Human | KCTD7 | 154881 | potassium channel tetramerization domain containing 7 | EEG shows slowed dysrhythmia and multifocal discharges |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | ALG10 | 84920 | ALG10, alpha-1,2-glucosyltransferase | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | MYOZ2 | 51778 | myozenin 2 | Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias |
Human | PRKAG2 | 51422 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | KCNE4 | 23704 | potassium voltage-gated channel, Isk-related family, member 4 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | KCNE1L | 23630 | KCNE1-like | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1-like | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | KIF1B | 23095 | kinesin family member 1B | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | AKAP9 | 10142 | A kinase (PRKA) anchor protein (yotiao) 9 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | HCN4 | 10021 | hyperpolarization activated cyclic nucleotide-gated potassium channel 4 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | KCNE3 | 10008 | potassium voltage-gated channel, Isk-related family, member 3 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | KCNE2 | 9992 | potassium voltage-gated channel, Isk-related family, member 2 | The accelerated inactivation time course of HERG/MiRP1(V65M) channels may decrease I(Kr) current density of myocardial cells, thereby impairing the ability of myocytes to repolarize in response to sudden membrane depolarizations such as extrasystoles |
Human | NUP155 | 9631 | nucleoporin 155kDa | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | KYNU | 8942 | kynureninase | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | ADAM15 | 8751 | ADAM metallopeptidase domain 15 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | IKBKAP | 8518 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | HBN1 | 8184 | Progressive familial heart block, type I, locus 1 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | CSRP3 | 8048 | cysteine and glycine-rich protein 3 (cardiac LIM protein) | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | PAX8 | 7849 | paired box 8 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | SLC30A1 | 7779 | solute carrier family 30 (zinc transporter), member 1 | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | CNBP | 7555 | CCHC-type zinc finger, nucleic acid binding protein | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | VWF | 7450 | von Willebrand factor | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | INFERRED, Score=800, UMLKSK CUI: C0003811 |
Human | TTN | 7273 | titin | |