Human | ZEB2 | 9839 | zinc finger E-box binding homeobox 2 | |
Human | PHOX2B | 8929 | paired-like homeobox 2b | |
Human | IKBKAP | 8518 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
Human | PAX8 | 7849 | paired box 8 | |
Human | UBE3A | 7337 | ubiquitin protein ligase E3A | |
Human | CDKL5 | 6792 | cyclin-dependent kinase-like 5 | |
Human | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1, acid lysosomal | |
Human | SLC12A1 | 6557 | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 | |
Human | SLC6A8 | 6535 | solute carrier family 6 (neurotransmitter transporter), member 8 | |
Human | SLC5A5 | 6528 | solute carrier family 5 (sodium/iodide cotransporter), member 5 | |
Human | RET | 5979 | ret proto-oncogene | |
Human | PRNP | 5621 | prion protein | |
Human | MAP2K2 | 5605 | mitogen-activated protein kinase kinase 2 | |
Human | PPOX | 5498 | protoporphyrinogen oxidase | |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | Course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | Course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | |
Human | NRTN | 4902 | neurturin | |
Human | MMP1 | 4312 | matrix metallopeptidase 1 (interstitial collagenase) | Constipation caused by anal blisters |
Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | |
Human | L1CAM | 3897 | L1 cell adhesion molecule | |
Human | KCNJ1 | 3758 | potassium inwardly-rectifying channel, subfamily J, member 1 | |
Human | IGHMBP2 | 3508 | immunoglobulin mu binding protein 2 | |
Human | HMBS | 3145 | hydroxymethylbilane synthase | |
Human | HLA-DQB1 | 3119 | | Presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia |