CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
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.
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C1839455
Disease: Properdin Deficiency, Type II
Properdin Deficiency, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1839456
Disease: Properdin Deficiency, Type III
Properdin Deficiency, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
Dysfunctional alternative complement pathway
phenotype Finding 1 0.100 None 0
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.020 None 0.500 2 1 2010 2012
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.040 None 0.750 4 2017 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.040 None 0.750 4 2017 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.040 None 0.750 4 2017 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.100 None 1.000 39 2000 2019
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
disease Infections; Respiratory Tract Diseases Disease or Syndrome 358 171 0.090 None 1.000 9 2009 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.090 None 1.000 9 2009 2018
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 11 5 0.700 limited 1.000 7 5 1995 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.060 None 1.000 6 2015 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.060 None 1.000 6 2017 2019
CUI: C1609538
Disease: Latent Tuberculosis
Latent Tuberculosis
disease Infections Disease or Syndrome 183 18 0.050 None 1.000 5 2004 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.050 None 1.000 5 2017 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.040 None 1.000 4 2017 2018
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.040 None 1.000 4 2017 2018
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
disease Infections Disease or Syndrome 116 25 0.030 None 1.000 3 2012 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.030 None 1.000 3 2010 2019
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease
disease Disease or Syndrome 4 0.510 strong 1.000 3 1980 2006
CUI: C0041326
Disease: Pleural Tuberculosis
Pleural Tuberculosis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 59 0.030 None 1.000 3 2011 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.020 None 1.000 2 1989 2019