C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
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: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		phenotype Finding 18 0.100 None 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C4073169
Disease: Decreased serum complement C4
Decreased serum complement C4 		phenotype Finding 5 0.100 None 0
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		disease Disease or Syndrome 3 16 0.100 None 0 14
CUI: C4315963
Disease: Alveolar bone loss around teeth
Alveolar bone loss around teeth 		phenotype Finding 1 0.100 None 0
CUI: C4321325
Disease: Lupus anticoagulant -- finding
Lupus anticoagulant -- finding 		phenotype Finding 5 0.100 None 0
CUI: C1858981
Disease: Antineutrophil antibody positivity
Antineutrophil antibody positivity 		phenotype Laboratory or Test Result 15 0.100 None 0
CUI: C1856714
Disease: Palmoplantar cutis laxa
Palmoplantar cutis laxa 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C1855642
Disease: Atrophy of alveolar ridges
Atrophy of alveolar ridges 		phenotype Finding 3 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C1142517
Disease: Lupus anticoagulant measurement
Lupus anticoagulant measurement 		phenotype Laboratory Procedure 5 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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		phenotype Finding 19 3 0.100 None 0
CUI: C4477095
Disease: Increased lactate dehydrogenase activity
Increased lactate dehydrogenase activity 		phenotype Finding 27 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 50 2 0.100 None 0
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.100 None 0
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.100 None 0
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 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: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.100 None 0