FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C3805726
Disease: Medial rotation of the medial malleolus
Medial rotation of the medial malleolus 		phenotype Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0 1
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C3276324
Disease: Fifth metacarpal with ulnar notch
Fifth metacarpal with ulnar notch 		phenotype Finding 2 0.100 None 0
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C3276815
Disease: Stiff skin
Stiff skin 		phenotype Finding 6 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0 1
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0 3
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 30 6 0.100 None 0 1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0 1
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.100 None 0 1
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0 3
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0 1
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 20 5 0.100 None 0 1
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0 1