Source: CLINVAR

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: 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group 0.100 None 0 1
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: 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: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype 0.100 None 0 1
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: 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: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1859376
Disease: Fused sternal ossification centers
Fused sternal ossification centers 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0017639
Disease: Gliosis
Gliosis 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		phenotype 0.100 None 0 2
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4021260
Disease: Long metacarpals
Long metacarpals 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4023802
Disease: Hyperextensibility of the knee
Hyperextensibility of the knee 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
Contracture of the distal interphalangeal joint of the fingers 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		phenotype 0.100 None 0 1
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: 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: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		phenotype 0.100 None 0 1
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 2