| 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 |