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: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.020 None 1.000 2 2010 2019
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2013 2013
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.010 None 1.000 1 2013 2013
CUI: C1112433
Disease: Thromboembolic stroke
Thromboembolic stroke 		disease Cardiovascular Diseases Disease or Syndrome 13 1 0.010 None < 0.001 1 2018 2018