Human | HYLS1 | 219844 | hydrolethalus syndrome 1 | |
Human | ARX | 170302 | aristaless related homeobox | Disorders caused by mutations in the ARX gene include: hydrocephaly, lissencephaly and agenesis of corpus callosum with abnormal genitalia, Partington syndrome S), X-linked infantile spasms , myoclonic epilepsy, and nonspecific mental retardation |
Human | HPE6 | 117190 | holoprosencephaly 6 | |
Human | WNT10A | 80326 | wingless-type MMTV integration site family, member 10A | Congenital absence of nails (anonychia) |
Human | SPG11 | 80208 | spastic paraplegia 11 (autosomal recessive) | Agenesis of the corpus callosum |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | Agenesis of corpus callosum |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | Partial to complete agenesis of corpus callosum |
Human | STRA6 | 64220 | stimulated by retinoic acid 6 | Agenesis of pulmonary vessels |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | Agenesis/hypoplasic corpus collosum |
Human | WNT4 | 54361 | wingless-type MMTV integration site family, member 4 | Congenital absence or severe hypoplasia of the upper two-thirds of vagina Congenital absence or severe hypoplasia of uterus |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | Agenesis of the corpus callosum |
Human | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Agenesis of the corpus callosum Agenesis of the cingulate gyrus |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | Agenesis of the corpus callosum |
Human | CD96 | 10225 | CD96 molecule | Agenesis of the corpus callosum |
Human | SLC12A6 | 9990 | solute carrier family 12 (potassium/chloride transporter), member 6 | KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin Agenesis of the corpus callosum Using a yeast 2-hybrid it was discovered that the C-terminal domain of KCC3, that is lost in most hereditary motor and sensory neuropathy with agenesis of the corpus callosum-causing mutations, directly interacts with brain-specific creatine kinase Title:The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.|Association:Y|Conclusion:Not Found |
Human | ZEB2 | 9839 | zinc finger E-box binding homeobox 2 | Agenesis of the corpus callosum |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | Agenesis/hypoplasic corpus collosum |
Human | TUBA1A | 7846 | tubulin, alpha 1a | Agenesis of the corpus callosum |
Human | TFAP2A | 7020 | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | Agenesis of cerebellar vermis |
Human | HNF1B | 6928 | HNF1 homeobox B | agenesis of the pancreatic body & tail and pancreatic exocrine dysfunction are parts of the phenotype in HNF1B mutation carriers; this strengthens the evidence for a critical role of HNF1B in development and differentiation of at least the dorsal pancreas |
Human | SOX2 | 6657 | SRY (sex determining region Y)-box 2 | Agenesis of corpus callosum |
Human | SH3BP2 | 6452 | SH3-domain binding protein 2 | |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | Agenesis/hypoplasic corpus collosum |
Human | PEX19 | 5824 | peroxisomal biogenesis factor 19 | Agenesis/hypoplasic corpus collosum |
Human | PEX14 | 5195 | peroxisomal biogenesis factor 14 | Agenesis/hypoplasic corpus collosum |