Akromatopsi |
CNGA3 |
Akral lemlæstelsessyndrom |
GDNF, |
Dødelig acrodermatitis |
MKLN1, |
Afibinogenæmi |
FGA, |
Albinisme |
SLC45A2, OCA2, TYR, |
Amelogenesis Imperfecta |
ACPT, ENAM, |
Ataksi |
HACE1, KCNIP4, RAB24, KCNJ10, SEL1L, CAPN1, SCN8A, SPTBN2, PNPLA8, |
Bardet-Biedl syndrom |
BBS2, BBS4, |
Blødning |
P2RY12, |
Brachycephalic luftvejssyndrom |
BMP3, |
Kardiomyopati |
YARS2, PLN, |
Grå stær |
HSF4, |
Centronukleær myopati |
DNM2, |
Cerebellar dysfunktion (3 defekter) |
SNX14, SLC25A12, VLDLR, |
Ciliær dyskinesi |
NME5, CCDC39, |
Ganespalte |
ADAMTS20, |
Cobalamin malabsorption |
CUBN, |
Svært kombineret immundefektsyndrom (SCID) |
PRKDC, RAG1, IL2RG, |
C3-mangel |
C3, |
Kraniomandibulær osteopati |
SLC37A2, |
Cystinuri |
SLC3A1, SLC7A9, |
Døvhed |
LOXHD1, |
Bilateral døvhed |
MYO7A, |
Hyperkeratose |
FAM83G, DSG1, |
Degenerativ myelopati |
SOD1, |
Dværgvækst |
LHX3, POU1F1, PRKG2, GH1, |
Paroksysmal dyskinesi |
PIGN, |
Ektodermal dysplasi (ED) |
PKP1, EDA, |
Ehlers-Danlos syndrom |
ADAMTS2, COL5A1, COL5A2, TNXB, |
Ellipticocytose |
SPTB, |
Epidermolyse Bullosa |
LAMB3, LAMA3, PLEC, COL7A1, SLC5A5, |
Epilepsi, idiopatisk |
DIRAS1, PITRM1, |
Træningsinduceret kollaps |
DNM1, |
anstrengelsesmyopati |
ACADVL, |
Lupoid dermatose (LD) |
UNC93B1, |
Fucosidosis |
FUCA1, |
Gangliosidose |
HEXB, GLB1, HEXA, |
Musladin-Lueke syndrom |
ADAMTSL2, |
Grøn stær |
ADAMTS10, ADAMTS17, |
Glykogenopbevaringssygdom |
G6PC, AGL, PFKM, |
Hæmofili |
F8, F9, |
Hyperekpleksi |
SLC6A5, |
Hyperoxaluri, type 1 |
AGXT, |
Ondartet hypertermi |
RYR1, |
Hyperurikosuri |
SLC2A9, |
Tandhypomineralisering |
FAM20C, |
Hypomyelinisering af centralnervesystemet |
FNIP2, |
Hypofosfatasi |
ALPL, |
Hypothyroidisme |
TPO, |
Medfødt hypotrikose |
SGK3, |
Iktyose |
NIPAL4, SLC27A4, KRT10, ASPRV1, ABHD5, Inflammatorisk lungesygdom |
Verrucous epidermal keratocytisk Nevi (VEKN) |
NSDHL, |
Tørre øjne |
FAM83H, |
Krabbes sygdom |
GALC, |
Leukocytadhæsionsmangel |
ITGB2, FERMT3, |
Leukodystrofi |
GFAP, |
Leukodystrofi |
TSEN54, |
Lipofuscinose (NCL) |
CLN5, ARSG, CTSD, PPT1, CLN6, CLN8, ATP13A2, Lundesygdom |
Hornhindedystrofi |
CHST6, |
Mammary Carcinoma suppressor |
TRIM71, |
Mannosidose, beta |
MANBA, |
May-Hegglin-anomali |
MYH9, |
Melanom |
U6, |
Methæmoglobinæmi |
CYB5R3, |
Mikroftalmi |
SIX6, |
Mucopolysaccharidosis |
IDUA, GUSB, ARSB, SGSH, |
Vedvarende Müllerian Duct Syndrome (PMDS) |
AMHR2, |
Multiresistens |
ABCB1, |
Muskeldystrofi |
DMD, SGCD, SGCA, COL6A1, COL6A3, LARGE, LAMA2, |
|
|
Kongenitalt myastenisk syndrom |
LOC608697, CHAT, CHRNE, |
Myeloperoxidase mangel |
MPO, |
Myotoni |
CLCN1, |
Myotubulær myopati |
MTM1, |
Narkolepsi |
HCRTR2, |
Nasal parakeratose |
SUV39H2, |
Nemaline myopati |
NEB, |
Neonatal encefalopati |
ATF2, |
Nefrit |
COL4A5, COL4A4, |
Neuroaksonal dystrofi |
PLA2G6, TECPR2, VPS11, |
Pelsfarvefortynding og neurologiske defekter |
MYO5A, |
Neuropati, sensorisk |
FAM134B, |
Neutropeni, cyklisk |
AP3B1, |
Medfødt stationær natteblindhed (MSN) |
LRIT3, |
Osteogenesis imperfecta |
SERPINH1, COL1A1, COL1A2, |
Primær Lens Luxation (PLL) |
ADAMTS17, |
Polycystisk nyresygdom |
PKD1, |
Polyneuropati |
NDRG1, RAB3GAP1, SBF2, GJA9, |
Prekallikrein mangel |
KLKB1, |
Pyruvat dehydrogenase mangel (PDM) |
PDP1, |
Pyruvatkinase-mangel (PKD) |
PKLR, |
Nyrekræftsyndrom |
FLCN, |
Nethindeatrofi |
TTC8, CNGA1, CCDC66, SAG, NECAP1, SLC4A3, PDE6B, PDE6A, IQCB1, CNGB1, RH, |
Nethindedysplasi |
NDP, COL9A3, |
Multifokal retinopati |
BEST1, |
Progressiv stang-kegle degeneration |
PRCD, |
Scott syndrom |
ANO6, |
Hoftedysplasi |
COL11A2, |
Spondylokostal dysostose |
HES7, |
Stargardt sygdom 1 |
ABCA4, |
Stromal gastrointestinal tumor |
KIT, |
Succinatdehydrogenase-mangel (SDM) |
ALDH5A1, |
Dysfunktion af overfladeaktivt stofskifte |
ITGA2B, |
Trombasteni |
ITGA2B, |
Trombocytopeni |
TUBB1, |
Trombopati |
RASGRP2, |
Blære overgangscellekarcinom |
BRAF, |
Fanget neutrofilt syndrom |
VPS13B, |
Øvre luftvejssyndrom |
ADAMTS3, |
Lysosomal opbevaringssygdom |
ATG4D, |
Van den Ende-Gupta syndrom |
SCARF2, |
Ventrikulær arytmi |
MICOS13, |
D-vitaminmangel Rickets type sygdom |
VDR, |
Von Willebrands sygdom |
VWF, |
Wilsons/Menkes sygdom |
ATP7B, ATP7A, |
Xanthinuria |
XDH, MOCOS |