Human | SLEB5 | 100188798 | Systemic lupus erythematosus, susceptibility to, 5 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | EIG3 | 432400 | Epilepsy, idiopathic generalized, susceptibility to 3 | Epilepsy with grand mal seizures on awakening (EGMA, {607628}) |
Human | SLEB4 | 404714 | systemic lupus erythematosus, susceptibility to, 4 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | NHLRC1 | 378884 | NHL repeat containing 1 | Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy |
Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | EIG2 | 353124 | Epilepsy, idiopathic generalized, susceptibility to 2 | Epilepsy with grand mal seizures on awakening (EGMA, {607628}) |
Human | SLC6A19 | 340024 | solute carrier family 6 (neutral amino acid transporter), member 19 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | TSEN54 | 283989 | TSEN54 tRNA splicing endonuclease subunit | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | ASPM | 259266 | asp (abnormal spindle) homolog, microcephaly associated (Drosophila) | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | MFSD8 | 256471 | major facilitator superfamily domain containing 8 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | STOX1 | 219736 | storkhead box 1 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | SLEH1 | 170682 | systemic lupus erythematosus with hemolytic anemia 1 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | ARX | 170302 | aristaless related homeobox | This study report an case of ombination of infantile spasms, non-epileptic seizures and complex movement disorder on the electroclinical features of a 4-year-old boy with an expansion of the trinucleotide repeat in the ARX gene |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | LGI4 | 163175 | leucine-rich repeat LGI family, member 4 | Title:Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.|Association:Y|Conclusion:A genotypic association was found for the c.1914GC-->AT polymorphism providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region. |
Human | NAGS | 162417 | N-acetylglutamate synthase | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | VPS13B | 157680 | vacuolar protein sorting 13 homolog B (yeast) | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | KCTD7 | 154881 | potassium channel tetramerization domain containing 7 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | PRICKLE1 | 144165 | prickle homolog 1 (Drosophila) | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | TRPM6 | 140803 | transient receptor potential cation channel, subfamily M, member 6 | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | C8orf38 | 137682 | | INFERRED, Score=800, UMLKSK CUI: C0014544 |
Human | NIPA1 | 123606 | non imprinted in Prader-Willi/Angelman syndrome 1 | INFERRED, Score=800, UMLKSK CUI: C0014544 |