|
12191
|
|
|
Purinergic receptor P2Y14 |
BPR105, GPR105, P2Y14 |
|
|
12192
|
|
|
MAF bZIP transcription factor B |
DURS3, KRML, MCTO |
Aniridia, Blepharophimosis, Blepharospasm, Brachydactyly, Congenital camptodactyly, Congenital clubfoot, Congenital coloboma of iris, Congenital hypoplasia of radius, Developmental delay, Duane retraction syndrome, Duane retraction syndrome with congenital deafness, Duane retraction syndrome with or without deafness, Duane syndrome, Duane-radial ray syndrome, Ectopic kidney, Fundus coloboma, Hearing loss, Hypertension, Hypoplasia of optic disc, Hypoplasia of the maxilla, Kidney disease, Microcephaly, Microcornea, Micrognathism, Multicentric carpo tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy, Neck webbing, Nystagmus, Oculomotor nerve palsy, Osteopenia, Plagiocephaly, Polydactyly, Proptosis, Ptosis, Renal insufficiency, Retinal coloboma, Spina bifida occulta, Stenosis of external auditory canal, StrabismusView all (24 more) |
|
12193
|
|
|
RNA binding motif protein 8A |
BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1 |
Anemia, Atrial septal defect, Axial malrotation of the kidney, Brachycephaly, Camptodactyly of fingers, Carpal synostosis, Dyskeratosis congenita, Eosinophilia, Hearing loss, Heart septal defects, Horseshoe kidney, Meckel diverticulum, Mental retardation, Micrognathism, Motor delay, Pancreatic cyst, Phocomelia, Pulmonary fibrosis and/or bone marrow failure, Scoliosis, Seborrheic dermatitis, Spina bifida, Syndactyly of fingers, Tetralogy of fallot, Thrombocytopenia-absent radius syndromeView all (9 more) |
|
12194
|
|
|
Cell division cycle 25B |
MPIP2 |
|
|
12195
|
|
|
DLEC1 cilia and flagella associated protein |
CFAP81, DLC-1, DLC1, F56, FAP81 |
|
|
12196
|
|
|
Oxidative stress responsive kinase 1 |
OSR1 |
|
|
12197
|
|
|
MAGE family member C1 |
CT7, CT7.1 |
|
|
12198
|
|
|
WD repeat domain 1 |
AIP1, HEL-S-52, NORI-1, PFITS |
|
|
12199
|
|
|
AMMECR nuclear protein 1 |
AMMERC1, MFHIEN |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, Amme complex, Camptodactyly of fingers, Developmental delay, Dwarfism, Elliptocytosis, Esotropia, Hearing loss, Mental retardation, Micrognathism, Microstomia, Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, Myopia, Nephrocalcinosis, Patent ductus arteriosus, Renal glomerular disease, Renal insufficiency, Strabismus, TalipesView all (4 more) |
|
12200
|
|
|
Cell division cycle 25C |
CDC25, PPP1R60 |
|
