| ACHONDROGENESIS, TYPE II; ACG2 |
COL2A1 |
200610 |
| Acral peeling skin syndroom |
TGM5 |
609796 |
| Amyloidotische polyneuropathie |
TTR |
176300 |
| Anhidrotische ectodermale dysplasie (AED), autosomaal dominant |
EDARADD |
129490 |
| Anhidrotische ectodermale dysplasie (AED), autosomaal recessief |
EDARADD |
224900 |
| Aortic Valve disease |
NOTCH1 |
109730 |
| Azoö/oligozoöspermie (Y-deleties) |
AZF genen |
400003 |
| Borst- en ovariumkanker, erfelijk (BRCA1) |
BRCA1 |
604370 |
| Borst- en ovariumkanker, erfelijk (BRCA2) |
BRCA2 |
612555 |
| Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD/C9) |
PKP2 |
609040 |
| Cardiomyopathie, aritmogeen rechter ventrikel dysplasie (ARVD10) |
DSG2 |
610193 |
| Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD11) |
DSC2 |
610476 |
| Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD12) |
JUP |
611528 |
| Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD5) |
TMEM43 |
604400 |
| Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD8) |
DSP |
607450 |
| Cardiomyopathie, dilaterende |
EMD |
310300 |
| Cardiomyopathie, dilaterende (CMD1A) |
LMNA |
115200 |
| Cardiomyopathie, dilaterende (CMD1D) |
TNNT2 |
601494 |
| Cardiomyopathie, dilaterende (CMD1L) |
SGCD |
606685 |
| Cardiomyopathie, dilaterende (CMD1P) |
PLN |
609909 |
| Cardiomyopathie, dilaterende (CMD1S) |
MYH7 |
613426 |
| Cardiomyopathie, dilaterende / hypertrofe |
CSRP3 |
600824 |
| Cardiomyopathie, dilaterende type 1I (CMD1I) |
DES |
604765 |
| Cardiomyopathie, dilaterende type 1M (CMD1M) |
CSRP3 |
607482 |
| Cardiomyopathie, dilaterende, met 'woolly hair' & keratoderma |
DSP |
605676 |
| Cardiomyopathie, hypertrofe, type 1 |
MYH7 |
192600 |
| Cardiomyopathie, hypertrofe, type 2 |
TNNT2 |
115195 |
| Cardiomyopathie, hypertrofe, type 4 |
MYBPC3 |
115197 |
| Cardiomyopathie, hypertrofische, type 7 (CMH7) |
TNNI3 |
191044 |
| Cardiomyopathie, restrictieve |
TNNI3 |
115210 |
| CHAR syndroom |
TFAP2B |
601601 |
| Congenitale bilaterale aplasie vas deferens (CBAVD) |
CFTR |
277180 |
| Congenitale hartafwijkingen, coarctatio aortae |
NOTCH1 |
120000 |
| Congenitale hartafwijkingen, heterotaxie, transpositie van de grote vaten |
GDF1 |
601265 |
| Congenitale hartafwijkingen, heterotaxie, transpositie van de grote vaten |
NOTCH1 |
601265 |
| Congenitale hartafwijkingen, heterotaxy |
NODAL |
601265 |
| Cystische fibrose |
CFTR |
219700 |
| Ectodermale Dysplasie |
WNT10A |
257980 |
| Emery-Dreifuss, spierdystrofie, X-gebonden |
EMD |
310300 |
| Epidermolysis bullosa, junctional |
LAMB3 |
226650 |
| Epidermolysis bullosa, junctional |
COL17A1 |
226650 |
| Epidermolysis bullosa, simplex |
KRT5 |
131900 |
| Epidermolysis bullosa, simplex |
KRT14 |
131900 |
| Episodische ataxie, type 1 |
KCNA1 |
160120 |
| Fibrinogeen amyloïdose |
FGA |
134820 |
| Fragiel X syndroom (FRAXA) |
FMR1 |
300624 |
| Fraser syndroom |
FRAS1 |
607830 |
| Glycogeen stapelingsziekte type 0 (GSD-0) |
GYS2 |
240600 |
| Glycogeen stapelingsziekte, type III |
AGL |
232400 |
| Glycogeenstapelingsziekte type 1a |
G6PC |
232200 |
| Glycogeenstapelingsziekte type 1b |
G6PT1 |
232220 |
| Goldberg-Shprintzen syndroom |
KIAA1279 |
609460 |
| Hirschsprung, ziekte van |
PHOX2B |
142633 |
| Hirschsprung, ziekte van |
RET |
142623 |
| Hirschsprung, ziekte van |
EDNRB |
142633 |
| Hirschsprung, ziekte van |
EDN3 |
142633 |
| Hydrocephalus, X-gebonden |
L1CAM |
307000 |
| Hypercholesterolemie (familiair) |
LDLR |
143890 |
| Hypercholesterolemie (familiair) |
APOB |
143890 |
| Hypofosfatemische rachitis, autosomaal dominant |
FGF23 |
193100 |
| Hypofosfatemische rachitis, X-gebonden |
PHEX |
307800 |
| Hypohidrotische ectodermale dysplasie |
ED1 |
305100 |
| Hypohidrotische ectodermale dysplasie, autosomaal dominant |
EDAR |
129490 |
| Hypohidrotische ectodermale dysplasie, autosomaal recessief |
EDAR |
224900 |
| Incontinentia pigmenti type 2 (IP2) |
NEMO |
308300 |
| Junctionele Epidermolysis Bullosa |
ITGB4 |
147557 |
| Junctionele Epidermolysis Bullosa |
LAMA3 |
600805 |
| Junctionele Epidermolysis Bullosa |
ITGA6 |
147556 |
| Junctionele Epidermolysis Bullosa |
LAMC2 |
150292 |
| KNIEST DYSPLASIA |
COL2A1 |
156550 |
| Langer mesomele dysplasie |
SHOX |
249700 |
| Leri-Weill dyschondrosteosis (LWD) |
SHOX |
127300 |
| LiFraumeni syndroom |
TP53 |
151623 |
| Lipodystrofie, familiaire partiële |
EMD |
151660 |
| Lynch Syndroom (HNPCC) |
MLH1 |
609310 |
| Lynch Syndroom (HNPCC) |
MSH6 |
600678 |
| Lynch Syndroom (HNPCC) |
PMS2 |
614337 |
| Lynch Syndroom (HNPCC) |
MSH2 |
120435 |
| Lynch Syndroom (HNPCC), microsatelliet instabiliteit |
n.v.t. |
n.v.t. |
| Lynch Syndroom (HNPCC), Somatische MLH1 promoter methylering |
MLH1 |
609310 |
| MASA syndroom |
L1CAM |
303350 |
| Mentale retardatie, autosomaal dominant, type 20 (stereotypic movements, epilepsy, cerebral malfomations |
MEF2C |
613443 |
| Microvillus inclusion disease (MVID) of Diarrhea 2, with microvillus atrophy (DIAR2) |
MYO5B |
251850 |
| Naxos disease |
JUP |
601214 |
| Nemaline myopathie 6 (NEM6) |
KBTBD13 |
609273 |
| Neurodegeneratie met ijzerafzetting in de hersenen (NBIA) en (infantiele) neuroaxonale dystrofie. |
PLA2G6 |
256600 |
| Pantothenaat kinase geassocieerde neurodegeneratie (Hallervorden-Spatz syndroom; HSS)(PKAN) |
PANK2 |
234200 |
| Polyposis, MUTYH associated (MAP) |
MUTYH |
608456 |
| Primaire pulmonale hypertensie (PPH1) |
BMPR2 |
178600 |
| Retinoblastoma |
RB1 |
180200 |
| Rett syndroom |
MECP2 |
312750 |
| Rett syndroom, congenitale variant |
FOXG1 |
613454 |
| RETT syndroom, early-onset met epilepsie en spasmen |
CDKL5 |
300672 |
| SCA23 |
PDYN |
610245 |
| SHAH Waardenburg syndroom |
SOX10 |
611584 |
| Shah-Waardenburg syndroom |
EDNRB |
611584 |
| Shah-Waardenburg syndroom |
EDN3 |
611584 |
| Short Stature, idiopathische |
SHOX |
300582 |
| Smith-Magenis syndroom (SMS) |
RAI1 |
182290 |
| Spinale spieratrofie (SMA) |
SMN1 |
253300 |
| Spinale spieratrofie met diafragma verlamming (SMARD) |
IGHMBP2 |
604320 |
| Spinocerebellaire ataxie type 1 (SCA1) |
ATXN1 |
164400 |
| Spinocerebellaire ataxie type 2 (SCA2) |
ATXN2 |
183090 |
| Spinocerebellaire ataxie type 3 (SCA3) (Machado-Joseph) |
ATXN3 |
109150 |
| Spinocerebellaire ataxie type 6 (SCA6) |
CACNA1A |
183086 |
| Spinocerebellaire ataxie type 7 (SCA7) |
ATXN7 |
164500 |
| Spondyloepiphyseal Dysplasia Congenita (SEDC) |
COL2A1 |
183900 |
| Stickler syndroom, Autosomaal dominant, type 1 |
COL2A1 |
108300 |
| Subtelomere deleties bij mentale retardatie |
n.v.t. |
n.v.t. |
| Uniparentale disomie (UPD) |
n.v.t. |
n.v.t. |