Source: ALL

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: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0152421
Disease: Macrotia
Macrotia 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype 0.100 None 0 1
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: C0151526
Disease: Premature Birth
Premature Birth 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
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 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype 0.100 None 0 1
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: 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: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		phenotype 0.100 None 0 1
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: 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: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype 0.100 None 0 1
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: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 1
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: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		phenotype 0.100 None 0 1