|
1451
|
|
|
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
AIBP63, BLOC2S2 |
|
|
1452
|
|
|
Programmed cell death 10 |
CCM3, TFAR15 |
Cavernous hemangioma of retina, Cerebral arteriovenous malformation, Cerebral cavernous malformation, Venous malformation, Hemangioma of choroid, Hemangioma, cavernous, Impaired cognition, Meningioma, Neuroma, Scoliosis, Skin diseases, vascular |
|
1453
|
|
|
Ring finger protein 139 |
HRCA1, RCA1, TRC8 |
|
|
1454
|
|
|
Egl-9 family hypoxia inducible factor 2 |
EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1 |
|
|
1455
|
|
|
Egl-9 family hypoxia inducible factor 3 |
HIFP4H3, HIFPH3, PHD3 |
|
|
1456
|
|
|
Chimerin 2 |
ARHGAP3, BCH, CHN2-3, RHOGAP3 |
|
|
1457
|
|
|
Peptidyl arginine deiminase 2 |
PAD-H19, PAD2, PDI2 |
|
|
1458
|
|
|
Polyamine modulated factor 1 |
- |
|
|
1459
|
|
|
Neurexophilin 4 |
NPH4 |
|
|
1460
|
|
|
Proline rich transmembrane protein 2 |
BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC |
Anxiety disorder, Benign epilepsy, Choreoathetosis, Convulsions and choreoathetosis, Dyskinesia, Dyskinetic syndrome, Dysphasia, Dystonia, Epilepsy, Episodic kinesigenic dyskinesia, Paroxysmal kinesigenic choreoathetosis, Focal seizures, Focal sensory seizure, Hallucinations, Hearing loss, Hemiplegia/hemiparesis, Hemiplegic migraine, Infantile convulsions and choreoathetosis, Mental retardation, Orofacial dyskinesia, Migraine, Movement disorders, Nystagmus, Paroxysmal kinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia, Retinitis pigmentosa, Seizure, Specific learning disorder, Speech disorders, Stereotyped behavior, Trismus, Writer`s crampView all (17 more) |