COL12A1, collagen type XII alpha 1 chain, 1303

N. diseases: 93; N. variants: 15
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: C4225313
Disease: BETHLEM MYOPATHY 2
BETHLEM MYOPATHY 2 		disease Disease or Syndrome 1 7 0.600 strong 1.000 4 7 2014 2017
CUI: C4225314
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 		disease Disease or Syndrome 1 8 0.400 None 1.000 4 8 2014 2017
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		disease Disease or Syndrome 2 3 0.300 strong 1.000 1 2017 2017
CUI: C1262148
Disease: Grip strength decreased
Grip strength decreased 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2014 2014
CUI: C0038604
Disease: Subungual exostoses
Subungual exostoses 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process 4 0.010 None 1.000 1 2006 2006
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		phenotype Finding 4 0.100 None 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		phenotype Finding 5 1 0.100 None 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		phenotype Nervous System Diseases Finding 6 0.100 None 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 8 0.100 None 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0221290
Disease: Chondromyxoid fibroma
Chondromyxoid fibroma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2009 2009
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 108 0.610 limited 1.000 3 2014 2018
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 34 0.500 None 1.000 1 2014 2014
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 20 5 0.100 None 0
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 24 8 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		phenotype Finding 28 3 0.100 None 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C1442903
Disease: Exostoses
Exostoses 		phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.010 None 1.000 1 2006 2006
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.100 None 0