|
1791
|
|
|
Progestin and adipoQ receptor family member 4 |
- |
|
|
1792
|
|
|
Chromodomain Y like 2 |
PCCP1 |
|
|
1793
|
|
|
ATP binding cassette subfamily C member 2 |
ABC30, CMOAT, DJS, MRP2, cMRP |
Alopecia, Alopecia, male pattern, Androgenetic alopecia, Biliary cirrhosis, Carcinoma of the head and neck, Cholestasis, Cholestasis of pregnancy, Clonic seizures, Colorectal cancer, Colorectal neoplasms, Conjugated hyperbilirubinemia, Dubin-johnson syndrome, Esophagus neoplasm, Functional gastrointestinal disorders, Gastrointestinal diseases, Grand mal status epilepticus, Heart diseases, Hyperbilirubinemia, Hypotonic seizures, Jacksonian seizure, Jaundice, Nervous system disorder, Non-alcoholic fatty liver disease, Nonconvulsive status epilepticus, Petit mal status, Pseudopelade, Pseudoxanthoma elasticum, Rheumatoid arthritis, Biliary cholangitis, Seizure, Status epilepticusView all (16 more) |
|
1794
|
|
|
Ankyrin repeat and sterile alpha motif domain containing 3 |
- |
|
|
1795
|
|
|
Septin 12 |
SEPT12, SPGF10 |
|
|
1796
|
|
|
Transmembrane protein 219 |
IGFBP-3R, IGFBP3R |
|
|
1797
|
|
|
Glutamyl-tRNA synthetase 2, mitochondrial |
COXPD12, MSE1, gluRS, mtGlnRS, mtGluRS |
Combined oxidative phosphorylation deficiency, Developmental delay, Developmental regression, Dysplastic corpus callosum, Epilepsy, High palate, Hypoplasia of corpus callosum, Leukoencephalopathy, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Hypotonia, Ptosis, Seizure, Spastic tetraparesis |
|
1798
|
|
|
Sorting nexin 20 |
SLIC1 |
|
|
1799
|
|
|
Methyltransferase 23, arginine |
C17orf95, MRT44 |
Absence of septum pellucidum, Autism, Central visual impairment, Cerebral atrophy, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dysmorphic features, Dyssomnia, Hypoplasia of corpus callosum, Impaired cognition, Mental retardation, Mental depression, Microcephaly, Motor delay, Multiple congenital anomalies, Non-syndromic intellectual disability, Polymicrogyria, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (7 more) |
|
1800
|
|
|
Musashi RNA binding protein 2 |
MSI2H |
|