PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
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: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 0.770 limited 1.000 11 2 1985 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 557 91 0.460 None 1.000 6 1999 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.050 None 1.000 5 1994 2012
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		disease Neoplasms Neoplastic Process 225 9 0.020 None < 0.001 2 1997 1997
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 0.500 2 1992 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.020 None 1.000 2 1994 2006
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 12 22 0.300 None 1.000 2 2008 2013
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.010 None 1.000 1 2018 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2006 2006
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 457 10 0.010 None 1.000 1 2006 2006
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.300 None 1.000 1 2009 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.610 moderate 1.000 1 1 1999 1999
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		disease Neoplasms Neoplastic Process 282 21 0.010 None 1.000 1 2005 2005
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2018 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 1999 1999
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		disease Neoplasms Neoplastic Process 232 3 0.010 None 1.000 1 2002 2002
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2018 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2019 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.310 None 1.000 1 1999 1999
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.310 None 1.000 1 1999 1999
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2018 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2019 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.010 None 1.000 1 2018 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 1992 1992
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		disease Neoplasms Neoplastic Process 270 22 0.010 None 1.000 1 2005 2005