ADAMTSL1, ADAMTS like 1, 92949

N. diseases: 40; N. variants: 16
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: C0751572
Disease: Vertebrobasilar Dolichoectasia
Vertebrobasilar Dolichoectasia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 5 3 0.100 None 0
CUI: C1832127
Disease: Square face
Square face 		phenotype Finding 8 1 0.100 None 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		phenotype Finding 10 0.100 None 0
CUI: C1266708
Disease: Polybrominated biphenyl measurement
Polybrominated biphenyl measurement 		phenotype Laboratory Procedure 12 14 0.100 None 1.000 1 1 2017 2017
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		disease Anatomical Abnormality 12 2 0.100 None 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.100 None 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 23 7 0.100 None 0
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 25 0.100 None 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		phenotype Behavior and Behavior Mechanisms Injury or Poisoning 31 91 0.100 None 1.000 1 1 2018 2018
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 39 2 0.100 None 0
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.110 None 1.000 1 2017 2017
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2019 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.110 None 1.000 1 1 2019 2019
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0