SIM1, SIM bHLH transcription factor 1, 6492

N. diseases: 84; N. variants: 11
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 2013 2014
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.310 None 0.500 2 2008 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.310 None 1.000 2 2005 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.020 None 1.000 2 2013 2014
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.020 None 1.000 2 2013 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.310 None 1.000 2 2005 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2016 2016
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		phenotype Nutritional and Metabolic Diseases Finding 37 0.300 None 1.000 1 2008 2008
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2019 2019
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2005 2005
CUI: C1518005
Disease: Low Grade Cervical Squamous Intraepithelial Neoplasia
Low Grade Cervical Squamous Intraepithelial Neoplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 8 0.010 None 1.000 1 2015 2015
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.010 None 1.000 1 2019 2019
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 37 2 0.010 None 1.000 1 2019 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2005 2005
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C1302773
Disease: Low Grade Squamous Intraepithelial Neoplasia
Low Grade Squamous Intraepithelial Neoplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 94 2 0.010 None 1.000 1 2015 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 1997 1997
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2005 2005
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2015 2015
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 49 7 0.010 None 1.000 1 2013 2013
CUI: C4054476
Disease: Monogenic Obesity
Monogenic Obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 1 0.010 None 1.000 1 2009 2009
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.010 None 1.000 1 2013 2013
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2020 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2020 2020