|
1891
|
|
|
Charged multivesicular body protein 4B |
C20orf178, CHMP4A, CTPP3, CTRCT31, SNF7, SNF7-2, Shax1, VPS32B, Vps32-2, dJ553F4.4 |
|
|
1892
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class U |
CDC91L1, GAB1, GPIBD21, NEDBSS, PIG-U |
Cerebellar hypoplasia, Cerebral atrophy, Colonic neoplasms, Colorectal adenoma, Colorectal cancer, Colorectal neoplasms, Developmental delay, Focal myoclonic seizures, Malignant melanoma of skin, Melanoma, Mental retardation, Nasopharyngeal carcinoma, Scoliosis |
|
1893
|
|
|
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) |
|
1894
|
|
|
Chromosome 22 open reading frame 39 |
Pants |
|
|
1895
|
|
|
Transport and golgi organization 2 homolog |
C22orf25, MECRCN |
Anemia, Brain atrophy, Cardiovascular diseases, Cerebellar atrophy, Cerebral atrophy, Developmental delay, Developmental regression, Dysarthria, Exotropia, Hearing loss, Hypoglycemia, Hypothyroidism, Intermittent lactic acidemia, Ketonuria, Mental retardation, Oropharyngeal dysphagia, Ventricular fibrillationView all (2 more) |
|
1896
|
|
|
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) |
|
1897
|
|
|
Small G protein signaling modulator 1 |
RUTBC2 |
|
|
1898
|
|
|
EMI domain containing 1 |
EMI5, EMU1 |
|
|
1899
|
|
|
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, Hypotonia, Lung cancer, Lung neoplasms, Micrognathism, Miscarriage, Motor delay, Muscular dystrophy, Myopathy, Myopia, Neurogenic urinary bladder, Phrynoderma, Respiratory failure, Scoliosis, Sensorimotor neuropathy, Sleep apnea, Ullrich congenital muscular dystrophyView all (20 more) |
|
1900
|
|
|
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) |
