CFD, complement factor D, 1675

N. diseases: 83; 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: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.020 None 1.000 2 2019 2020
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2020 2020
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2020 2020
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.020 None 0.500 2 2014 2019
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 13 1 0.010 None 1.000 1 2019 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.010 None 1.000 1 2019 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.010 None 1.000 1 2019 2019
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 18 2 0.010 None 1.000 1 2019 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2019 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 2019 2019
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 45 10 0.010 None 1.000 1 2019 2019
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None 1.000 1 2019 2019
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 209 37 0.010 None 1.000 1 2019 2019
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2006 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.020 None 1.000 2 2018 2018
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 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 2018 2018
CUI: C0333099
Disease: Fusiform Aneurysm
Fusiform Aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2018 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None < 0.001 1 2018 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2018 2018
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.400 strong 1.000 1 2018 2018
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.010 None 1.000 1 2018 2018
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2018 2018
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.010 None 1.000 1 2018 2018