|
1151
|
|
|
Polo like kinase 4 |
MCCRP2, SAK, STK18 |
Camptodactyly of fingers, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Chorioretinopathy-microcephaly syndrome, Congenital microcephaly, Craniosynostosis, Developmental delay, Dwarfism, Eye diseases, Glaucoma, Impaired cognition, Malformation of cortical development, Mental retardation, Microcephaly, Microcephaly with chorioretinopathy, Microcornea, Micrognathism, Microlissencephaly, Microphthalmos, Nystagmus, Optic atrophy, Scoliosis, Seckel syndrome, StrabismusView all (11 more) |
|
1152
|
|
|
STAG3 cohesin complex component |
SA3, SPGF61 |
|
|
1153
|
|
|
STAG2 cohesin complex component |
HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B, bA517O1.1 |
Alobar holoprosencephaly, Anxiety disorder, Autism, Benign neoplasm of bladder, Urinary bladder cancer, Bladder neoplasm, Bladder carcinoma, Camptodactyly of fingers, Cerebellar hypoplasia, Congenital epicanthus, Congenital heart defects, Developmental delay, Dwarfism, Dyssomnia, Encephalitis, Ewing sarcoma, Frontal bossing, Glioblastoma, Glioma, Hearing loss, Hypoplasia of corpus callosum, Leukemia, Leukemia, megakaryoblastic, of down syndrome, Leukopenia, Malocclusion, Melanoma, Mental retardation, Microcephaly, Micrognathism, Microtia, Monocytic leukemia, Myelodysplastic syndrome, Myeloid leukemia, Polydactyly, Proptosis, Respiratory failure, Scoliosis, Semilobar holoprosencephaly, Sleep disorders, Lymphoproliferative syndrome, x-linked, Xq25 duplication syndrome, Xq25 triplication syndromeView all (27 more) |
|
1154
|
|
|
SIX homeobox 2 |
- |
Amyotrophic lateral sclerosis, Congenital anomalies of kidney and urinary tract, Dwarfism, Frontal bossing, Frontonasal dysplasia, Kidney disease, Lateral sclerosis, Macrocephaly, Metopic synostosis, Nephroblastoma, Posteriorly rotated ear, Ptosis, Wilms tumor |
|
1155
|
|
|
RFPL1 antisense RNA 1 |
NCRNA00006, RFPL1-AS, RFPL1-AS1, RFPL1AS |
|
|
1156
|
|
|
Retinoic acid induced 1 |
SMCR, SMS |
17p11.2 microduplication syndrome, Adjustment sleep disorder, Anxiety disorder, Apraxia, Attention deficit hyperactivity disorder, Autism spectrum disorder, Autism, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Congenital heart defects, Contiguous gene duplication syndrome, Developmental delay, Diabetes mellitus, Dwarfism, Dysarthria, Dysmorphic features, Dysphasia, Dyssomnia, Eczema, Environmental sleep disorder, Frontal bossing, Gastroesophageal reflux disease, Hearing loss, Hypercholesterolemia, Hypoplasia of corpus callosum, Hypothyroidism, Immune dysfunction with t-cell inactivation, Mental retardation, Limit-setting sleep disorder, Macrostomia, Malocclusion, Melanoma, Microcephaly, Microcornea, Micrognathism, Multiple congenital anomalies, Myopia, Nocturnal eating-drinking syndrome, Obesity, Onychotillomania, Oropharyngeal dysphagia, Otitis media, Parkinson disease, Potocki-lupski syndrome, Precocious puberty, Retinal detachment, Schizophrenia, Scoliosis, Seizure, Sleep apnea, Sleep disorders, Smith-magenis syndrome, Spade-like hand, Speech disorders, Stereotyped behavior, Stereotypy, Strabismus, Syndactyly of the toes, Synophrys, Taurodontism, Velopharyngeal insufficiency, Yuan-harel-lupski syndromeView all (48 more) |
|
1157
|
|
|
Putative homeodomain transcription factor 1 |
PHTF |
|
|
1158
|
|
|
Mitogen-activated protein kinase kinase kinase 2 |
MEKK2, MEKK2B |
|
|
1159
|
|
|
MBL associated serine protease 2 |
MAP-2, MAP19, MASP-2, MASP1P1, sMAP |
|
|
1160
|
|
|
Kinesin family member 1C |
LTXS1, SATX2, SAX2, SPAX2, SPG58 |
Ataxia, Cerebellar atrophy, Cerebral atrophy, Developmental delay, Distal amyotrophy, Dwarfism, Dysarthria, Horizontal nystagmus, Hypodontia, Mental retardation, Microcephaly, Nervous system diseases, Spastic ataxia, Ataxia, spastic with optic atrophy and mental retardation, Spastic paraplegia |
