Human | SLEB5 | 100188798 | Systemic lupus erythematosus, susceptibility to, 5 | |
Human | SLEB4 | 404714 | systemic lupus erythematosus, susceptibility to, 4 | |
Human | GTF2H5 | 404672 | general transcription factor IIH, polypeptide 5 | |
Human | NHLRC1 | 378884 | NHL repeat containing 1 | |
Human | SLEH1 | 170682 | systemic lupus erythematosus with hemolytic anemia 1 | |
Human | C7orf11 | 136647 | | Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair |
Human | OPN4 | 94233 | opsin 4 | an anatomically distinct population of 'giant', melanopsin-expressing ganglion cells in the primate retina that, in addition to being intrinsically photosensitive, are strongly activated by rods and cones |
Human | SLEB3 | 64695 | systemic lupus erythematosus susceptibility 3 | |
Human | FERMT1 | 55612 | fermitin family member 1 | Skin blistering and photosensitivity improve in adulthood |
Human | BANK1 | 55024 | B-cell scaffold protein with ankyrin repeats 1 | |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | No cutaneous photosensitivity |
Human | SLC9A6 | 10479 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | Seizures, tonic-clonic, photosensitive |
Human | ABCG2 | 9429 | ATP-binding cassette, sub-family G (WHITE), member 2 | Certain genetic polymorphisms and/or inhibition of ABCG2 by drugs can enhance the potential risk of photosensitivity |
Human | RECQL4 | 9401 | RecQ protein-like 4 | |
Human | EPM2A | 7957 | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | |
Human | SLEB1 | 7833 | systemic lupus erythematosus susceptibility 1 | |
Human | XPA | 7507 | xeroderma pigmentosum, complementation group A | |
Human | UROS | 7390 | uroporphyrinogen III synthase | |
Human | STAT4 | 6775 | signal transducer and activator of transcription 4 | |
Human | SNRPN | 6638 | small nuclear ribonucleoprotein polypeptide N | |
Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | Typical Severe Myoclonic Epilepsy (SME) and Borderline SME show distinct differences in photoparoxysmal response and gender, which might be caused by some genetic mechanism(s) other than the SCN1A gene mutation |
Human | BRD2 | 6046 | bromodomain containing 2 | Present results support evidence that photoparoxysmal response and Myoclonic Epilepsy, Juvenile share epileptogenic pathways, for which BRD2 might be an underlying susceptibility gene |
Human | PPOX | 5498 | protoporphyrinogen oxidase | |
Human | POLH | 5429 | polymerase (DNA directed), eta | |