|
1491
|
|
|
4-hydroxy-2-oxoglutarate aldolase 1 |
C10orf65, DHDPS2, DHDPSL, HP3, NPL2 |
|
|
1492
|
|
|
Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B |
GNT-IV, GNT-IVB |
|
|
1493
|
|
|
Polynucleotide kinase 3'-phosphatase |
AOA4, CMT2B2, EIEE10, MCSZ, PNK |
Acquired kyphoscoliosis, Ataxia-oculomotor apraxia, Autism, Cerebellar atrophy, Charcot-marie-tooth disease, Choreoathetosis, Chromosome instability syndromes, Clonic seizures, Congenital exomphalos, Congenital kyphoscoliosis, Congenital microcephaly, Development disorder, Developmental delay, Developmental regression, Distal muscular atrophy, Dna repair-deficiency disorders, Dysarthria, Dyscalculia, Dyskinetic syndrome, Dyslexia, Dyssomnia, Epileptic encephalopathy, Episodic ataxia, Febrile seizures, Focal seizures, Hypoplasia of corpus callosum, Hypotonic seizures, Impaired cognition, Mental retardation, Jacksonian seizure, Microcephaly, Microcephaly, seizures, and developmental delay, Microlissencephaly, Motor delay, Movement disorders, Muscular dystrophy, Nervous system diseases, Obesity, Oculomotor apraxia, Oculovestibuloauditory syndrome, Pachygyria, Penis agenesis, Precocious puberty, Quadriplegia, Renal dysplasia, Seizure, Sensorimotor neuropathy, Sleep disorders, Strabismus, Ureterocele, Ventricular septal defect, West syndromeView all (37 more) |
|
1494
|
|
|
Beta-1,4-galactosyltransferase 7 |
EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1 |
Acquired kyphoscoliosis, Aortic valve sclerosis, Arachnodactyly, Congenital epicanthus, Short clavicles, Congenital kyphoscoliosis, Congenital pectus carinatum, Cryptorchidism, Cutis laxa, Developmental delay, Dwarfism, Ehlers-danlos syndrome, Gingivitis, Larsen syndrome, Lipodystrophy, Macrocephaly, Microstomia, Osteochondrodysplasia, Osteopenia, Proptosis, Pulmonary stenosis, Radioulnar synostosis, Skeletal dysplasia, Spermatic cord torsion, Spondylodysplastic ehlers-danlos syndromeView all (10 more) |
|
1495
|
|
|
TP53 regulating kinase |
BUD32, C20orf64, GAMOS4, Nori-2, Nori-2p, PRPK, TPRKB, dJ101A2 |
Aqueductal stenosis, Cerebellar hypoplasia, Cerebral atrophy, Developmental delay, Dwarfism, Galloway-mowat syndrome, Glomerulonephritis, Glomerulosclerosis, Hemiplegia/hemiparesis, Hiatal hernia, Impaired cognition, Kidney disease, Macrotia, Mesangial sclerosis, Microcephaly, Micrognathism, Nephrotic syndrome, Pachygyria, PolymicrogyriaView all (4 more) |
|
1496
|
|
|
SAGA complex associated factor 29 |
CCDC101, STAF36, TDRD29 |
|
|
1497
|
|
|
Cholinergic receptor muscarinic 2 |
HM2 |
Asymmetric diabetic proximal motor neuropathy, Autoimmune diabetes, Bipolar disorder, Diabetes mellitus, Brittle diabetes mellitus, Diabetic amyotrophy, Diabetic asymmetric polyneuropathy, Diabetic autonomic neuropathy, Diabetic mononeuropathy, Diabetic nephropathy, Diabetic neuralgia, Diabetic polyneuropathy, Epilepsy, Esophagus neoplasm, Mental depression, Mood disorder, Neurogenic urinary bladder, Schizophrenia, Symmetric diabetic proximal motor neuropathyView all (4 more) |
|
1498
|
|
|
Nucleus accumbens associated 1 |
BEND8, BTBD14B, BTBD30, NAC-1, NAC1, NECFM |
Benign neoplasm, Brachycephaly, Camptodactyly of fingers, Cataract, Cerebral atrophy, Congenital pectus excavatum, Developmental delay, Infantile spasms, Malignant neoplasm, Mental retardation, Microcephaly, Myoclonic seizures, Neoplasms, Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, Neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract, Oropharyngeal dysphagia, Scoliosis, Sleep apnea, Stereotyped behaviorView all (4 more) |
|
1499
|
|
|
Adenylate cyclase 7 |
AC7 |
Ankylosing spondylitis, Arthritis, Autoimmune diseases, Autoimmune thyroiditis, Celiac disease, Common variable immunodeficiency, Crohn disease, Diabetes mellitus, Hypothyroidism, Inflammatory bowel disease, Juvenile arthritis, Leukemia, Lupus erythematosus, Mental depression, Mood disorder, Myeloid leukemia, Seronegative polyarthritis, Polyarthritis, rheumatoid factor positive, Psoriasis, Schizophrenia, Still disease, Ulcerative colitisView all (7 more) |
|
1500
|
|
|
Lysosomal trafficking regulator |
CHS, CHS1, Mauve |
Albinism, Anemia, Atrial septal defect, Cerebellar atrophy, Chediak-higashi syndrome, Cranial nerve paralysis, Developmental delay, Developmental regression, Gingivitis, Hypopigmentation disorder, Immunologic deficiency syndromes, Leukopenia, Lupus erythematosus, Lymphoma, Melanocytic nevus, Mental retardation, Movement disorders, Nervous system diseases, Neutropenia, Nystagmus, Ocular albinism, Parkinson disease, Periodontitis, Spastic paraplegia, StrabismusView all (10 more) |
