Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 16 103 1960 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 13 2 1996 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 13 2 1996 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.110 None 1.000 13 2 1996 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 11 44 1997 2014
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 5 4 2008 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0489786
Disease: Height
Height 		phenotype 0.100 None 1.000 3 2 2008 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype 0.100 None 1.000 2 2 2016 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype 0.100 None 1.000 2 1 2010 2012
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype 0.100 None 1.000 2 2 2019 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0003467
Disease: Anxiety
Anxiety 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0037369
Disease: Smoking
Smoking 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		phenotype 0.100 None 1.000 1 6 2010 2010
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		phenotype 0.100 None 1.000 1 6 2010 2010
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease 0.420 None 1.000 1 1 2006 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 None 1.000 1 1 2006 2017