TaoMedAI/RareMedData huggingface dataset:
Gene: COL6A1
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Motor delay (HP:0001270)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Motor delay (HP:0001270)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Areflexia (HP:0001284)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Slender finger (HP:0001238)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Proteinuria (HP:0000093)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Increased laxity of fingers (HP:0006149)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Increased laxity of fingers (HP:0006149)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Gowers sign (HP:0003391)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Long toe (HP:0010511)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Knee contracture (HP:0034671)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Ankle contracture (HP:0034677)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Finger joint contracture (HP:0034681)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Facial palsy (HP:0010628)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Scapular winging (HP:0003691)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Frequent falls (HP:0002359)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Progressive (HP:0003676)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Difficulty running (HP:0009046)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Abnormal cranial nerve physiology (HP:0031910)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Curved toe phalanx (HP:0010176)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Myopathy (HP:0003198)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Skin rash (HP:0000988)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Pes valgus (HP:0008081)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Increased laxity of ankles (HP:0006460)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Arthralgia (HP:0002829)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Kyphosis (HP:0002808)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: BETHLEM MYOPATHY 1 (OMIM:158810)
Gene: COL6A1
Phenotype: Reduced muscle collagen VI (HP:0030095)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Reduced muscle collagen VI (HP:0030095)
Associated disease: LGMD D5 collagen VI-related dystrophy; Mild form of collagen VI-related dystrophy; LGMD D5 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Bethlem myopathy; Mild form of COL6-related dystrophy; LGMD R22 collagen 6-related dystrophy; Bethlem muscular dystrophy (ORPHA:610)
Gene: COL6A1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: UCMD; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Gene: COL6A1
Phenotype: High palate (HP:0000218)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)
Gene: COL6A1
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 (OMIM:254090)