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: C0403601
Disease: Transplant glomerulopathy
Transplant glomerulopathy 		disease Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2009 2009
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		phenotype Neoplastic Process 64 2 0.010 None 1.000 1 2019 2019
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 3 2010 2010
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
Undifferentiated (Embryonal) Sarcoma 		disease Neoplastic Process 35 4 0.010 None 1.000 1 2011 2011
CUI: C1333116
Disease: Colorectal Traditional Serrated Adenoma
Colorectal Traditional Serrated Adenoma 		disease Neoplastic Process 14 0.010 None 1.000 1 2014 2014
CUI: C1333190
Disease: Cystic Neoplasm
Cystic Neoplasm 		disease Neoplastic Process 7 0.010 None 1.000 1 2011 2011
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		disease Neoplastic Process 38 2 0.010 None 1.000 1 2004 2004
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2016 2016
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		disease Congenital Abnormality 20 2 0.010 None 1.000 1 2006 2006
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2019 2019
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		disease Congenital Abnormality 22 3 0.010 None 1.000 1 2018 2018
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp 		disease Neoplastic Process 48 6 0.010 None 1.000 1 2016 2016
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2012 2012
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.010 None 1.000 1 2014 2014
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		disease Disease or Syndrome 3 4 0.300 strong 1.000 1 2016 2016
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		phenotype Finding 41 259 0.100 None 1.000 1 6 2010 2010
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		disease Disease or Syndrome 133 54 0.010 None 1.000 1 2008 2008
CUI: C3896673
Disease: Familial Nonmedullary Thyroid Gland Carcinoma
Familial Nonmedullary Thyroid Gland Carcinoma 		disease Neoplastic Process 31 6 0.010 None 1.000 1 2014 2014
CUI: C4049446
Disease: Neointimal hyperplasia
Neointimal hyperplasia 		disease Disease or Syndrome 198 0.010 None 1.000 1 2013 2013
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease Disease or Syndrome 7 32 0.100 None 1.000 1 2 2016 2016
CUI: C4330671
Disease: Medulloblastoma, SHH-Activated
Medulloblastoma, SHH-Activated 		disease Neoplastic Process 2 0.010 None 1.000 1 2016 2016
CUI: C4727087
Disease: Metastatic Lung Carcinoma
Metastatic Lung Carcinoma 		disease Neoplastic Process 10 0.010 None 1.000 1 2018 2018