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: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 20 3 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis 		phenotype Finding 16 0.100 None 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		phenotype Finding 6 1 0.100 None 0 1
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 9 5 0.100 None 0 1
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		phenotype Finding 1 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: 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: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype Finding 32 4 0.100 None 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.100 None 0 1
CUI: C1857025
Disease: Progressive congenital scoliosis
Progressive congenital scoliosis 		disease Musculoskeletal Diseases Congenital Abnormality 4 1 0.100 None 0 1
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: C1859376
Disease: Fused sternal ossification centers
Fused sternal ossification centers 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.100 None 0 1
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0 1
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0