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: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2020 2020
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2004 2004
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.010 None 1.000 1 2010 2010
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2013 2013
CUI: C0032320
Disease: Pneumoperitoneum
Pneumoperitoneum 		disease Digestive System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C0546476
Disease: Multiple self-healing squamous epithelioma
Multiple self-healing squamous epithelioma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 1997 1997
CUI: C0030472
Disease: Paraneoplastic Syndromes
Paraneoplastic Syndromes 		group Neoplasms Neoplastic Process 28 0.010 None 1.000 1 2018 2018
CUI: C0030299
Disease: Pancreatic Pseudocyst
Pancreatic Pseudocyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 11 0.010 None 1.000 1 2006 2006
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2019 2019
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease Neoplasms Neoplastic Process 517 25 0.010 None 1.000 1 2014 2014
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2016 2016
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.010 None 1.000 1 2018 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.010 None 1.000 1 2003 2003
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.010 None 1.000 1 2016 2016
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 16 0.010 None 1.000 1 2011 2011
CUI: C0432408
Disease: Trisomy 12
Trisomy 12 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 0.010 None 1.000 1 2012 2012
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.010 None 1.000 1 2017 2017
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		disease Neoplasms Neoplastic Process 9 4 0.010 None 1.000 1 2012 2012
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2018 2018
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		disease Neoplasms Neoplastic Process 16 1 0.010 None 1.000 1 2006 2006
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2012 2012
CUI: C0497550
Disease: Benign neurologic neoplasms
Benign neurologic neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 29 2 0.010 None 1.000 1 2012 2012
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2015 2015
CUI: C0035112
Disease: Reoviridae Infections
Reoviridae Infections 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2003 2003
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 1 2019 2019