| 3-alpha-methylglutacon acidurie type 1 |
AUH |
250950 |
| 3-alpha-methylglutaconyl-CoA dehydrogenase deficiëntie |
AUH |
250950 |
| 3-hydroxyisobutryl-CoA hydrolase deficiency |
HIBCH |
250620 |
| 3-hydroxyisobutyrate dehydrogenase deficiency |
HIBADH |
608475 |
| 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
MCCC1 |
210200 |
| 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
MCCC2 |
210210 |
| ?-ureidopropionase deficiëntie |
UPB1 |
606673 |
| Achromatopsie type 2 |
CNGA3 |
216900 |
| Achromatopsie type 3 |
CNGB3 |
262300 |
| Adenine phosphoribosyltransferase (APRT) |
APRT |
102600 |
| Adenosine deaminase deficiëntie |
ADA |
102700 |
| Albinisme, Oculocutaan, type 1 |
TYR |
203100 |
| Albinisme, Oculocutaan, type 2 |
OCA2 |
203200 |
| Albinisme, X-linked (OA1) |
OA1 |
300500 |
| Alpha-methylacyl-CoA racemase deficiëntie |
AMACR |
614307 |
| Amyotrofe Lateraal Sclerose |
FUS |
137070 |
| Amyotrofe Lateraal Sclerose (ALS1) |
SOD1 |
105400 |
| Amyotrofe Lateraal Sclerose (ALS9) |
ANG |
611895 |
| Amyotrofe Lateraal Sclerose 8 |
ALS8 |
|
| |
VAPB |
608627 |
| Amyotrofie, Neuralgisch, Hereditair |
SEPT9 |
162100 |
| Amyotrophic lateral sclerosis 11 |
ALS11 |
|
| |
FIG4 |
612577 |
| Amyotrophic lateral sclerosis 4, juvenile (ALS4) |
SETX |
602433 |
| Andersen syndroom |
KCNJ2 |
170390 |
| Angelman syndroom |
Methylering |
105830 |
| Angelman syndroom |
UBE3A |
105830 |
| Angioneurotisch oedeem |
SERPING1 |
106100 |
| Aniridie |
PAX6 |
106210 |
| Arginine-succinaat lyase deficiëntie |
ASL |
207900 |
| Aromatische L-aminozuur decarboxylase deficiëntie (AADC) |
DDC |
608643 |
| Arteriële calcificatie / Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiëntie |
ENPP1 |
208000 |
| Atrium septum defect 2 (ASD2) |
GATA4 |
607941 |
| Atrium septum defect met atrioventriculaire geleidingsstoornis |
NKX2.5 |
108900 |
| Axenfeld-Rieger Syndrome /Rieger syndroom type 1 |
PITX2 |
180500 |
| Axenfeld-Rieger Syndrome /Rieger syndroom type 3 |
FOXC1 |
602482 |
| Azoö/oligozoöspermie (Y-deleties) |
AZF genen |
400003 |
| Bannayan-Riley-Ruvalcaba syndroom |
PTEN |
153480 |
| Barth syndroom |
TAZ |
302060 |
| Beckwith-Wiedeman syndroom |
CDKN1C |
130650 |
| Beckwith-Wiedeman syndroom |
Methylering |
130650 |
| Brown-Vialetto-Van Laere syndrome/Riboflavine deficiëntie type 1 |
SLC52A3 |
211530 |
| Brown-Vialetto-Van Laere syndrome/Riboflavine deficiëntie type 2 |
SLC52A2 |
614707 |
| Brugada syndroom |
SCN5A |
601144 |
| Capillaire malformatie-arterioveneuze malformatie |
RASA1 |
608354 |
| 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 (CMD1P) |
PLN |
609909 |
| Cardiomyopathie, dilaterende (CMD1S) |
MYH7 |
613426 |
| Cardiomyopathie, dilaterende (CMD1Y) |
TPM1 |
611878 |
| Cardiomyopathie, dilaterende / hypertrofe |
CASQ2 |
115200 |
| Cardiomyopathie, dilaterende type 1I (CMD1I) |
DES |
604765 |
| Cardiomyopathie, dilaterende type 3A (CMD3A) |
TAZ |
302060 |
| Cardiomyopathie, dilaterende, met 'woolly hair' & |
keratoderma DSP |
605676 |
| Cardiomyopathie, hypertrofe, met WPW |
PRKAG2 |
600858 |
| Cardiomyopathie, hypertrofe, met WPW |
LAMP2 |
600858 |
| Cardiomyopathie, hypertrofe, type 1 |
MYH7 |
192600 |
| Cardiomyopathie, hypertrofe, type 2 |
TNNT2 |
115195 |
| Cardiomyopathie, hypertrofe, type 3 (CMH3) |
TPM1 |
115196 |
| Cardiomyopathie, hypertrofe, type 4 |
MYBPC3 |
115197 |
| Cardiomyopathie, hypertrofe, type 8 (CMH8) |
MYL3 |
608751 |
| Cardiomyopathie, hypertrofe, type10 (CMH10) |
MYL2 |
608758 |
| Cardiomyopathie, hypertrofische, type 7 (CMH7) |
TNNI3 |
191044 |
| Cardiomyopathie, linker ventrikel non-compactie, X-linked |
TAZ |
302060 |
| Cardiomyopathie, restrictieve |
TNNI3 |
115210 |
| Carney complex type 1 |
PRKAR1A |
160980 |
| Catecholaminergic induced polymorphic ventrikel fibrillation type1 (CPVT1) |
RYR2 |
604772 |
| Catecholaminergic induced polymorphic ventrikel fibrillation type2 (CPVT2) |
CASQ2 |
611938 |
| Catecholaminergic induced polymorphic ventrikel fibrillation type4 (CPVT4) |
CALM1 |
614916 |
| Centraal areolaire chorioide dystrofie |
PRPH2 |
179605 |
| Charcot Marie Tooth, ziekte van: CMTX |
GJB1 |
302800 |
| Charcot Marie Tooth, ziekte van: type 1A |
PMP22 |
118220 |
| Charcot Marie Tooth, ziekte van: type 1B |
MPZ |
118200 |
| Charcot Marie Tooth, ziekte van: type 1C |
LITAF |
601098 |
| Charcot Marie Tooth, ziekte van: type 2A2 |
MFN2 |
609260 |
| Charcot Marie Tooth, ziekte van: type 2B |
RAB7 |
600882 |
| Charcot Marie Tooth, ziekte van: type 2D |
GARS |
601472 |
| Charcot Marie Tooth, ziekte van: type 2E |
NEFL |
607684 |
| Charcot Marie Tooth, ziekte van: type 2F |
HSPB1 |
606595 |
| Charcot Marie Tooth, ziekte van: type 2K / 4A |
GDAP1 |
607831 |
| Charcot Marie Tooth, ziekte van: type 4C |
SH3TC2 |
601596 |
| Charcot Marie Tooth, ziekte van: type 4D |
NDRG1 |
601455 |
| Charcot Marie Tooth, ziekte van: type C, dominant intermediair |
YARS |
608323 |
| Charcot-Marie-Tooth disease, dominant intermediate B |
DNM2 |
606482 |
| Charcot-Marie-Tooth disease, type 2B1 |
CMT2B1 / LMNA |
605588 |
| Charcot-Marie-Tooth disease, type 4H |
CMT4H / FGD4 |
609311 |
| Cherubisme |
SH3BP2 |
118400 |
| CHILD syndroom, CK syndroom |
NSDHL |
308050 |
| Chitotriosidase deficiency |
CHIT1 |
614122 |
| Cholestase, progressieve familiaire intrahepatische type 1 (PFIC1) |
ATP8B1 |
211600 |
| Cholestase, progressieve familiaire intrahepatische type 2 (PFIC2) |
ABCB11 |
601847 |
| Cholestase, progressieve familiaire intrahepatische type 3 (PFIC3) |
ABCB4 |
602347 |
| Chorea, benign hereditary |
TITF1 |
118700 |
| Clove syndrome, fibroadipose hyperplasia |
PIK3CA |
612918 |
| Congenitaal erfelijk lymphoedeem type 1A (Nonne-Milroy lymfoedema) |
FLT4 |
153100 |
| Congenitaal erfelijk lymphoedeem type 1C |
GJC2 |
613480 |
| Congenitaal erfelijk lymphoedeem type 1D (Nonne-like lymfoedema) |
VEGFC |
615907 |
| Congenitale hypomyelinisatie (CHN of CMT4E) |
EGR2 |
605253 |
| Congenitale stationaire nachtblindheid type 1. |
NYX |
310500 |
| Congenitale stationaire nachtblindheid type 1A |
TRPM1 |
613216 |
| Congenitale stationaire nachtblindheid type 1B |
GRM6 |
257270 |
| Congenitale stationaire nachtblindheid type 2. |
CACNA1F |
300071 |
| Congenitale stationaire nachtblindheid type 2B |
CABP4 |
610427 |
| Cornelia de Lange syndrome 5 (CdLS 5) |
HDAC8 |
300882 |
| Cornelia de Lange syndroom |
NIPBL |
122470 |
| Cornelia de Lange syndroom, X-gebonden |
SMC1A |
300590 |
| Cowden, ziekte van |
PTEN |
158350 |
| Cyclic neutropenia |
ELA2 |
162800 |
| Danon disease |
LAMP2 |
300257 |
| Denys Drash syndroom |
WT1 |
194080 |
| Diabetes mellitus, insulin dependent |
INS |
125852 |
| Diabetes mellitus, neonatale, type 2 |
ABCC8 |
610374 |
| Diabetes mellitus, neonatale, type 3 |
KCNJ11 |
610582 |
| Diabetes mellitus, permanent neonatal |
INS |
606176 |
| Diabetes mellitus, permanent, neonatale |
GCK |
606176 |
| Distal spinal muscular atrophy (distal SMA), scapuloperoneal SMA |
hereditary motor and sensory neuropathy type 2c (HMSN2C) / TRVPV4/td> |
606071 |
| Dystonie type 6 (DYT6) |
THAP1 |
602629 |
| Emery-Dreifuss spierdystrofie, autosomaal recessief/dominant |
LMNA |
181350 |
| Emery-Dreifuss, spierdystrofie, X-gebonden |
EMD |
310300 |
| Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission |
DLP1 |
614388 |
| Ethylmalon encephalopathie |
ETHE1 |
602473 |
| Fabry, ziekte van |
GLA |
301500 |
| Familiair Hyperaldosteronisme type III |
KCNJ5 |
613677 |
| Familial creutzfeldt-jakob disease (CJD) |
PRNP |
123400 |
| Fatal familial insomnia |
PRNP |
600072 |
| Fish-eye ziekte |
LCAT |
136120 |
| Focal Dermal Hypoplasia (FDH) |
PORCN |
305600 |
| Fragiel X syndroom (FRAXA) |
FMR1 |
300624 |
| Fructose intolerantie, erfelijke |
ALDOB |
229600 |
| Galactokinase deficiëntie (Galactosemie type II) |
GALK1 |
230200 |
| Gaucher, ziekte van |
GBA |
230800 |
| Gerstmann-Straussler disease (GSD) |
PRNP |
137440 |
| Glaucoom (PAOG), primair |
OPTN |
602432 |
| Glaucoom (PAOG), primair |
MYOC |
601652 |
| Glaucoom (PAOG), primair |
CYP1B1 |
601771 |
| Glucocorticoid Remediable Aldosteronism (GRA, hypertensie) |
CYP11B1/CYP11B2 |
103900 |
| Glutaaracidurie type I |
GCDH |
231670 |
| Glycogeen stapelingsziekte type 0 (GSD-0) |
GYS2 |
240600 |
| Glycogen storage disease X |
PGAM2 |
261670 |
| Greenberg skelet dysplasie (Sterol-delta reductase deficiëntie) |
LBR |
215140 |
| GTP cyclohydrolase I deficiëntie (GCH1) |
GCH1 |
233910 |
| Hemochromatose, type 1 |
HFE |
235200 |
| Hemofilie A |
FVIII |
306700 |
| Hennekam lymphangiectasia-lymphedema syndrome |
CCBE1 |
235510 |
| Hereditaire distale motorische neuropathie (dHMN2) |
HSPB8 |
158590 |
| Hereditary neuropathy with pressure palsies (HNPP) |
PMP22 |
162500 |
| Holocarboxylase synthetase deficiency |
HLCS |
253270 |
| Holt-Oram syndroom |
TBX5 |
142900 |
| HPRT-gerelateerde jicht & |
Lesch-Nyhan syndroom / HPRT1 |
300323 |
| Hydroxyl-CoA dehydrogenase deficiëntie (2-Methyl-3-hydroxybutyryl-CoA dehydrogenase) |
HADH2 |
231670 |
| Hyper IgE recurrent infection syndrome, autosomal dominant |
STAT3 |
147060 |
| Hyper IgE recurrent infection syndrome, autosomal recessive |
DOCK8 |
243700 |
| Hypercholanemie, familiaire |
BAAT |
607748 |
| Hypercholesterolemie (familiair) |
APOB |
143890 |
| Hypercholesterolemie (familiair) |
LDLR |
143890 |
| Hyperlipoproteïnemie, type 1 |
LPL |
238600 |
| Hyperlysinemia |
AASS |
238700 |
| Hyperoxalurie type II |
GRHPR |
260000 |
| Hyperoxalurie type III |
HOGA1 |
613616 |
| Hyperproinsulinemia |
INS |
176730 |
| Hypopituitarisme in combinatie met micro- of anophthalmia |
SOX2 |
184429 |
| Hypothyreoïdie, centrale |
SOX2 |
184429 |
| Hypothyreoidie, centrale |
HESX1 |
601802 |
| Hypothyreoidie, centrale |
POU1F1 |
173110 |
| Hypothyreoidie, centrale |
LHX3 |
600577 |
| Hypothyreoidie, centrale |
TSHB |
188540 |
| Hypothyreoidie, centrale |
TRHR |
188545 |
| Hypothyreoidie, centrale |
TRH |
275120 |
| Hypothyreoidie, centrale |
PROP1 |
601538 |
| Iatrogenic CJD, kuru |
PRNP |
245300 |
| Isovaleriaan acidemie |
IVD |
243500 |
| Lathosterolose |
SC5DL |
607330 |
| Leber Congenitale Amaurosis (LCA) |
o.a. GUCY2D, RPE65, |
204000 |
| Leber Congenitale Amaurosis (LCA) |
RPGRIP1 |
204000 |
| Leber Opticus Atrofie (LHON) |
MTND6*LHON14484C |
535000 |
| Leber Opticus Atrofie (LHON) |
MTND1*LHON3460A |
535000 |
| Limb girdle spierdystrofie, type 1B |
LMNA |
159001 |
| Long QT syndrome type 9 |
CAV3 |
611818 |
| Long QT syndroom type 1 |
KCNQ1 |
192500 |
| Long QT syndroom type 2 |
KCNH2 |
152427 |
| Long QT syndroom type 3 |
SCN5A |
603830 |
| Long QT syndroom type 5 |
KCNE1 |
176261 |
| Long QT syndroom type 6 |
KCNE2 |
603796 |
| Long QT syndroom type 8 (met syndactyly) |
CACNA1C |
601005 |
| Lymfoedema-distichiasis syndroom |
FOXC2 |
153400 |
| Lynch Syndroom (HNPCC) |
MSH2 |
120435 |
| Lynch Syndroom (HNPCC) |
MLH1 |
609310 |
| Lynch Syndroom (HNPCC) |
MSH6 |
600678 |
| Lynch Syndroom (HNPCC) |
PMS2 |
614337 |
| Lynch Syndroom (HNPCC), microsatelliet instabiliteit |
n.v.t. |
n.v.t. |
| Macula dystrophie (Basal laminar drusen) |
CFH |
126700 |
| Macula dystrophie, ziekte van Best (Best vitelliformis) |
BEST1 |
153700 |
| McCune-Albright syndroom (MAS) |
GNAS |
174800 |
| Mentale retardatie, X-gebonden, met groeihormoondeficientie |
SOX3 |
300123 |
| Methemoglobinemia |
DIA1 |
250800 |
| Methylmalonyl-CoA epimerase deficiëntie |
MCEE |
251120 |
| Microcephalie, primair autosomaal recessief (MCPH1) |
MCPH1 |
251200 |
| Microcephalie, primair autosomaal recessief (MCPH5) |
ASPM |
608716 |
| Microcephalie, primair autosomaal recessief (MCPH7) |
STIL |
612703 |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
TYMP |
603041 |
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
SUCLG1 |
245400 |
| Mitochondriale encephalomyopathie geassocieerd met methylmalonacidurie (encephalomyopathie en mitochondriaal DNA depletie syndroom) |
SUCLA2 |
609560 |
| MODY (Maturity Onset Diabetes of the Young) (HNF4alpha) |
HNF4A |
125850 |
| MTP deficiëntie |
HADHB |
609015 |
| MTP deficiëntie, LCHAD deficiëntie, HELPP syndroom, AFLP |
HADHA |
609016 |
| Multiple Acyl-CoA dehydrogenase deficiëntie of glutaaracidurie type II |
ETFDH |
231680 |
| Multiple Acyl-CoA dehydrogenase deficiëntie of glutaaracidurie type II |
ETFA |
231680 |
| Multiple Acyl-CoA dehydrogenase deficiëntie of glutaaracidurie type II |
ETFB |
231680 |
| Myoclonus dystonie |
SGCE |
604149 |
| Myoglobinuria, acute recurrent, autosomal recessive |
LPIN1 |
268200 |
| Myopathy, centronuclear, autosomal dominant |
DNM2 |
160150 |
| Myotubulaire myopathie, X-gebonden |
MTM1 |
310400 |
| Nachtblindheid, stationaire congenitale |
CSNB2 |
300071 |
| Nachtblindheid, stationaire congenitale |
CSNB1 |
310500 |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, HSAN1 |
SPTLC1 |
162400 |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, HSAN2 |
HSN2 |
201300 |
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HSAN5 |
NGFb |
608654 |
| Neutropenia, severe congenital, 3, autosomal recessive |
SCN3 / HAX1 |
610738 |
| Neutropenia, severe congenital, 3, X-linked |
SCNX / WAS |
300299 |
| Neutropenia, severe congenital, 4, autosomal recessive |
SCN4 / G6PC3 |
612541 |
| Nicolaide Baraitser Syndroom (NCBRS) |
SMARCA2 |
601358 |
| Niemann-Pick type A en B |
SMPD1 |
257200 |
| Niemann-Pick type C1 |
NPC1 |
257220 |
| Niemann-Pick type C2 |
NPC2 |
607625 |
| Opticus atrofie type 1, autosomaal dominant |
OPA1 |
165500 |
| Opticus atrofie type 3, autosomaal dominant |
OPA3 |
165300 |
| Pendred syndroom |
SLC26A4 |
274600 |
| Peroxisomale Acyl-CoA oxidase deficientie |
ACOX1 |
264470 |
| Peroxisome biogenesis disorder |
PEX11B |
614920 |
| Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
KCNJ11 |
256450 |
| Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
GCK |
256450 |
| Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
ABCC8 |
256450 |
| Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
GLUD1 |
256450 |
| Phosphoribosyl pyrophosphate synthetase 1 superactiviteit en deficiëntie |
PRPS1 |
311850 |
| Polyposis coli, familiaire adenomateuze |
APC |
175100 |
| Polyposis coli, familiaire adenomateuze (FAP) |
BMPR1A |
610069 |
| Polyposis coli, familiaire adenomateuze (FAP) |
SMAD4 |
174900 |
| Polyposis coli, juveniele |
SMAD4 |
174900 |
| Polyposis coli, juveniele |
BMPR1A |
174900 |
| Polyposis, MUTYH associated (MAP) |
MUTYH |
608456 |
| Pontocerebellar hypoplasia type 2A |
PCH2A / TSEN54 |
277470 |
| Pontocerebellar hypoplasia type 2B |
PCH2B / TSEN2 |
612389 |
| Pontocerebellar hypoplasia type 2C |
PCH2C / TSEN34 |
612390 |
| Pontocerebellar hypoplasia type 4 |
PCH4 / TSEN54 |
225753 |
| Pontocerebellar hypoplasia type 6 |
PCH6/ RARS2 |
611523 |
| Prader-Willi Syndroom |
Methylering |
176270 |
| Progressieve cone-dystrofie, X-gebonden |
COD1 |
304020 |
| Progressive familial heart block, type IB |
PFHB1B / TRPM4 |
604559 |
| Properdine deficiëntie |
PFC |
312060 |
| Proteus syndroom |
AKT1 |
176920 |
| Pseudohypoparathyreoïdie type II |
PTHR1 |
203330 |
| Pseudohypoparathyreoidie type IA (PHP-IA) |
GNAS |
103580 |
| Pseudoxanthoma elasticum (PXE) |
ABCC6 |
603234 |
| Purine nucleoside phosphorylase deficiëntie |
NP |
164050 |
| Retinale kegel-dystrofie type 3B (RCD3B) |
KCNV2 |
610356 |
| Retinitis Pigmentosa, autosomaal recessief |
Diverse genen |
268000 |
| Retinitis Pigmentosa, autosomaal recessief |
RPE65 |
613794 |
| Retinitis Pigmentosa, autosomaal recessief |
CRB1 |
600105 |
| Retinitis Pigmentosa, dominant |
OPN2 |
180380 |
| Retinitis Pigmentosa, X-gebonden |
RP3 |
300389 |
| Retinitis Pigmentosa, X-gebonden |
RP2 |
312600 |
| Retinoschisis, X-gebonden |
XLRS1 |
312700 |
| Rett syndroom |
MECP2 |
312750 |
| Rett syndroom, congenitale variant |
FOXG1 |
613454 |
| RETT syndroom, early-onset met epilepsie en spasmen |
CDKL5 |
300672 |
| Riboflavine deficiëntie |
SLC52A1 |
615026 |
| Riley-Day syndroom (familial dysautonomia) |
IKBKAP |
223900 |
| Schildklieraanlegstoornis |
PAX8 |
167415 |
| Schildklieraanlegstoornis |
HOXA3 |
142954 |
| Schildklieraanlegstoornis |
FOXE1 |
241850 |
| Schildklierdyshormonogenese |
SLC5A5 |
274400 |
| Schildklierdyshormonogenese |
DUOXA2 |
607200 |
| Schildklierdyshormonogenese |
IYD |
274800 |
| Schildklierdyshormonogenese |
TG |
188450 |
| Schildklierdyshormonogenese |
TPO |
274500 |
| Schildklierdyshormonogenese |
DUOX2 |
607200 |
| Schildklierhormoon resistentie |
THRB |
190160 |
| Severe congenital neutropenia |
ELA2 |
202700 |
| Shwachman-Diamond syndroom |
SBDS |
260400 |
| Sick sinus syndrome 2, autosomal dominant |
SSS2 / HCN4 |
163800 |
| Silver-Russell Syndroom (methylering) |
n.v.t. |
180860 |
| Silver-Russell Syndroom (UPD7) |
n.v.t. |
180860 |
| Simpson-Golabi-Behmel syndroom |
GPC3 |
300037 |
| Smith-Lemli-Opitz syndroom |
DHCR7 |
270400 |
| Spongiform encephalopathy with neuropsychiatric features |
PRNP |
606688 |
| Stargardt, ziekte van, type 3 |
ELOVL4 |
600110 |
| Stargardt, ziekte van, type I |
ABCA4 |
248200 |
| Tay-Sachs, ziekte van |
HEXA |
272800 |
| Tetralogie van Fallot |
NKX2.5 |
187500 |
| Thrombocytopenia, X-linked |
WAS |
313900 |
| Thyroid-stimulerend hormoon resistentie |
GNAS |
603372 |
| Thyroid-stimulerend hormoon resistentie |
TSHR |
603372 |
| Timothy syndroom |
CACNA1C |
601005 |
| Trichorhinophalangeal syndrome type I |
TRPS1 |
190350 |
| TSH receptor resistentie |
TPST2 |
603126 |
| Tyrosine hydroxylase deficiëntie (Dopa responsieve dystonie) |
TH |
605407 |
| Uniparentale disomie (UPD) |
n.v.t. |
n.v.t. |
| Variant CJD (vCJD) |
PRNP |
123400 |
| VLCAD deficiëntie (zeer lang keten acyl-CoA dehydrogenase) |
ACADVL |
201475 |
| Wilms tumoren, bilateraal |
WT1 |
194070 |
| Wiskott-Aldrich syndrome |
WAS |
301000 |
| Wolff-Parkinson-White syndroom (WPW) |
LAMP2 |
194200 |
| Wolff-Parkinson-White syndroom (WPW) |
PRKAG2 |
194200 |
| Zellweger Spectrum disorder |
PEX14 |
614887 |
| Zellweger Spectrum disorder |
PEX3 |
614882 |
| Zellweger Spectrum disorder |
PEX16 |
614876 |
| Zellweger Spectrum disorder |
PEX19 |
614886 |
| Zellweger syndroom (PEX1 deficiëntie) |
PEX1 |
214100 |
| Zellweger syndroom (PEX10 deficiëntie) |
PEX10 |
602859 |
| Zellweger syndroom (PEX12 deficiëntie) |
PEX12 |
601758 |
| Zellweger syndroom (PEX13 deficientie) |
PEX13 |
601789 |
| Zellweger syndroom (PEX2 deficiëntie) |
PEX2 |
170993 |
| Zellweger syndroom (PEX26 deficientie) |
PEX26 |
601789 |
| Zellweger syndroom (PEX5 deficiëntie) |
PEX5 |
600414 |
| Zellweger syndroom (PEX6 deficiëntie) |
PEX6 |
601498 |
| Zellweger syndroom - Complementatieanalyse |
n.v.t. |
601539 |
