|
1561
|
|
|
Cholinergic receptor nicotinic delta subunit |
ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS |
Akinesia, Aplasia of muscle, Breast cancer, Congenital epicanthus, Myasthenic syndrome, Pulmonary hypoplasia, Developmental delay, Dysphagia, Facial paralysis, High palate, Lethal multiple pterygium syndrome, Cystic hygroma, Micrognathism, Multiple pterygium syndrome, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency, Myopathy, Hypotonia, Pena shokeir syndrome, Ptosis, Respiratory failureView all (6 more) |
|
1562
|
|
|
Cholinergic receptor nicotinic epsilon subunit |
ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS |
Arthrogryposis multiplex congenita, Bernard soulier syndrome, Bulbar palsy, Myasthenic syndrome, Developmental delay, Dysarthria, Dysphagia, Facial paralysis, High palate, Macrothrombocytopenia, Malocclusion, Motor delay, Myasthenia gravis, Myopathy, Hypotonia, Ptosis, Respiratory failure, Strabismus, Sudden episodic apnea, Von willebrand disorderView all (5 more) |
|
1563
|
|
|
NLR family pyrin domain containing 3 |
AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1 |
Acne, Amyloid nephropathy, Anemia, Aphthous ulcer, Arthritis, Asbestosis, Autoinflammatory disease, Brachydactyly, Cinca syndrome, Cold autoinflammatory syndrome, Cold urticaria, Congenital anomaly of nose, Conjunctivitis, Cranial nerve paralysis, Crohn disease, Crohn`s disease of large bowel, Crohn`s disease of the ileum, Cryopyrin-associated periodic syndromes, Deafness, Developmental delay, Dwarfism, Episcleritis, Excessive tearing, Frontal bossing, Glaucoma, Hearing loss, Hernia of abdominal wall, Hidradenitis suppurativa, Ichthyosis, Ileocolitis, Keratitis, Keratitis fugax hereditaria, Kidney disease, Macrocephaly, Mental retardation, Migraine, Mouth abnormalities, Muckle-wells syndrome, Multiple sclerosis, Nephrotic syndrome, Neurological, cutaneous and articular syndrome, Optic atrophy, Osteochondrodysplasia, Pericardial effusion, Pleural effusion, Proptosis, Pseudopapilledema, Pyoderma gangrenosum, Renal insufficiency, Retrobulbar neuritis, Skeletal dysplasia, Talipes transversoplanus, Urticaria, Uveitis, VasculitisView all (40 more) |
|
1564
|
|
|
Solute carrier family 22 member 9 |
HOAT4, OAT4, OAT7, UST3H, ust3 |
|
|
1565
|
|
|
Cholinergic receptor nicotinic gamma subunit |
ACHRG |
Abnormal spinal segmentation, Akinesia, Aortic aneurysm, Aplasia of muscle, Arachnodactyly, Arthrogryposis multiplex congenita, Bone disease, Congenital alveolar dysplasia, Camptodactyly, Congenital anomaly of neck, Congenital clubfoot, Congenital diaphragmatic hernia, Dislocated radial head, Congenital epicanthus, Congenital exomphalos, Rib fusion, Pulmonary hypoplasia, Congenital hypoplasia of penis, Myasthenic syndrome, Congenital pectus excavatum, Cryptorchidism, Diaphragmatic eventration, Dolichocephaly, Dwarfism, Dysmorphic features, Exostosis of external ear canal, Hearing loss, High palate, Hypogonadism, Hypoplasia of nipple, Hypospadias, Impaired cognition, Lethal multiple pterygium syndrome, Cystic hygroma, Microcephaly, Micrognathism, Microstomia, Multiple congenital anomalies, Multiple pterygium syndrome, Neck webbing, Nevus, Pena shokeir syndrome, Peripheral neuropathy, Pterygium, Ptosis, Scoliosis, Spina bifida occulta, Strabismus, Syndactyly, Syndactyly of fingers, Vertical talusView all (36 more) |
|
1566
|
|
|
TIR domain containing adaptor protein |
BACTS1, Mal, MyD88-2, wyatt |
|
|
1567
|
|
|
Component of inhibitor of nuclear factor kappa B kinase complex |
BPS2, IKBKA, IKK-1, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16 |
Bone disease, Cocoon syndrome, Anotia, Mandibular aplasia, Congenital anomaly of limb, Congenital omphalocele, Diabetes mellitus, Embryopathy, Fetal diseases, Fetal encasement syndrome, Hypoplasia of lower limb, Microcephaly, Multiple congenital anomalies |
|
1568
|
|
|
Cytoglobin |
HGB, NOD, STAP |
|
|
1569
|
|
|
Polycystin 1 like 2 (gene/pseudogene) |
PC1L2 |
|
|
1570
|
|
|
BTB domain containing 9 |
dJ322I12.1 |
|
