|
1901
|
|
|
Protein phosphatase 1 regulatory subunit 21 |
CCDC128, FERRY2, Fy-2, KLRAQ1, NEDHFBA |
|
|
1902
|
|
|
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) |
|
1903
|
|
|
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) |
|
1904
|
|
|
Xin actin binding repeat containing 2 |
CMYA3 |
|
|
1905
|
|
|
Collagen type VIII alpha 1 chain |
C3orf7 |
|
|
1906
|
|
|
Microtubule interacting and trafficking domain containing 1 |
- |
|
|
1907
|
|
|
DIS3 like 3'-5' exoribonuclease 2 |
FAM6A, PRLMNS, hDIS3L2 |
Agenesis of corpus callosum, Aniridia, Cardiovascular abnormalities, Congenital diaphragmatic hernia, Congenital epicanthus, Congenital hypoplasia of penis, Cryptorchidism, Developmental delay, Dolichocephaly, Hernia, femoral, Hyperinsulinism, Hypertension, Interrupted aortic arch, Intestinal volvulus, Liver neoplasms, Lung neoplasms, Macrocephaly, Mental retardation, Micrognathism, Nephroblastoma, Perlman syndrome, Posteriorly rotated ear, Ptosis, Specific learning disorder, Status epilepticus, Strawberry nevus of skinView all (11 more) |
|
1908
|
|
|
Collagen type VIII alpha 2 chain |
FECD, FECD1, PPCD, PPCD2 |
|
|
1909
|
|
|
Contactin associated protein family member 5 |
caspr5 |
|
|
1910
|
|
|
Collagen type IX alpha 1 chain |
DJ149L1.1.2, EDM6, MED, STL4 |
Arthritis, Astigmatism, Cataract, Chondrodystrophic myotonia, Degenerative vitreoretinopathy, Disorder of eye, Dwarfism, Dyschondroplasias, Epiphyseal dysplasia, Hearing loss, Melnick-needles syndrome, Micrognathism, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteochondrodysplasia, Retinal detachment, Retinal diseases, Schmorl`s nodes, Schwartz-jampel syndrome, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Stickler syndrome, Thoracic aortic aneurysm and aortic dissection, Van buchem disease, Vitreoretinal degenerationView all (11 more) |
