ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0023308
Disease: Lens Diseases
Lens Diseases 		group Eye Diseases Disease or Syndrome 4 0.200 None 0
CUI: C2746069
Disease: Familial ectopia lentis
Familial ectopia lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.300 None 0
CUI: C2673634
Disease: Ectopia Lentis, Isolated, Autosomal Recessive
Ectopia Lentis, Isolated, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.300 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality 14 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 2 6 0.800 strong 1.000 7 6 2010 2015