|
121
|
|
|
Rho related BTB domain containing 2 |
DBC2, DEE64, EIEE64, p83 |
Cerebellar hypoplasia, Cerebral cortical atrophy, Congenital epicanthus, Developmental delay, Developmental regression, Epileptic encephalopathy, Hypoplasia of corpus callosum, Macrotia, Mental retardation, Micrognathism, Movement disorders, Nervous system diseases, Phakomatosis pigmentovascularis, Renal carcinoma, Rett syndrome, Status epilepticus, Syndactyly of the toesView all (2 more) |
|
122
|
|
|
Regulation of nuclear pre-mRNA domain containing 2 |
HSPC099, KIAA0460 |
|
|
123
|
|
|
RPGRIP1 like |
COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134 |
Agenesis of corpus callosum, Anencephaly, Cataract, Cerebellar diseases, Cerebellar vermis agenesis, Ciliary dyskinesia, Ciliopathies, Cirrhosis, Coloboma of optic disc, Asplenia, Congenital cerebral hernia, Congenital coloboma of iris, Congenital hepatic fibrosis, Congenital ocular coloboma, Cryptorchidism, Cystic liver disease, Dandy-walker syndrome, Developmental delay, Diabetes mellitus, Disorder of eye, Double ureter, Fibrosis of pancreas, Foot polydactyly, Fundus coloboma, Hirschsprung disease, Hydrocephalus, Hypertension, Joubert syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, Joubert syndrome with renal defect, Kidney disease, Liver neoplasms, Liver failure, Liver fibrosis, Lobar holoprosencephaly, Macrocephaly, Macrostomia, Male pseudohermaphroditism, Malformation of cortical development, Meckel syndrome, Meckel-gruber syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multicystic renal dysplasia, Multiple small medullary renal cysts, Nephronophthisis, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oral cleft, Pancreatic cyst, Polycystic liver disease, Polydactyly, Polymicrogyria, Portal hypertension, Ptosis, Renal cyst, Renal insufficiency, Retinal coloboma, Retinal dystrophy, Sclerocornea, Scoliosis, Situs inversus, Sleep apnea, Strabismus, Syndromic microphthalmia, Talipes, True hermaphroditism, Postaxial hand polydactyly, Urethral atresia, VitiligoView all (62 more) |
|
124
|
|
|
RIMS binding protein 2 |
PPP1R133, RBP2, RIM-BP2 |
|
|
125
|
|
|
Ribosomal protein L13a |
L13A, TSTA1, uL13 |
|
|
126
|
|
|
RNA binding fox-1 homolog 2 |
FOX2, Fox-2, HNRBP2, HRNBP2, RBM9, RTA, dJ106I20.3, fxh |
|
|
127
|
|
|
RASD family member 2 |
Rhes, TEM2 |
|
|
128
|
|
|
RAB38, member RAS oncogene family |
NY-MEL-1, rrGTPbp |
|
|
129
|
|
|
Ribonuclease H1 |
H1RNA, PEOB2, RNH1 |
Cardiomyopathy, Cerebellar atrophy, External ophthalmoplegia with mitochondrial myopathy, Dysarthria, Dysphagia, Esotropia, External ophthalmoplegia, High palate, Migraine, Progressive external ophthalmoplegia, Progressive external ophthalmoplegia with mitochondrial dna deletions, Ptosis, Retinitis pigmentosa, Scoliosis, Sensorimotor neuropathy |
|
130
|
|
|
RPTOR independent companion of MTOR complex 2 |
AVO3, PIA, hAVO3 |
|
