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: 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: 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: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 35 3 0.400 strong 1.000 11 2012 2020
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.300 strong 1.000 1 2013 2013
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: C0271586
Disease: Prolactin Deficiency, Isolated
Prolactin Deficiency, Isolated 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Finding 1 0.300 strong 1.000 1 2013 2013
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		disease Finding 16 0.300 strong 1.000 1 2013 2013
CUI: C1578691
Disease: Myxedema, Congenital
Myxedema, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome; Congenital Abnormality 4 0.300 None 1.000 1 2012 2012
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: 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
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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.140 None 1.000 4 2015 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2016 2016
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.070 None 0.857 7 1 1993 2015
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: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.060 None 0.833 6 1 2013 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.800 5 1993 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 1993 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 1993 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.040 None 1.000 4 2002 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.030 None 0.667 3 1993 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2010 2014