|
481
|
|
|
Heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 |
D10S102, FBRNP, HNRPA3, HNRPA3P1 |
|
|
482
|
|
|
Plexin C1 |
CD232, PLXN-C1, VESPR |
|
|
483
|
|
|
Tripartite motif containing 28 |
KAP1, PPP1R157, RNF96, TF1B, TIF1B, TIF1beta |
|
|
484
|
|
|
Aminoadipate-semialdehyde synthase |
LKR/SDH, LKRSDH, LORSDH |
Alpha-aminoadipic semialdehyde deficiency disease, Anemia, Citrullinemia, Dwarfism, Ectopia lentis, Histidine transport defect, Hyperlysinemia, Impaired cognition, Spastic diplegia, Lysine alpha-ketoglutarate reductase deficiency disease, Mental retardation, Periodic hyperlysinemia, Saccharopinuria, Urogenital abnormalities |
|
485
|
|
|
PDZK1 interacting protein 1 |
DD96, MAP17, SPAP |
|
|
486
|
|
|
ATPase H+ transporting accessory protein 2 |
(P)RR, APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS |
Agraphesthesia, Apraxia, Cerebellar atrophy, Cerebral atrophy, Cirrhosis, Hypoplasia of corpus callosum, Hypotonic seizures, Left ventricular hypertrophy, Mental retardation, Mental retardation, x-linked, Motor delay, Obesity, Parkinson disease, Parkinsonism-spasticity syndrome, x-linked, Scoliosis, Seizure, Mental retardation with epilepsy,x-linkedView all (2 more) |
|
487
|
|
|
Cadherin 18 |
CDH14, CDH14L, CDH24 |
|
|
488
|
|
|
FERM, ARH/RhoGEF and pleckstrin domain protein 1 |
CDEP, FARP1-IT1, GLCC1, PLEKHC2, PPP1R75 |
|
|
489
|
|
|
Lysophosphatidic acid receptor 6 |
ARWH1, HYPT8, LAH3, LPA-6, P2RY5, P2Y5 |
|
|
490
|
|
|
Solute carrier family 25 member 13 |
ARALAR2, CITRIN, CTLN2, NICCD |
Anemia, Cataract, Cirrhosis, Citrin deficiency, Citrullinemia, Delayed menarche, Delirium, Delusions, Developmental delay, Fatty liver, Hallucinations, Hepatic encephalopathy, Hyperbilirubinemia, Hypercholesterolemia, Hyperlysinemia, Hypoalbuminemia, Hypoproteinemia, Intrahepatic cholestasis, Ketonuria, Liver carcinoma, Liver fibrosis, Manic disorder, Pancreatitis, Physiologic amenorrhea, Psychosis, TyrosinemiaView all (11 more) |