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: C0022361
Disease: Jaw Cysts
Jaw Cysts
disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Acquired Abnormality 3 0.010 None 1.000 1 2006 2006
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2010 2010
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2013 2014
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.020 None 1.000 2 2014 2018
CUI: C0014511
Disease: Epithelial cyst
Epithelial cyst
phenotype Neoplasms Anatomical Abnormality 38 0.010 None 1.000 1 2003 2003
CUI: C0399558
Disease: Glandular odontogenic cyst
Glandular odontogenic cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 4 0.010 None < 0.001 1 2001 2001
CUI: C1265736
Disease: Orthokeratinized odontogenic cyst
Orthokeratinized odontogenic cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2019 2019
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0 1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles
disease Anatomical Abnormality 32 6 0.100 None 0 1
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0 1
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb
disease Anatomical Abnormality 11 5 0.100 None 0 1
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0 1
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging
disease Anatomical Abnormality 8 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged
disease Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
disease Anatomical Abnormality 67 2 0.100 None 0
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing
disease Anatomical Abnormality 2 1 0.100 None 0 1