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3611
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Mediator complex subunit 13L |
MRFACD, PROSIT240, THRAP2, TRAP240L |
Attention deficit hyperactivity disorder, Autism, Brachycephaly, Cerebral palsy, Clinodactyly, Congenital clubfoot, Congenital ocular coloboma, Corneal astigmatism, Cryptorchidism, Developmental delay, Developmental delay-facial dysmorphism syndrome, Dysarthria, Dysmorphic features, Frontal bossing, Macroglossia, Macrostomia, Macrotia, Mental retardation, Mental retardation and distinctive facial features with or without cardiac defects, Motor delay, Movement disorders, Multiple congenital anomalies, Neurodevelopmental disorders, Patent foramen ovale, Plagiocephaly, Ptosis, Strabismus, Transposition of great vessels, Vesicoureteral refluxView all (14 more) |
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3612
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Activity dependent neuroprotector homeobox |
ADNP1, HVDAS, MRD28 |
Accessory kidney, Adnp syndrome, Agenesis of corpus callosum, Anxiety disorder, Astigmatism, Attention deficit hyperactivity disorder, Autism, Brachycephaly, Brachydactyly, Central visual impairment, Cerebral atrophy, Congenital coloboma of iris, Congenital exomphalos, Congenital hypothyroidism, Congenital omphalocele, Cryptorchidism, Developmental delay, Developmental regression, Dwarfism, Dysmorphic features, Dyssomnia, Esotropia, Exotropia, Gastroesophageal reflux disease, Helsmoortel-van der aa syndrome, Hyperopia, Hypoplasia of corpus callosum, Hypothyroidism, Isolated somatotropin deficiency, Language disorders, Macrocephaly, Mental depression, Mental retardation, Microcephaly, Micrognathism, Microtia, Movement disorders, Multiple congenital anomalies, Neurodevelopmental disorders, Obesity, Obsessive-compulsive disorder, Oropharyngeal dysphagia, Patent foramen ovale, Plagiocephaly, Polydactyly, Prostate cancer, Ptosis, Schizophrenia, Sleep disorders, Social communication disorder, Speech disorders, Stereotyped behavior, Strabismus, Syndactyly of the toes, TrigonocephalyView all (40 more) |
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3613
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Leucyl-tRNA synthetase 2, mitochondrial |
HLASA, LEURS, PRLTS4, mtLeuRS |
Bipolar disorder, Gonadal dysgenesis, Hydrops, lactic acidosis, and sideroblastic anemia, Hypertension, Patent ductus arteriosus, Perrault syndrome, Physiologic amenorrhea, Premature menopause, Schizophrenia, Sideroblastic anemia, Uterine anomalies, Ventricular septal defect |
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3614
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Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma |
LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma |
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3615
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Non-SMC condensin I complex subunit H |
BRRN1, CAP-H, CAPH, MCPH23, NCAPH1 |
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3616
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ATPase cation transporting 13A2 |
CLN12, HSA9947, KRPPD, PARK9, SPG78 |
Akinesia, Anarthria speech disorder, Atherosclerotic parkinsonism, Blepharospasm, Bowel incontinence, Cerebellar ataxia, Cerebellar atrophy, Cerebral cortical atrophy, Dementia, Disorder of eye, Dysarthria, Dyskinetic syndrome, Dysmorphic features, Dysphagia, Hallucinations, Horizontal nystagmus, Hypoplasia of corpus callosum, Impaired cognition, Kufor-rakeb syndrome, Mental depression, Neurogenic urinary bladder, Neuronal ceroid lipofuscinosis, Nystagmus, Parkinson disease, Parkinsonian disease, Psychosis, Ramsay hunt paralysis syndrome, Spastic paraplegia, Spastic quadriplegia, Strabismus, Supranuclear gaze palsy, Upgaze palsyView all (17 more) |
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3617
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Exosome component 2 |
RRP4, Rrp4p, SHRF, hRrp4p, p7 |
Alopecia, Brachydactyly, Cerebellar atrophy, Corneal dystrophy, Dwarfism, Hearing loss, Hypothyroidism, Liver neoplasms, Liver cancer, Mental retardation, Motor delay, Myopia, Posteriorly rotated ear, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Rod-cone dystrophy, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome(shrf)View all (1 more) |
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3618
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Dicer 1, ribonuclease III |
DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE, MNG1, RMSE2, aviD |
Alveolar rhabdomyosarcoma, Hereditary cancer syndrome, Carcinoma, Cerebellar medulloblastoma, Developmental delay, Embryonal rhabdomyosarcoma, Endemic goiter, Endometrioma, Endometriosis, Euthyroid goiter, Euthyroid multinodular goiter, Frontal bossing, Global developmental delay, lung cysts, overgrowth, and wilms tumor, Granulosa cell tumor, Gynandroblastoma, Liver neoplasms, Liver cancer, Macrocephaly, Male germ cell tumor, Maligant granulosa cell tumor of the ovary, Malignant neoplasm, Malignant sertoli-leydig cell tumor of the ovary, Maligant granulosa cell tumor of ovary, Medulloepithelioma, Multinodular goiter, Nephroblastoma, Oligospermia, Ovarian neoplasm, Ovarian thecoma, Papillary thyroid carcinoma, Pilomatrixoma, Pineoblastoma, Pituitary adenoma, Pleuropulmonary blastoma, Pleuropulmonary blastoma tumor susceptibility syndrome, Polyp of large intestine, Renal carcinoma, Rhabdomyosarcoma, Schizophrenia, Seminoma, Sertoli cell neoplasm, Sertoli cell tumor, Sertoli-leydig cell tumor, Sex cord-stromal tumor, Thyroid carcinoma, Thyroid nodule, Wilms tumorView all (32 more) |
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3619
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Coactosin like F-actin binding protein 1 |
CLP |
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3620
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Sirtuin 3 |
SIR2L3 |
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