Human | RTN4 | 57142 | reticulon 4 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | CNTNAP2 | 26047 | contactin associated protein-like 2 | report of a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes |
Human | ACOT7 | 11332 | acyl-CoA thioesterase 7 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GABBR2 | 9568 | gamma-aminobutyric acid (GABA) B receptor, 2 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | LGI1 | 9211 | leucine-rich, glioma inactivated 1 | mutations cause autosomal-dominant partial epilepsy with auditory features No analyzed polymorphisms modified susceptibility in either the familial or sporadic forms of this partial epilepsy A novel F318C substitution alters a highly conserved residue in a predicted repeat domain of LGI1 which may participate in the development of the "autosomal dominant partial epilepsy with auditory features" phenotype In temporal lobe epilepsy, mutations in LGI1 are specific for autosomal dominant partial epilepsy with auditory features {ADPEAF} but do not occur in all families; ADPEAF is genetically heterogeneous |
Human | TP53 | 7157 | tumor protein p53 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | SSTR2 | 6752 | somatostatin receptor 2 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | SLC1A2 | 6506 | solute carrier family 1 (glial high affinity glutamate transporter), member 2 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | RELN | 5649 | reelin | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | PRNP | 5621 | prion protein | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | PDYN | 5173 | prodynorphin | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | NOS1 | 4842 | nitric oxide synthase 1 (neuronal) | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | MDM2 | 4193 | MDM2 oncogene, E3 ubiquitin protein ligase | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | IL1B | 3553 | interleukin 1, beta | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | HTR1A | 3350 | 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GRM1 | 2911 | glutamate receptor, metabotropic 1 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GRIA3 | 2892 | glutamate receptor, ionotropic, AMPA 3 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GRIA2 | 2891 | glutamate receptor, ionotropic, AMPA 2 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GRIA1 | 2890 | glutamate receptor, ionotropic, AMPA 1 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GABRB3 | 2562 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | GABBR1 | 2550 | gamma-aminobutyric acid (GABA) B receptor, 1 | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | EIF2S1 | 1965 | eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa | INFERRED, Score=800, UMLKSK CUI: C0014547 |
Human | DPYSL2 | 1808 | dihydropyrimidinase-like 2 | INFERRED, Score=800, UMLKSK CUI: C0014547 |