| 5-fluorouracil metabolisme (farmacogenetica) |
DPYD |
612779 |
| Achondrogenesis, type 1B |
SLC26A2 |
606718 |
| Achondroplasie |
FGFR3 |
134934 |
| Acral peeling skin syndroom |
TGM5 |
603805 |
| Acrodermatitis enteropathica |
SLC39A4 |
607059 |
| Adams-Oliver syndroom |
NOTCH1 |
190198 |
| Aicardi-Goutieres syndrome, Dyschromatosis, symmetrica hereditaria |
ADAR1 |
146920 |
| Alagille syndroom |
JAG1 |
601920 |
| Alopecia universalis |
HR |
203655 |
| Alport syndroom |
COL4A3 |
120070 |
| Alport syndroom |
COL4A4 |
120131 |
| Alport syndroom |
COL4A5 |
303630 |
| Amyloidosis |
TTR |
176300 |
| Angelman syndroom |
Methylatie/deletie analyse |
105830 |
| Angelman syndroom |
UBE3A |
105830 |
| Angelman syndroom |
UPD chromosoom 15 |
105830 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
DSC2 |
125645 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
DSG2 |
125671 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
DSP |
125647 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
JUP |
173325 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
PKP2 |
602861 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
PLN |
172405 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
TMEM43 |
612048 |
| Arrhythmogene rechter ventrikel cardiomyopathie |
TTN |
188840 |
| Atelosteogenesis, type 2 |
SLC26A2 |
606718 |
| Autosomaal recessief congenitaal ichthyosis |
ALOX12B |
603741 |
| Autosomaal recessief congenitaal ichthyosis |
ALOXE3 |
607206 |
| Autosomaal recessief ichthyosis, type 5 |
CYP4F22 |
611495 |
| Autosomaal recessieve ichthyosis, type 10 |
PNPLA1 |
612121 |
| Autosomaal recessieve ichthyosis, type 6 |
NIPAL4 |
609383 |
| Azoospermie/oligozoospermie |
AZFa/b/c deletie analyse |
415000 |
| Basal cell nevus syndroom, Gorlin-Goltz |
PTCH1 |
109400 |
| Birt-Hogg-Dubé syndroom |
FLCN |
607273 |
| Borst- en ovariumkanker, erfelijk |
BRCA2 |
612555 |
| Borst- en ovariumkanker, erfelijk |
TP53 |
191170 |
| Borst- en ovariumkanker, erfelijk |
BRCA1 |
113705 |
| Brugada syndroom |
SCN5A |
600163 |
| Buschke-Ollendorff syndroom |
LEMD3 |
607844 |
| Campomele dysplasie |
SOX9 |
608160 |
| Capillaire malformatie-arterioveneuze malformatie |
RASA1 |
139150 |
| Cardiomyopathie |
FLNC |
102565 |
| Cardiomyopathie (HCM/DCM) |
ACTC1 |
102540 |
| Cardiomyopathie (HCM/DCM) |
BAG3 |
603883 |
| Cardiomyopathie (HCM/DCM) |
CRYAB |
123590 |
| Cardiomyopathie (HCM/DCM) |
CSRP3 |
600824 |
| Cardiomyopathie (HCM/DCM) |
DES |
125660 |
| Cardiomyopathie (HCM/DCM) |
GLA |
300644 |
| Cardiomyopathie (HCM/DCM) |
LAMP2 |
309060 |
| Cardiomyopathie (HCM/DCM) |
LDB3 |
605906 |
| Cardiomyopathie (HCM/DCM) |
LMNA |
150330 |
| Cardiomyopathie (HCM/DCM) |
MYBPC3 |
600958 |
| Cardiomyopathie (HCM/DCM) |
MYH6 |
160710 |
| Cardiomyopathie (HCM/DCM) |
MYH7 |
160760 |
| Cardiomyopathie (HCM/DCM) |
MYL2 |
160781 |
| Cardiomyopathie (HCM/DCM) |
MYL3 |
160790 |
| Cardiomyopathie (HCM/DCM) |
MYOZ2 |
605602 |
| Cardiomyopathie (HCM/DCM) |
PLN |
172405 |
| Cardiomyopathie (HCM/DCM) |
PRKAG2 |
602743 |
| Cardiomyopathie (HCM/DCM) |
TAZ |
300394 |
| Cardiomyopathie (HCM/DCM) |
TCAP |
604488 |
| Cardiomyopathie (HCM/DCM) |
TNNC1 |
191040 |
| Cardiomyopathie (HCM/DCM) |
TNNI3 |
191044 |
| Cardiomyopathie (HCM/DCM) |
TNNT2 |
191045 |
| Cardiomyopathie (HCM/DCM) |
TPM1 |
191010 |
| Cardiomyopathie (HCM/DCM) |
TTN |
188840 |
| Cardiomyopathie (HCM/DCM) |
TTR |
176300 |
| Carvajal syndroom |
DSP |
125647 |
| Cerebellaire ataxie en atrofie |
COQ8A |
606980 |
| Chanarin-Dorfman syndroom |
ABHD5 |
604780 |
| Charcot-Marie-Tooth, ziekte van type 1A |
PMP22 |
118220 |
| Charcot-Marie-Tooth, ziekte van type 1E |
PMP22 |
118300 |
| CLOVE(S) syndroom, macrodactyly |
PIK3CA |
171834 |
| Complex I deficiëntie en cardiomyopathie |
ACAD9 |
611103 |
| Complex IV deficiëntie, autosomaal recessief |
SURF1 |
185620 |
| Congenitale hartziekten |
ACTC1 |
102540 |
| Congenitale hartziekten |
ACVR2B |
602730 |
| Congenitale hartziekten |
CFC1 |
605194 |
| Congenitale hartziekten |
CRELD1 |
607170 |
| Congenitale hartziekten |
GATA4 |
600576 |
| Congenitale hartziekten |
GATA5 |
611496 |
| Congenitale hartziekten |
GATA6 |
601656 |
| Congenitale hartziekten |
GDF1 |
602880 |
| Congenitale hartziekten |
JAG1 |
601920 |
| Congenitale hartziekten |
MYH6 |
160710 |
| Congenitale hartziekten |
NKX2-5 |
600584 |
| Congenitale hartziekten |
NODAL |
601265 |
| Congenitale hartziekten |
NOTCH1 |
190198 |
| Congenitale hartziekten |
TBX20 |
606061 |
| Congenitale hartziekten |
TBX5 |
601620 |
| Congenitale hartziekten |
ZIC3 |
300265 |
| Conradi-Hünermann-Happle syndroom |
EBP |
300205 |
| Cowden syndroom, type 5 |
PIK3CA |
171834 |
| Cowden syndroom, type 6 |
AKT1 |
164730 |
| CPEO |
mtDNA |
|
| Craniofrontonasaal syndroom (CFNS) |
EFNB1 |
300035 |
| Craniometafysaire dysplasie |
ANKH |
605145 |
| Craniosynostose |
FGFR1 |
136350 |
| Craniosynostose |
FGFR2 |
176943 |
| Craniosynostose |
FGFR3 |
134934 |
| Craniosynostose |
TWIST1 |
601622 |
| Craniosynostose, type 3 |
TCF12 |
600480 |
| Cutaan maligne melanoma |
CDK4 |
123829 |
| Darier-White, ziekte van |
ATP2A2 |
108740 |
| Dejerine-Sottas, ziekte van |
PMP22 |
145900 |
| Diastrofe dysplasie |
SLC26A2 |
606718 |
| Dowling-Degos |
POFUT1 |
607491 |
| Dowling-Degos |
POGLUT1 |
615618 |
| Dunnevezel-neuropathie |
GLA |
300644 |
| Dunnevezel-neuropathie |
SCN10A |
604427 |
| Dunnevezel-neuropathie |
SCN11A |
604385 |
| Dunnevezel-neuropathie |
SCN1B |
600235 |
| Dunnevezel-neuropathie |
SCN2B |
601327 |
| Dunnevezel-neuropathie |
SCN3A |
182391 |
| Dunnevezel-neuropathie |
SCN3B |
608214 |
| Dunnevezel-neuropathie |
SCN4B |
608256 |
| Dunnevezel-neuropathie |
SCN7A |
182392 |
| Dunnevezel-neuropathie |
SCN8A |
600702 |
| Dunnevezel-neuropathie |
SCN9A |
603415 |
| Dystrofische epidermolysis bullosa |
COL7A1 |
120120 |
| Epidermolytische ichthyosis met palmoplantaire keratodermie |
KRT1 |
139350 |
| Epidermolytische ichthyosis met palmoplantaire keratodermie, type Unna-Thost |
KRT1 |
139350 |
| Epidermolytische ichthyosis zonder palmoplantaire keratodermie |
KRT10 |
148080 |
| Erfelijke borstkanker |
PALB2 |
610355 |
| Erfelijke ovariumkanker |
BRIP1 |
605882 |
| Erfelijke ovariumkanker |
RAD51C |
613399 |
| Erfelijke ovariumkanker |
RAD51D |
614291 |
| Erythermalgie, primair of idiopathisch |
SCN9A |
603415 |
| Erythrokeratodermia variabilis |
GJB3 |
603324 |
| Erythrokeratodermia variabilis |
GJB4 |
605425 |
| Fabry, ziekte van |
GLA |
300644 |
| Familiair boezem fibrilleren |
KCNQ1 |
607542 |
| Fenylketonurie (PKU) |
PAH |
612349 |
| Floating-Harbor Syndroom |
SRCAP |
611421 |
| Fragiele X syndroom |
FMR1 |
309550 |
| Fragiele-X geassocieerd tremor ataxie syndroom |
FMR1 |
309550 |
| G6PD hemolytische anemie (farmacogenetica) |
G6PD |
305900 |
| Galactosemie |
GALT |
606999 |
| Hailey-Hailey, ziekte van |
ATP2C1 |
604384 |
| Hemochromatose, Juveniel, type 2a |
HJV |
608374 |
| Hemochromatose, type 1 |
HFE |
613609 |
| Hemochromatose, type 2B |
HAMP |
613313 |
| Hemochromatose, type 3 |
TFR2 |
604720 |
| Hemochromatose, type 4 |
SLC40A1 |
604653 |
| Hennekam syndroom |
CCBE1 |
612753 |
| Holoprosencefalie |
DISP1 |
607502 |
| Holoprosencefalie, type 2 |
SIX3 |
603714 |
| Holoprosencefalie, type 3 |
SHH |
600725 |
| Holoprosencefalie, type 4 |
TGIF1 |
602630 |
| Holoprosencefalie, type 5 |
ZIC2 |
603073 |
| Holoprosencefalie, type 7 |
PTCH1 |
601309 |
| Holoprosencefalie, type 9 |
GLI2 |
165230 |
| Holt-Oram syndroom |
TBX5 |
601620 |
| Hypochondroplasie |
FGFR3 |
134934 |
| Hypofosfatasia |
ALPL |
171760 |
| Hypotrichosis Marie Unna |
U2HR |
602302 |
| Ichthyosis prematurity syndroom |
SLC27A4 |
604194 |
| Ichthyosis vulgaris, Atopic dermatitis |
FLG |
135940 |
| Ichthyosis-hypotrichosis-scleroserende-cholangitis |
CLDN1 |
603718 |
| Inflammatoire demyeliniserende neuropathie |
PMP22 |
139393 |
| Jervell en Lange-Nielsen syndroom |
KCNE1 |
176261 |
| Jervell en Lange-Nielsen syndroom |
KCNQ1 |
607542 |
| Kabuki syndroom |
KDM6A |
300128 |
| Kabuki syndroom (MLL2) |
KMT2D |
602113 |
| Kearns-Sayre Syndroom |
mtDNA |
|
| Kozlowski type |
TRPV4 |
605427 |
| Lamellaire ichthyosis |
TGM1 |
190195 |
| Lamellaire, Harlequin ichthyosis |
ABCA12 |
607800 |
| Laminopathieën |
LMNA |
150330 |
| Laminopathieën |
ZMPSTE24 |
606480 |
| Leber hereditary optic neuropathy |
mtDNA |
|
| Leigh syndroom |
mtDNA |
|
| Limb-Girdle, Emery Dreifuss |
CAV3 |
601253 |
| Limb-Girdle, Emery Dreifuss |
DES |
125660 |
| Limb-Girdle, Emery Dreifuss |
LDB3 |
605906 |
| Limb-Girdle, Emery Dreifuss |
LMNA |
150330 |
| Limb-Girdle, Emery Dreifuss |
MYOZ2 |
605602 |
| Limb-Girdle, Emery Dreifuss |
PLN |
172405 |
| Limb-Girdle, Emery Dreifuss |
TCAP |
604488 |
| Long QT syndrome |
KCNJ5 |
600734 |
| Long QT syndroom |
CACNA1C |
114205 |
| Long QT syndroom |
CAV3 |
601253 |
| Long QT syndroom |
KCNE1 |
176261 |
| Long QT syndroom |
KCNE2 |
603796 |
| Long QT syndroom |
KCNH2 |
152427 |
| Long QT syndroom |
KCNJ2 |
600681 |
| Long QT syndroom |
KCNJ8 |
600935 |
| Long QT syndroom |
KCNQ1 |
607542 |
| Long QT syndroom |
SCN5A |
600163 |
| Long QT syndroom |
TRPM4 |
606936 |
| Lymfoedeem-distichiasis syndroom |
FOXC2 |
602402 |
| Mal de Meleda |
SLURP1 |
606119 |
| Melanoma-pancreas kanker syndroom |
CDKN2A |
600160 |
| MELAS |
mtDNA |
|
| MERFF |
mtDNA |
|
| Metatropische dysplasie |
TRPV4 |
605427 |
| Microcefale osteodysplastische primordiale dwerggroei, type 1 |
RNU4ATAC |
601428 |
| Milroy-like lymfoedeem |
VEGFC |
601528 |
| Monilethrix |
KRT81 |
602153 |
| Monilethrix |
KRT83 |
602765 |
| Monilethrix |
KRT86 |
601928 |
| Multiple cutane en mucosale veneuze malformaties |
TEK |
600221 |
| Multiple epiphyseal dysplasia |
SLC26A2 |
606718 |
| NARP |
mtDNA |
|
| Neurodegeneratie met ijzerstapeling in de hersenen |
C19orf12 |
614297 |
| Neurodegeneratie met ijzerstapeling in de hersenen |
PANK2 |
606157 |
| Nonne-Milroy lymfoedeem |
FLT4 |
136352 |
| Odonto onychodermal dysplasie |
WNT10A |
606268 |
| Oligodontie en colonkanker |
AXIN2 |
604025 |
| Ongevoeligheid voor pijn |
SCN9A |
603415 |
| Opticus atrofie type 1, autosomaal dominant |
OPA1 |
605290 |
| Opticus atrofie type 3, autosomaal dominant |
OPA3 |
606580 |
| Pachyonychia congenita |
KRT16 |
148067 |
| Pachyonychia congenita |
KRT17 |
148069 |
| Pachyonychia congenita |
KRT6A |
148041 |
| Pachyonychia congenita |
KRT6B |
148042 |
| Paget, ziekte van |
SQSTM1 |
601530 |
| Palmoplantaire keratoderma, type Nagashima |
SERPINB7 |
603357 |
| Palmoplantaire keratoderma, type punctata |
AAGAB |
614888 |
| Palmoplantaire keratoderma, type striata/SAM |
DSG1 |
125670 |
| Palmoplantaire keratoderma, type Vörner |
KRT9 |
607606 |
| Papillon-Lefevre syndroom |
CTSC |
602365 |
| Paroxysmale extreme pijn |
SCN9A |
603415 |
| Pearson syndroom |
mtDNA |
|
| Peeling skin syndroom |
CSTA |
184600 |
| Pityriasis rubra pilaris |
CARD14 |
607211 |
| POLG syndroom |
POLG1 |
174763 |
| Prader-Willi syndroom |
Methylatie/deletie analyse |
176270 |
| Prader-Willi syndroom |
UPD chromosoom 15 |
176270 |
| Premature ovariële insufficiëntie |
FMR1 |
309550 |
| Primair lymfoedeem |
GJC2 |
608803 |
| Proteus syndroom |
AKT1 |
164730 |
| Ptosis |
mtDNA |
|
| Recidiverende drukneuropathie |
PMP22 |
162500 |
| Restrictieve dermatopathie |
ZMPSTE24 |
606480 |
| Rett syndroom |
MECP2 |
300005 |
| Rhabdomyolyse |
LPIN1 |
605518 |
| Risicofactor borstkanker |
CHEK2 |
604373 |
| Roussy-Levy syndroom |
PMP22 |
180800 |
| Sengers syndroom |
AGK |
610345 |
| Short QT syndroom |
KCNH2 |
152427 |
| Short QT syndroom |
KCNQ1 |
607542 |
| Sick sinus syndroom |
HCN4 |
605206 |
| Sneddon syndroom |
CECR1 |
607575 |
| Spinale musculaire atrofie (SMA) |
SMN1 |
600354 |
| Spondylometafysaire dysplasie |
TRPV4 |
605427 |
| Spondylometafysaire dysplasie, type Sedaghatian |
GPX4 |
138322 |
| Sturge-Weber syndroom |
GNAQ |
600998 |
| Superficiële epidermolytische ichthyosis |
KRT2 |
600194 |
| Tand Agenesis |
PAX9 |
167416 |
| Thanatofore dysplasie |
FGFR3 |
134934 |
| Thiamine metabolisme dysfunctie, Leigh syndroom |
SLC19A3 |
606152 |
| Valproaat metabolisme (farmacogenetica) |
POLG1 |
174763 |
| Vici syndroom |
EPG5 |
615068 |
| Vohwinkel syndroom met ichthyosis |
LOR |
604117 |
| Witkop syndroom |
MSX1 |
142983 |
| Wolff-Parkinson-White syndroom |
PRKAG2 |
602743 |
| X-gebonden ichthyosis |
STS |
300747 |