Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | C8orf38 | 137682 | | |
Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | Results suggest a broader clinical heterogeneity related to LRRK2 mutations |
Human | SEPN1 | 57190 | selenoprotein N, 1 | Clinical heterogeneity of multiminicore disease (see {255320} and {607552}) |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | In adult-onset autoimmune diabetes, the PTPN22 1858T variant is associated only with a high GADA titer, providing evidence of a genetic background to clinical heterogeneity identified by GADA titer |
Human | EIF2AK3 | 9451 | eukaryotic translation initiation factor 2-alpha kinase 3 | Genetic heterogeneity between this variant form of WRS and EIF2AK3 WRS correlates with some clinical heterogeneity |
Human | SURF1 | 6834 | surfeit 1 | |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | |
Human | CCL2 | 6347 | chemokine (C-C motif) ligand 2 | The present study suggests that the MCP1 promoter -2518 polymorphism may not confer susceptibility to BID itself, but could have an influence on the clinical heterogeneity of BID, at least in the Korean population Role of the MCP-1 promoter -2518 polymorphism in clinical heterogeneity of schizophrenia |
Human | RPGR | 6103 | retinitis pigmentosa GTPase regulator | This report expands the clinical heterogeneity spectrum caused by RPGR mutations and our knowledge concerning the molecular pathologic condition that pertains to Coats'-like RP |
Human | PSEN1 | 5663 | presenilin 1 | Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene |
Human | NOTCH4 | 4855 | notch 4 | NOTCH4 is not a significant susceptibility gene for schizophrenia when clinical heterogeneity is ignored; however, NOTCH4 may be associated with early-onset schizophrenia or schizophrenia with many negative symptoms |
Human | NDUFS8 | 4728 | NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) | |
Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | |
Human | NDUFV1 | 4723 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | |
Human | NDUFS3 | 4722 | NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) | |
Human | NDUFA2 | 4695 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa | |
Human | HLA-DQB1 | 3119 | | a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet |
Human | HLA-DMB | 3109 | | HLA-DMB may play an important role in pathogenesis of type 1 diabetes, and clinical status heterogeneity of type 1 diabetes may be related to genetic mechanism |
Human | HLA-DMA | 3108 | | HLA-DMA may play an important role in pathogenesis of type 1 diabetes, and clinical status heterogeneity of type 1 diabetes may be related to genetic mechanism |
Human | GRN | 2896 | granulin | Clinical heterogeneity is associated with GRN haploinsufficiency, and genetic variability on the wild-type GRN allele might have a role in the age-related disease penetrance of GRN mutations |
Human | GCH1 | 2643 | GTP cyclohydrolase 1 | |
Human | GAA | 2548 | glucosidase, alpha; acid | The clinical heterogeneity of Pompe disease is explained by the kind and severity of mutations in the GAA gene with 107 sequence variations (95 being novel) discovered; but secondary factors, as yet unknown, have a substantial impact |
Human | MECOM | 2122 | MDS1 and EVI1 complex locus | Genetic alterations such as aberrant expression of the EVI1 gene may contribute to the clinical heterogeneity of chronic myeloid leukemia |
Human | DLD | 1738 | dihydrolipoamide dehydrogenase | |