|
2701
|
|
|
Dihydrolipoamide S-succinyltransferase |
DLTS, KGD2, PGL7, PPGL7 |
Adrenal gland pheochromocytoma, Aniridia, Capillary hemangioma of retina, Congestive heart failure, Cranial nerve compression, Episodic paroxysmal anxiety, Extra-adrenal pheochromocytoma, Glomerulonephritis, Glomerulosclerosis, Hearing loss, Hereditary pheochromocytoma-paraganglioma, Hypercalcemia, Hypertensive retinopathy, Leukemia, Panic disorder, Paraganglioma, Paraganglioma of head and neck, Pheochromocytoma, Pulsatile tinnitus, Renal carcinoma, Sinus tachycardia, Vocal cord paralysisView all (7 more) |
|
2702
|
|
|
Distal-less homeobox 1 |
- |
|
|
2703
|
|
|
Distal-less homeobox 2 |
TES-1, TES1 |
|
|
2704
|
|
|
Distal-less homeobox 3 |
AI4, TDO |
Amelogenesis imperfecta, Amelogenesis imperfecta with taurodontism, Clinodactyly, Dolichocephaly, Frontal bossing, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomineralization of enamel of tooth, Microdontia, Osteosclerosis, Peripheral pulmonary artery stenosis, Taurodontism, Trichodentoosseous syndrome |
|
2705
|
|
|
Distal-less homeobox 4 |
BP1, DLX7, DLX8, DLX9, OFC15 |
|
|
2706
|
|
|
Distal-less homeobox 5 |
SHFM1, SHFM1D |
Alzheimer disease, Aniridia, Bone disease, Ectrodactyly, Hearing loss, Isolated split hand-split foot malformation, Oligodactyly, Split hand foot deformity, Split hand-split foot-deafness syndrome, Split-hand-foot malformation with sensorineural hearing loss, Syndactyly of fingers |
|
2707
|
|
|
Aspartylglucosaminidase |
AGU, ASRG, GA |
Acne, Arthritis, Aspartylglucosaminuria, Brachycephaly, Cataract, Cerebral atrophy, Congenital exomphalos, Congenital pectus carinatum, Developmental regression, Dwarfism, Dyskinetic syndrome, Dyssomnia, Fabry disease, Macroglossia, Macrostomia, Malabsorption syndrome, Malocclusion, Mental retardation, Microcephaly, Microtia, Neutropenia, Otitis media, Pfaundler-hurler syndrome, Schizophrenia, Scoliosis, Skin diseases, vascular, Sleep disorders, Speech disorders, Spondylolisthesis, SpondylolysisView all (15 more) |
|
2708
|
|
|
Distal-less homeobox 6 |
- |
|
|
2709
|
|
|
Deleted in malignant brain tumors 1 |
GP340, SAG, SALSA, muclin |
|
|
2710
|
|
|
Dystrophin |
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85 |
Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Becker muscular dystrophy, Breast cancer, Bronchopulmonary dysplasia, Camptodactyly of fingers, Cardiomyopathy, Colorectal cancer, Congenital pectus excavatum, Congestive heart failure, Developmental delay, Dilated cardiomyopathy, Duchenne and becker muscular dystrophy, Duchenne muscular dystrophy, Embryonal rhabdomyosarcoma, Facial paralysis, Gastrointestinal stromal tumor, Grand mal status epilepticus, Hearing loss, Impaired cognition, Leiomyosarcoma, Lipoatrophy, Lipodystrophy, Macrocephaly, Meckel diverticulum, Mental retardation, Mental retardation, x-linked, Motor delay, Muscular dystrophy, Myocardial diseases, Myopathy, Neurosensory hearing impairment, Non-syndromic intellectual disability, x-linked, Nonconvulsive status epilepticus, Obesity, Palmoplantar keratoderma, Petit mal status, Polycystic ovary syndrome, Proptosis, Ptosis, Respiratory failure, Sclerocystic ovaries, Scoliosis, Seizure, Specific learning disorder, Status epilepticus, Syndactyly of the toes, Temporomandibular joint disorders, Tumoral calcinosisView all (35 more) |
