Source: HPO

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: C0155285
Disease: Orbital cyst
Orbital cyst 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4025411
Disease: Midline defect of the nose
Midline defect of the nose 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease 0.500 None 0.942 0 0 1994 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma 		disease 0.120 None 1.000 0 0 2008 2015
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease 0.100 None 0 0