|
301
|
|
|
Collagen type IV alpha 5 chain |
ASLN, ATS, ATS1, CA54 |
Alport syndrome, Alport syndrome, x-linked, Benign hematuria, Corneal erosion, Diffuse leiomyomatosis, Focal segmental glomerulosclerosis, Glomerulosclerosis, Hearing loss, Hematuria, Hypertension, Hypoparathyroidism, Ichthyosis, Kidney disease, Leiomyoma, Leiomyosarcoma, Lenticonus, Myopia, Nephritis, Nephrotic syndrome, Renal glomerular disease, Renal insufficiency, Renal tubular disorder, Sensorineural hearing loss, Thoracic aortic aneurysm and aortic dissectionView all (9 more) |
|
302
|
|
|
Collagen type IV alpha 6 chain |
CXDELq22.3, DELXq22.3, DFNX6 |
|
|
303
|
|
|
Charged multivesicular body protein 4B |
C20orf178, CHMP4A, CTPP3, CTRCT31, SNF7, SNF7-2, Shax1, VPS32B, Vps32-2, dJ553F4.4 |
|
|
304
|
|
|
Collagen type V alpha 1 chain |
EDSC, EDSCL1, FMDMF |
Anaplastic carcinoma, Aortic aneurysm, Arachnodactyly, Arthritis, Asthma, Atrial septal defect, Atrophy, Autoimmune lymphoproliferative disorder, Blood coagulation disorders, Bowel diverticulosis, Carcinoma, Cataract, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Congenital keratoglobus, Congenital pectus carinatum, Connective tissue disease, Corneal dystrophy, Cutis laxa, Dwarfism, Ectopia lentis, Eczema, Ehlers-danlos syndrome, Classical-like ehlers-danlos syndrome, Glaucoma, Hiatal hernia, Congenital hip dislocation, Hypertension, Impaired cognition, Microcornea, Microdontia, Migraine, Miscarriage, Mitral valve prolapse, Myopia, Prostatic neoplasms, Prostate cancer, Retinal detachment, Scoliosis, Shagreen patch, Spina bifida occulta, Thoracic aortic aneurysm and aortic dissection, Tricuspid valve prolapse, Urticaria, Venous insufficiencyView all (31 more) |
|
305
|
|
|
Chromosome 22 open reading frame 39 |
Pants |
|
|
306
|
|
|
Collagen type V alpha 2 chain |
EDSC, EDSCL2 |
Aortic aneurysm, Arachnodactyly, Arthritis, Asthma, Atrial septal defect, Atrophy, Autoimmune lymphoproliferative disorder, Blood coagulation disorders, Congenital epicanthus, Congenital exomphalos, Congenital keratoglobus, Congenital pectus carinatum, Connective tissue disease, Corneal dystrophy, Dwarfism, Ectopia lentis, Eczema, Ehlers-danlos syndrome, Classical-like ehlers-danlos syndrome, Glaucoma, Hiatal hernia, Hypertension, Impaired cognition, Liver cirrhosis, Liver fibrosis, Microcornea, Microdontia, Migraine, Miscarriage, Mitral valve prolapse, Multisystemic smooth muscle dysfunction syndrome, Myopia, Parkinson disease, Retinal detachment, Scoliosis, Shagreen patch, Spina bifida occulta, Thoracic aortic aneurysm and aortic dissection, Tricuspid valve prolapse, Urticaria, Venous insufficiencyView all (26 more) |
|
307
|
|
|
Collagen type VI alpha 1 chain |
BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A |
Amyotrophy, Autism, Bethlem myopathy, Cardiovascular abnormalities, Cholestasis, Congenital clubfoot, Congenital muscular dystrophy, Congenital pectus carinatum, Congenital torticollis, Cryptorchidism, Developmental delay, Diverticular diseases, Elbow flexion contracture, Esotropia, Facial paralysis, Flexion contracture of hip, Flexion contracture of wrist, Heart failure, High palate, Lung neoplasms, Lung cancer, Micrognathism, Miscarriage, Motor delay, Muscular dystrophy, Myopathy, Myopia, Hypotonia, Neurogenic urinary bladder, Phrynoderma, Respiratory failure, Scoliosis, Sensorimotor neuropathy, Sleep apnea, Ullrich congenital muscular dystrophyView all (20 more) |
|
308
|
|
|
Collagen type VI alpha 2 chain |
BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B |
Amyotrophy, Arthritis, Bethlem myopathy, Cardiovascular abnormalities, Congenital clubfoot, Congenital muscular dystrophy, Congenital torticollis, Dwarfism, Dysmorphic features, Elbow flexion contracture, Esotropia, Facial paralysis, High palate, Congenital hip dislocation, Micrognathism, Motor delay, Muscular dystrophy, Myopathy, Myosclerosis, Hypotonia, Osteoarthrosis deformans, Phrynoderma, Respiratory failure, Scoliosis, Thoracolumbar scoliosis, Ullrich congenital muscular dystrophyView all (11 more) |
|
309
|
|
|
Collagen type VI alpha 3 chain |
BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C |
Amyotrophy, Bethlem myopathy, Cardiovascular abnormalities, Congenital clubfoot, Congenital muscular dystrophy, Congenital torticollis, Developmental delay, Dystonia, Elbow flexion contracture, Esotropia, Facial paralysis, High palate, Laryngeal dystonia, Micrognathism, Miscarriage, Motor delay, Muscular dystrophy, Myopathy, Hypotonia, Nephroblastoma, Phrynoderma, Respiratory failure, Scoliosis, Ullrich congenital muscular dystrophy, Wilms tumor, Writer`s crampView all (11 more) |
|
310
|
|
|
Collagen type VII alpha 1 chain |
EBD1, EBDCT, EBR1, NDNC8 |
Acral dystrophic epidermolysis bullosa, Alopecia, Anemia, Ankyloglossia, Aplasia cutis congenita, Boerhaave syndrome, Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma, Cardiomyopathy, Cataract, Centripetalis dystrophic epidermolysis bullosa, Cheilitis, Cockayne-touraine disease, Colorectal cancer, Colorectal neoplasms, Congenital localized absence of skin, Conjunctivitis, Corneal erosion, Dental enamel hypoplasia, Dysmorphic features, Dysphagia, Dystrophic epidermolysis bullosa, Ectropion, Epidermal nevus, Epidermolysis bullosa, Epidermolysis bullosa dystrophica inversa, Epidermolysis bullosa pruriginosa, Epidermolysis bullosa simplex with nail dystrophy, Esophageal stricture, Generalized dominant dystrophic epidermolysis bullosa, Hyperkeratosis, Hyperkeratosis, epidermolytic, Hypoalbuminemia, Ichthyosis, Keratitis, Kidney disease, Lung carcinoma, Malnutrition, Marfan syndrome, Microglossia, Microstomia, Nail diseases, Nail dysplasia, Nail dystrophy, Nonsyndromic congenital nail disorder, Osteopenia, Osteoporosis, Renal insufficiency, Skin carcinoma, Skin erosion, Stenosis of external auditory canal, Syndactyly of fingers, Syndactyly of the toesView all (40 more) |
