|
2911
|
|
|
Ankyrin repeat domain 23 |
DARP, MARP3 |
|
|
2912
|
|
|
Aprataxin and PNKP like factor |
APFL, C2orf13, PALF, Xip1, ZCCHH1 |
|
|
2913
|
|
|
Phosphoinositide kinase, FYVE-type zinc finger containing |
CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29 |
|
|
2914
|
|
|
Elastin |
ADCL1, SVAS, WBS, WS |
Abnormal dermatoglyphic pattern, Abnormal spinal segmentation, Accessory kidney, Acquired kyphoscoliosis, Alveolitis, Aneurysm of aortic arch, Anxiety disorder, Aortic aneurysm, Aortic valve insufficiency, Arachnodactyly, Arnold-chiari malformation, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Bicuspid aortic valve, Bladder diverticulum, Blepharophimosis, Bowel diverticulosis, Camptodactyly of fingers, Cataract, Cerebral cortical atrophy, Cholelithiasis, Chronic obstructive pulmonary disease, Venous malformation, Congenital anomaly of neck, Congenital epicanthus, Congenital exomphalos, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital kyphoscoliosis, Congenital pectus excavatum, Congenital supravalvular aortic stenosis, Congestive heart failure, Cornea plana, Coronary arteriosclerosis, Coronary stenosis, Cryptorchidism, Cutis laxa, Cutis marmorata, Descending aortic dissection, Developmental regression, Diabetes mellitus, Diverticular bleeding, Diverticular diseases, Dwarfism, Dysarthria, Dysgraphia, Dysmorphic features, Dyspnea, paroxysmal, Emphysema, Facioscapulohumeral muscular dystrophy, Food intolerance, Gastroesophageal reflux disease, Glaucoma, Hearing loss, Hypercalcemia, Hypertension, Hypertrophic cardiomyopathy, Hypodontia, Hypogonadotropic hypogonadism, Hypothyroidism, Intracranial aneurysm, Ischemic stroke, Lung diseases, Macroglossia, Macrostomia, Macrotia, Malabsorption syndrome, Mental depression, Mental retardation, Microcephaly, Microdontia, Micrognathism, Mitral valve prolapse, Moyamoya disease, Multiple renal cysts, Myocardial infarction, Myocardial ischemia, Myopathy, Myopia, Nephrocalcinosis, Nephrolithiasis, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive disorder, Osteopenia, Osteoporosis, Osteosclerosis, Otitis media, Overriding aorta, Panacinar emphysema, Patent ductus arteriosus, Pelvic kidney, Peptic ulcer, Peripheral arterial stenosis, Peripheral pulmonary artery stenosis, Phakomatosis pigmentovascularis, Polycystic ovary syndrome, Posterior embryotoxon, Precocious puberty, Pulmonary emphysema, Pulmonary fibrosis, Pulmonary stenosis, Radioulnar synostosis, Rectal prolapse, Renal hypoplasia, Renal insufficiency, Scoliosis, Spina bifida occulta, Strabismus, Stroke, Subarachnoid hemorrhage, Supravalvar aortic stenosis, Tetralogy of fallot, Thoracic aortic aneurysm and aortic dissection, Transient ischemic attack, Ventricular septal defect, Vesicoureteral reflux, Williams syndromeView all (104 more) |
|
2915
|
|
|
Keratinocyte associated protein 3 |
KCP3 |
|
|
2916
|
|
|
Transmembrane protein 17 |
- |
|
|
2917
|
|
|
Sprouty related EVH1 domain containing 2 |
NS14, Spred-2 |
|
|
2918
|
|
|
CFAP20 domain containing |
C3orf67 |
|
|
2919
|
|
|
Lipase H |
AH, ARWH2, HYPT7, LAH2, LPDLR, PLA1B, mPA-PLA1 |
|
|
2920
|
|
|
ARF like GTPase 13B |
ARL2L1, JBTS8 |
Bilateral hypermetropia, Cerebellar vermis agenesis, Ciliopathies, Congenital cerebral hernia, Congenital coloboma of iris, Developmental delay, Diastrophic dysplasia, Disorder of eye, Hirschsprung disease, Hydrocephalus, Joubert syndrome, Keratosis follicularis, Mental retardation, Nystagmus, Obesity, Oculomotor apraxia, Oculovestibuloauditory syndrome, Oral cleft, Polydactyly of toes, Polymicrogyria, Ptosis, Retinal dystrophy, Retinitis pigmentosa, Scoliosis, Situs inversus, StrabismusView all (11 more) |
