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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0 1
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		phenotype Eye Diseases Finding 13 8 0.100 None 0 1
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		phenotype Finding 10 1 0.100 None 0 1
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		phenotype Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 0.100 None 0 1
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		phenotype Finding 18 11 0.100 None 0 1
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2013 2014
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C4021638
Disease: Absent nasal septal cartilage
Absent nasal septal cartilage 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0846967
Disease: Acanthoma
Acanthoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.030 None 1.000 3 2007 2016
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 2017 2017
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.030 None 1.000 3 2006 2017
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.020 None 1.000 2 2013 2018
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.010 None 1.000 1 2012 2012
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.060 None 0.833 6 2000 2016
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 23 4 0.020 None 1.000 2 1991 1992
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.060 None 0.833 6 1998 2017