Human | FAM58A | 92002 | family with sequence similarity 58, member A | Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | C20orf7 | 79133 | | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | BCOR | 54880 | BCL6 corepressor | |
Human | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | |
Human | SLC9A6 | 10479 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | |
Human | IKBKG | 8517 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | An unusual and complex genomic region susceptible to various types of pathogenic and polymorphic rearrangements, including the recurrent lethal deletion associated with the The X-linked dominant and male-lethal disorder incontinentia pigmenti (IP) |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | |
Human | CDKL5 | 6792 | cyclin-dependent kinase-like 5 | |
Human | SLC16A2 | 6567 | solute carrier family 16, member 2 (thyroid hormone transporter) | |
Human | RPS6KA3 | 6197 | ribosomal protein S6 kinase, 90kDa, polypeptide 3 | |
Human | PHEX | 5251 | phosphate regulating endopeptidase homolog, X-linked | |
Human | PDHA1 | 5160 | pyruvate dehydrogenase (lipoamide) alpha 1 | |
Human | NHS | 4810 | Nance-Horan syndrome (congenital cataracts and dental anomalies) | |
Human | NDUFS6 | 4726 | NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (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 | NDUFS2 | 4720 | NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) | |
Human | NDUFS1 | 4719 | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) | |
Human | NDUFA1 | 4694 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa | |
Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | |
Human | LAMP2 | 3920 | lysosomal-associated membrane protein 2 | |