Human | LOC100507436 | 100507436 | | Title:|Association:Not Found|Conclusion:Not Found Title:Wide distribution of the MICA-MICB null haplotype in East Asians.|Association:Not Found|Conclusion:The frequency of the MICA-MICB null haplotype was 3.7% on the average, and was strongly associated with HLA-B48 in seven East Asian populations. |
Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | Two different phenotypes exist - severe phenotype (early infantile onset, epileptic encephalopathy and often cardiomyopathy) and mild phenotype (more variable clinical presentation) Cardiomyopathy (severe form) |
Human | SLC25A5P8 | 392301 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | |
Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | |
Human | XIRP1 | 165904 | xin actin-binding repeat containing 1 | Here, we identify Xin, the protein encoded by the human gene 'cardiomyopathy associated 1'(CMYA1) as filamin c binding partner at these specialized structures where the ends of myofibrils are attached to the sarcolemma |
Human | HFE2 | 148738 | hemochromatosis type 2 (juvenile) | The researchers identified a nonsense Q312X mutation in the hemojuvelin gene that increases ferritin levels and leads to juvenile hemochromatosis that is associated with severe cardiomyopathy nonsense mutation (G66X) causes severe juvenile hemochromatosis with fatal cardiomyopathy |
Human | ISM2 | 145501 | isthmin 2 | TAIL1 gene is located on chromosome 14q24.3 within ARVD1 (arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 1) critical region; preliminary evidence suggests that it is expressed in several tissues, showing multiple alternative splicing |
Human | PPARGC1B | 133522 | peroxisome proliferator-activated receptor gamma, coactivator 1 beta | Recent studies have elucidated the function of the PGC-1 coactivators in different tissues and have highlighted the implications of PGC-1 dysregulation in diseases such as diabetes, obesity, cardiomyopathy, or neurodegeneration |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | MUC16 | 94025 | mucin 16, cell surface associated | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | HPS4 | 89781 | Hermansky-Pudlak syndrome 4 | |
Human | MYLK2 | 85366 | myosin light chain kinase 2 | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | MYPN | 84665 | myopalladin | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | |
Human | DTNBP1 | 84062 | dystrobrevin binding protein 1 | |
Human | OBSCN | 84033 | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | HPS6 | 79803 | Hermansky-Pudlak syndrome 6 | |
Human | TMEM43 | 79188 | transmembrane protein 43 | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | FKRP | 79147 | fukutin related protein | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | C20orf7 | 79133 | | INFERRED, Score=800, UMLKSK CUI: C0878544 |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | XYLT2 | 64132 | xylosyltransferase II | INFERRED, Score=800, UMLKSK CUI: C0878544 |