Orphanet: Wyszukaj gen
Wyszukaj gen
120 Wyniki
- ATP binding cassette subfamily B member 11 - ABCB11
- ATP binding cassette subfamily B member 4 - ABCB4
- ATP binding cassette subfamily C member 2 - ABCC2
- ATP binding cassette subfamily D member 1 - ABCD1
- amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase - AGL
- aldo-keto reductase family 1 member D1 - AKR1D1
- aminolevulinate dehydratase - ALAD
- 5'-aminolevulinate synthase 2 - ALAS2
- aldolase, fructose-bisphosphate B - ALDOB
- alpha-methylacyl-CoA racemase - AMACR
- ATPase copper transporting beta - ATP7B
- ATPase phospholipid transporting 8B1 - ATP8B1
- bile acid-CoA:amino acid N-acyltransferase - BAAT
- B cell receptor associated protein 31 - BCAP31
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone - BCS1L
- biliverdin reductase A - BLVRA
- bone morphogenetic protein 6 - BMP6
- coiled-coil and C2 domain containing 2A - CC2D2A
- CEA cell adhesion molecule 3 - CEACAM3
- CEA cell adhesion molecule 6 - CEACAM6
- CF transmembrane conductance regulator - CFTR
- chloride channel accessory 4 - CLCA4
- claudin 1 - CLDN1
- coproporphyrinogen oxidase - CPOX
- cytochrome P450 family 27 subfamily A member 1 - CYP27A1
- cytochrome P450 family 51 subfamily A member 1 - CYP51A1
- cytochrome P450 family 7 subfamily B member 1 - CYP7B1
- doublecortin domain containing 2 - DCDC2
- dynactin subunit 4 - DCTN4
- deoxyguanosine kinase - DGUOK
- DAZ interacting zinc finger protein 1 like - DZIP1L
- endothelin receptor type A - EDNRA
- epoxide hydrolase 1 - EPHX1
- fumarylacetoacetate hydrolase - FAH
- ferrochelatase - FECH
- ferritin heavy chain 1 - FTH1
- glucose-6-phosphatase catalytic subunit 1 - G6PC1
- UDP-galactose-4-epimerase - GALE
- galactose-1-phosphate uridylyltransferase - GALT
- 1,4-alpha-glucan branching enzyme 1 - GBE1
- glutamate-cysteine ligase catalytic subunit - GCLC
- G elongation factor mitochondrial 1 - GFM1
- glycerol-3-phosphate dehydrogenase 1 - GPD1
- glutathione S-transferase mu 3 - GSTM3
- hepcidin antimicrobial peptide - HAMP
- homeostatic iron regulator - HFE
- hemojuvelin BMP co-receptor - HJV
- hydroxymethylbilane synthase - HMBS
- heme oxygenase 1 - HMOX1
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 - HSD3B7
- isoleucyl-tRNA synthetase 1 - IARS1
- inositol polyphosphate-5-phosphatase E - INPP5E
- jagged canonical Notch ligand 1 - JAG1
- potassium calcium-activated channel subfamily N member 4 - KCNN4
- leucyl-tRNA synthetase 1 - LARS1
- lipase A, lysosomal acid type - LIPA
- LDL receptor related protein 5 - LRP5
- methionyl-tRNA synthetase 1 - MARS1
- macrophage migration inhibitory factor - MIF
- mitochondrial inner membrane protein MPV17 - MPV17
- myosin VB - MYO5B
- NBAS subunit of NRZ tethering complex - NBAS
- NIMA related kinase 8 - NEK8
- notch receptor 2 - NOTCH2
- nephrocystin 3 - NPHP3
- nuclear receptor subfamily 1 group H member 4 - NR1H4
- peroxisomal biogenesis factor 1 - PEX1
- peroxisomal biogenesis factor 10 - PEX10
- peroxisomal biogenesis factor 11 beta - PEX11B
- peroxisomal biogenesis factor 12 - PEX12
- peroxisomal biogenesis factor 13 - PEX13
- peroxisomal biogenesis factor 14 - PEX14
- peroxisomal biogenesis factor 16 - PEX16
- peroxisomal biogenesis factor 19 - PEX19
- peroxisomal biogenesis factor 2 - PEX2
- peroxisomal biogenesis factor 26 - PEX26
- peroxisomal biogenesis factor 3 - PEX3
- peroxisomal biogenesis factor 5 - PEX5
- peroxisomal biogenesis factor 6 - PEX6
- phosphorylase kinase regulatory subunit alpha 2 - PHKA2
- phosphorylase kinase regulatory subunit beta - PHKB
- phosphorylase kinase catalytic subunit gamma 2 - PHKG2
- phosphatidylinositol glycan anchor biosynthesis class A - PIGA
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin - PKHD1
- DNA polymerase gamma, catalytic subunit - POLG
- protoporphyrinogen oxidase - PPOX
- protein kinase C substrate 80K-H - PRKCSH
- glycogen phosphorylase L - PYGL
- RAD50 interactor 1 - RINT1
- RPGRIP1 like - RPGRIP1L
- SCY1 like pseudokinase 1 - SCYL1
- SEC63 homolog, protein translocation regulator - SEC63
- serpin family A member 1 - SERPINA1
- SH2B adaptor protein 3 - SH2B3
- solute carrier family 10 member 1 - SLC10A1
- solute carrier family 11 member 1 - SLC11A1
- solute carrier family 25 member 13 - SLC25A13
- solute carrier family 26 member 9 - SLC26A9
- solute carrier family 27 member 5 - SLC27A5
- solute carrier family 2 member 2 - SLC2A2
- solute carrier family 37 member 4 - SLC37A4
- solute carrier family 40 member 1 - SLC40A1
- solute carrier family 6 member 14 - SLC6A14
- solute carrier family 9 member A3 - SLC9A3
- solute carrier organic anion transporter family member 1B1 - SLCO1B1
- solute carrier organic anion transporter family member 1B3 - SLCO1B3
- sphingomyelin phosphodiesterase 1 - SMPD1
- SP110 nuclear body protein - SP110
- syntaxin 1A - STX1A
- transferrin receptor 2 - TFR2
- transforming growth factor beta 1 - TGFB1
- tight junction protein 2 - TJP2
- transmembrane protein 67 - TMEM67
- tRNA mitochondrial 2-thiouridylase - TRMU
- twinkle mtDNA helicase - TWNK
- UDP glucuronosyltransferase family 1 member A1 - UGT1A1
- uroporphyrinogen decarboxylase - UROD
- UTP4 small subunit processome component - UTP4
- VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog - VIPAS39
- VPS33B late endosome and lysosome associated - VPS33B
