INTS1, integrator complex subunit 1, 26173

N. diseases: 5; N. variants: 0
Source: CURATED ×
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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 37 13 0.310 strong 1.000 1 2007 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 17 579 0.300 strong 1.000 1 2007 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 133 505 0.300 strong 1.000 1 2007 2007
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 8 13 0.300 strong 1.000 1 2007 2007
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 81 109 0.300 None 0