PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0 1
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0 1
CUI: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		phenotype Finding 4 1 0.100 None 0 1
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0 1
CUI: C0037293
Disease: Skin tag
Skin tag 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 17 1 0.100 None 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype Finding 32 4 0.100 None 0
CUI: C1857025
Disease: Progressive congenital scoliosis
Progressive congenital scoliosis 		disease Musculoskeletal Diseases Congenital Abnormality 4 1 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		phenotype Finding 7 1 0.100 None 0
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		disease Congenital Abnormality 5 6 0.100 None 0 1
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		phenotype Finding 10 1 0.100 None 0 1
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		phenotype Eye Diseases Finding 13 8 0.100 None 0 1
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0 2
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0 1
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0 1
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 0 1
CUI: C1852301
Disease: Plantar pits
Plantar pits 		phenotype Finding 4 0.100 None 0
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		disease Mental Disorders Mental or Behavioral Dysfunction 9 7 0.100 None 0 1
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
Cleft palate and bilateral cleft lip 		disease Congenital Abnormality 18 10 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease Disease or Syndrome 6 0.100 None 0