ITSN1, intersectin 1, 6453

N. diseases: 51; 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: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.030 None 1.000 3 2006 2011
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.030 None 1.000 3 2010 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 2012 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.030 None 1.000 3 2012 2017
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.030 None 1.000 3 2013 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 2012 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2006 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.020 None 1.000 2 2016 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 1.000 2 2016 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.020 None 1.000 2 2016 2017
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.020 None 1.000 2 2008 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2019 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2019 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2015 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2014 2014
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2019 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2010 2010
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2020 2020
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2019 2019
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.010 None 1.000 1 2014 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2015 2015
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2015 2015
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2014 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019