COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 3 0.100 None 0 1
CUI: C0334083
Disease: Connective tissue nevus, NOS
Connective tissue nevus, NOS 		disease Neoplasms Neoplastic Process 6 1 0.100 None 0 1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 30 6 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 29 4 0.100 None 0
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 18 1 0.100 None 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm 		phenotype Cardiovascular Diseases Pathologic Function 4 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		disease Disease or Syndrome 5 0.100 None 0
CUI: C4721411
Disease: Osteolysis
Osteolysis 		phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C0007871
Disease: Uterine Cervical Incompetence
Uterine Cervical Incompetence 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 1 0.100 None 0