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3631
|
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|
Adaptor related protein complex 4 subunit epsilon 1 |
CPSQ4, SPG51, STUT1 |
Cerebellar atrophy, Cerebral cortical atrophy, Congenital clubfoot, Developmental dysplasia of the hip, Congenital genu recurvatum, Developmental delay, Dwarfism, High palate, Hypoplasia of corpus callosum, Mental retardation, Macrostomia, Mental retardation with spastic paraplegia, Microcephaly, Hypotonia, Nystagmus, Spastic paraplegia, Spastic quadriplegia, Stereotyped behavior, Strabismus, StutteringView all (5 more) |
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3632
|
|
|
G protein-coupled receptor 161 |
RE2 |
Breast carcinoma, Congenital hypoplasia of penis, Cryptorchidism, Developmental delay, Diabetes insipidus, Dwarfism, Hypoglycemia, Hypothyroidism, Isolated somatotropin deficiency, Leukemia, Mental retardation, Physiologic amenorrhea, Pituitary stalk interruption syndrome, Septo-optic dysplasia |
|
3633
|
|
|
TAR DNA binding protein |
ALS10, TDP-43 |
Alopecia, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis with dementia, Amyotrophy, Anxiety disorder, Apraxia, Bulbar palsy, Cerebellar ataxia, Dysarthria, Dyscalculia, Dysphagia, Frontotemporal dementia, Frontotemporal dementia with motor neuron disease, Frontotemporal dementia with tdp43 inclusions, Hallucinations, Laryngospasm, Mental depression, Mood swings, Motor neuron disease, Parkinson disease, Ptosis, Respiratory failure, Sensorineural hearing loss, Stereotyped behavior, Tardbp-related frontotemporal dementiaView all (10 more) |
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3634
|
|
|
Chymotrypsin like elastase 3B |
CBPP, ELA3B |
|
|
3635
|
|
|
Histidyl-tRNA synthetase 2, mitochondrial |
HARSL, HARSR, HO3, HisRS, PRLTS2 |
|
|
3636
|
|
|
Solute carrier family 35 member A3 |
AMRS |
Arthrogryposis multiplex congenita, Arthrogryposis, mental retardation, and seizures, Autism spectrum disorder-epilepsy-arthrogryposis syndrome, Autism, Central nervous system neoplasms, Developmental delay, Glioma, Mental retardation, Microcephaly, Scoliosis |
|
3637
|
|
|
Splicing factor 3b subunit 1 |
Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155 |
Adenocarcinoma, Agranulocytosis, Anemia, Anemia with ringed sideroblasts, Mammary neoplasms, Cataract, Choroidal melanoma, Congenital cataract, Congestive heart failure, Dysplastic granulopoesis, Hypochromic anemia, Inferior lens subluxation, Inflammatory abnormality of the eye, Iris melanoma, Lymphocytic leukemia, Leukemia, Liver carcinoma, Ciliary body melanoma, Malignant mesothelioma, Malignant neoplasm, Melanoma, Myelodysplasia, Myelodysplastic syndrome, Neutropenia, Ocular hypertension, Pancytopenia, Prostatic neoplasms, Prostate cancer, Renal carcinoma, Retinal detachment, Schizophrenia, Thrombocytosis, Bladder carcinoma, Uveal melanomaView all (19 more) |
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3638
|
|
|
ATP binding cassette subfamily B member 10 |
EST20237, M-ABC2, MTABC2 |
|
|
3639
|
|
|
ATP binding cassette subfamily B member 9 |
EST122234, TAPL |
|
|
3640
|
|
|
Folate hydrolase 1 |
FGCP, FOLH, GCP2, GCPII, NAALAD1, PSM, PSMA, mGCP |
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