Atrophy of alveolar ridges
Atrophy of alveolar ridges 		phenotype Finding 3 0.100 None 0
CUI: C4025213
Disease: Abnormality of complement system
Abnormality of complement system 		phenotype Pathologic Function 2 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0