FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
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.
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 limited 1.000 6 1994 2015
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 5 3 2017 2019
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B
disease Disease or Syndrome 4 3 0.200 None 1.000 3 2001 2010
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D
disease Disease or Syndrome 3 20 0.200 None 1.000 3 2001 2010
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 2018 2019
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2019 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0264963
Disease: Aneurysm of femoral artery
Aneurysm of femoral artery
phenotype Anatomical Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2017 2017
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 3 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2019 2019
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2019 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 3 2019 2019
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast
phenotype Neoplastic Process 82 3 0.010 None 1.000 1 2005 2005
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
disease Disease or Syndrome 33 28 0.010 None 1.000 1 2015 2015
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET
disease Disease or Syndrome 6 3 0.500 None 1.000 1 2 2014 2014
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2012 2012
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers
phenotype Finding 31 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
phenotype Finding 69 8 0.100 None 0 1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0 1