IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
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: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2018 2018
CUI: C0342154
Disease: Congenital atrophy of thyroid
Congenital atrophy of thyroid 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.200 None 1.000 1 2012 2012
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 11 3 0.200 None 1.000 1 2012 2012
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis 		disease Congenital Abnormality 4 1 0.010 None 1.000 1 2014 2014
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 35 3 0.400 strong 1.000 11 2012 2020
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.060 None 0.833 6 1 2013 2018
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 0.060 None 1.000 6 2013 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.140 None 1.000 4 2015 2019
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 5 0.900 strong 1.000 3 5 2012 2015
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.020 None 1.000 2 2015 2016
CUI: C0001206
Disease: Acromegaly
Acromegaly 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.010 None 1.000 1 2015 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019
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 0.500 None 1.000 1 2012 2012
CUI: C0017547
Disease: Gigantism
Gigantism 		disease Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2015 2015
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.010 None 1.000 1 2016 2016
CUI: C0033575
Disease: Prostatic Diseases
Prostatic Diseases 		group Male Urogenital Diseases Disease or Syndrome 72 4 0.010 None 1.000 1 2008 2008
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2019 2019
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		group Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.300 None 1.000 1 2012 2012
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 26 0.300 None 1.000 1 2012 2012
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		disease Disease or Syndrome 16 7 0.010 None 1.000 1 2015 2015
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 22 22 0.010 None 1.000 1 2017 2017
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2017 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.300 strong 1.000 1 2013 2013
CUI: C0342151
Disease: Congenital hypothyroidism without goiter
Congenital hypothyroidism without goiter 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome; Congenital Abnormality 1 0.200 None 1.000 1 2012 2012