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: 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: 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: C1840238
Disease: Midnasal stenosis
Midnasal stenosis 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype 0.100 None 0 0
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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
Cleft palate and bilateral cleft lip 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		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: 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: C1834930
Disease: Fusion of the left and right thalami
Fusion of the left and right thalami 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0