PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
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: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.010 None 1.000 1 2001 2001
CUI: C0749424
Disease: Thyroid Hurthle Cell Carcinoma
Thyroid Hurthle Cell Carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 8 1 0.010 None 1.000 1 2015 2015
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 167 11 0.010 None 1.000 1 2016 2016
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2019 2019
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 227 20 0.010 None 1.000 1 2009 2009
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.010 None 1.000 1 2011 2011
CUI: C0846967
Disease: Acanthoma
Acanthoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
Undifferentiated (Embryonal) Sarcoma 		disease Neoplastic Process 35 4 0.010 None 1.000 1 2011 2011
CUI: C0862889
Disease: Superficial basal cell carcinoma
Superficial basal cell carcinoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2002 2002
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 2003 2003
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 145 156 0.010 None 1.000 1 2013 2013
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		phenotype Neoplastic Process 64 2 0.010 None 1.000 1 2019 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2012 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2014 2014
CUI: C0029427
Disease: Synovial osteochondromatosis
Synovial osteochondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 18 0.010 None 1.000 1 2005 2005
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2016 2016
CUI: C0600113
Disease: Stromal tumor of ovary
Stromal tumor of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2005 2005
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2017 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2017 2017
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2010 2010
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2018 2018
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 1999 1999
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2016 2016
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		phenotype Neoplasms Neoplastic Process 184 9 0.010 None 1.000 1 2019 2019
CUI: C0917813
Disease: Spina Bifida, Open
Spina Bifida, Open 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 5 0.010 None 1.000 1 2012 2012