| 3-Phosphoglyceraat Dehydrogenase deficiëntie |
PHGDH |
601815 |
| 46XY sex reversal type 3 (SRXY3) |
NR5A1 |
612965 |
| Action Myoclonus-Renal Failure syndroom (AMRF) |
SCARB2 |
254900 |
| Agammaglobulinemie, X-gebonden |
BTK |
300300 |
| AID deficiëntie |
AICDA |
605257 |
| Alstrom syndroom (ALMS) |
ALMS1 |
203800 |
| Alveolaire Capillaire Dysplasie met Misalignment van de Pulmonair Venen (ACDMPV) |
FOXF1 |
265380 |
| Amyotrofe Lateraal Sclerose |
FUS |
137070 |
| Amyotrofe Lateraal Sclerose |
TARDBP |
605078 |
| Amyotrofe lateraal sclerose (ALS) |
UBQLN2 |
300857 |
| Amyotrofe Lateraal Sclerose (ALS1) |
SOD1 |
105400 |
| Amyotrofe Lateraal Sclerose (ALS9) |
ANG |
611895 |
| Amyotrofe Lateraal Sclerose (Juveniel) ALS2 |
ALS2 (ALSIN) |
205100 |
| Amyotrofe Lateraal Sclerose 8; ALS8 |
VAPB |
608627 |
| Amyotrophic lateral sclerosis 11; ALS11 |
FIG4 |
612577 |
| Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia |
VCP |
613954 |
| Amyotrophic lateral sclerosis 4, juvenile (ALS4) |
SETX |
602433 |
| Angioneurotisch oedeem |
SERPING1 |
106100 |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 |
TGFB3 |
107970 |
| Atrium septum defect met atrioventriculaire geleidingsstoornis |
NKX2.5 |
108900 |
| Atypisch Hemolitisch Uremisch Syndroom 2 (AHUS2) |
CD46 |
612922 |
| Auto-immuun lymfoproliferatief syndroom (ALPS), type 1a |
FAS |
134637 |
| Auto-immuun lymfoproliferatief syndroom (ALPS), type 1b |
FASL |
134638 |
| Auto-immuun lymfoproliferatief syndroom (ALPS), type 2a |
CASP10 |
601762 |
| Autoimmuun polyendocrinopathie syndroom, type 1 (APS1) |
AIRE |
240300 |
| Autoinflammatoir syndroom, koude geinduceerd |
NLRP3 |
120100 |
| Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) |
CHRNA4 |
600513 |
| Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) |
CHRNB2 |
605375 |
| Azoö/oligozoöspermie (Y-deleties) |
AZF genen |
400003 |
| Benigne familiaire infantiele convulsies (BFIC) |
PRRT2 |
614386 |
| Bijnierhypoplasie, congenitale (AHC) |
NR0B1 |
300200 |
| Biotinidase deficiëntie |
BTD |
253260 |
| Blau syndroom |
NOD2 |
186580 |
| Borst- en ovariumkanker, erfelijk (BRCA1) |
BRCA1 |
604370 |
| Borst- en ovariumkanker, erfelijk (BRCA2) |
BRCA2 |
612555 |
| Branchio-oto-renaal (BOR) syndroom |
SIX1 |
608389 |
| Branchio-oto-renaal (BOR) syndroom |
EYA1 |
113650 |
| Branchiootic syndrome (BOS) |
EYA1 |
602588 |
| Branchiootorenal syndrome (BOR2) |
SIX5 |
610896 |
| Candidiasis, erfelijk type 2 |
CARD9 |
212050 |
| Candidiasis, familiaire type 5 (CANDF5) |
IL17RA |
613953 |
| Candidiasis, familiaire type 6 (CANDF6) |
IL17F |
613956 |
| Candidiasis, familiaire type 7 (CANDF7) |
STAT1 |
614162 |
| 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 (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 1R (CMD1R) |
ACTC1 |
613424 |
| Cardiomyopathie, dilaterende, hypertrofe |
FHL1 |
300696 |
| Cardiomyopathie, dilaterende, type 1N (CMD1N) |
TCAP |
607487 |
| Cardiomyopathie, hypertrofe |
TNNC1 |
192600 |
| Cardiomyopathie, hypertrofe |
MYOZ2 |
605602 |
| Cardiomyopathie, hypertrofe |
TCAP |
192600 |
| Cardiomyopathie, hypertrofe, type 1 |
MYH7 |
192600 |
| Cardiomyopathie, hypertrofe, type 11 (CMH11) |
ACTC1 |
612098 |
| Cardiomyopathie, hypertrofe, type 2 |
TNNT2 |
115195 |
| Cardiomyopathie, hypertrofe, type 3 (CMH3) |
TPM1 |
115196 |
| Cardiomyopathie, hypertrofe, type 4 |
MYBPC3 |
115197 |
| Cardiomyopathie, hypertrofe, type10 (CMH10) |
MYL2 |
608758 |
| Cardiomyopathie, hypertrofische, type 7 (CMH7) |
TNNI3 |
191044 |
| Cardiomyopathie, restrictieve |
TNNI3 |
115210 |
| Cataract & Cardiomyopathie, dilaterende |
CRYAB |
123590 |
| Catecholaminergic induced polymorphic ventrikel fibrillation type2 (CPVT2) |
CASQ2 |
611938 |
| CD3γ-deficiënte SCID |
CD3G |
186740 |
| CD3δ-deficiënte SCID |
CD3D |
186790 |
| CD3ε-deficiënte SCID |
CD3E |
186830 |
| CD40 ligand deficiëntie |
CD40LG |
300386 |
| Cerebral Cavernous Malformations 1 (CCM1) |
KRIT1 |
604214 |
| Cerebral Cavernous Malformations 3 (CCM3) |
PDCD10 |
603285 |
| 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 |
| CINCA syndroom |
NLRP3 |
607115 |
| Cleft lip or palate |
IRF6 |
607199 |
| Cleft lip or palate |
SUMO1 |
601912 |
| Cleft palate with ankyloglossia |
TBX22 |
300307 |
| Cleidocraniale Dysplasie (CCD) |
RUNX2 |
119600 |
| Congenital Amegakaryocytic Thrombocytopenia (CAMT) |
MPL |
604498 |
| Congenital Disorder of Glycosylation (CDG1A) |
PMM2 |
212065 |
| Congenital heart disease |
GATA6 |
601656 |
| Congenital heart disease |
GATA5 |
611496 |
| Cryptogene progressieve myoclone epilepsie |
KCTD7 |
611726 |
| Currarino, Trias van |
HLXB9 |
176450 |
| Diabetes insipidus, centrale |
AVP |
125700 |
| Diabetes insipidus, nefrogene, autosomaal dominant |
AQP2 |
125800 |
| Diabetes insipidus, nefrogene, autosomaal recessief |
AQP2 |
125800 |
| Diabetes insipidus, nefrogene, X-gebonden |
AVPR2 |
304800 |
| Early Infantile Epileptic Encephalopathy type 10 |
PNKP |
613402 |
| Early Infantile Epileptic Encephalopathy type 8 |
ARHGEF9 |
300088 |
| Early infantile epileptic encephalopathy, type 1 |
ARX |
308350 |
| Early infantile epileptic encephalopathy, type 11 |
SCN2A |
613721 |
| Early infantile epileptic encephalopathy, type 2 |
CDKL5 |
300672 |
| Early infantile epileptic encephalopathy, type 3 |
SLC25A22 |
609304 |
| Early infantile epileptic encephalopathy, type 4 |
STXBP1 |
612164 |
| Early infantile epileptic encephalopathy, type 6 |
SCN1A |
607208 |
| Early infantile epileptic encephalopathy, type 7 |
KCNQ2 |
613720 |
| Early infantile epileptic encephalopathy, type 9 |
PCDH19 |
300088 |
| Ectodermale Dysplasie |
WNT10A |
257980 |
| Ehlers-Danlos syndrome, the musculocontractural type |
CHST14 |
601776 |
| Emery-Dreifuss, spierdystrofie, type 6 (EDMD6) |
FHL1 |
300696 |
| Epilepsie |
GABRG2 |
607681 |
| Epilepsie |
SCN1B |
600235 |
| Epilepsie, Autosomaal Dominante Laterale Temporaalkwab Epilepsie (ADLTE) |
LGI1 |
600512 |
| Epilepsie, Benigne Familiaire Neonatale Convulsies (BFNC) |
KCNQ2 |
121200 |
| Epilepsie, Benigne Familiaire Neonatale Convulsies 2 (BFNC2) |
KCNQ3 |
121201 |
| Epilepsie, Generalized with Febrile Seizures Plus (GEFS) |
SCN1A |
604233 |
| Epilepsie, Progressieve Myoclonische type 1 (EPM1)(Unverricht Lundborg disease) |
CSTB |
254800 |
| Epilepsie, Progressieve Myoclonische type 2A (EPM2A) (Lafora disease) |
EPM2A |
254780 |
| Epilepsie, Progressieve Myoclonische type 2B (EPM2B) (Lafora disease) |
NHLRC1 |
254780 |
| Epilepsie, pyridoxine afhankelijk |
ALDH7A1 |
266100 |
| Fabry, ziekte van |
GLA |
301500 |
| Familial Vesicoureteral Reflux, VUR2 |
ROBO2 |
610878 |
| Female restricted epilepsy with mental retardation (EFMR) |
PCDH19 |
300088 |
| Fenylketonurie (PKU) |
PAH |
261600 |
| Fenylketonurie type III |
PTPS |
261640 |
| Feochromocytomen, erfelijke |
MAX |
171300 |
| Floating-Harbor Syndroom |
SRCAP |
136140 |
| FMTC |
RET |
155240 |
| Focal segmental glomerulosclerosis 5 (FSGS5) |
INF2 |
613237 |
| Focale segmentale glomerulosclerosis 2; FSGS2 |
TRPC6 |
603965 |
| Focale Segmentale Glomerulosclerosis 3; FSGS3 |
CD2AP |
607832 |
| Fragiel X syndroom (FRAXA) |
FMR1 |
300624 |
| Fraser syndroom |
FRAS1 |
607830 |
| Fraser syndroom |
FREM2 |
608945 |
| Frontotemporal dementia (FTD) |
C9ORF72 |
600274 |
| Frontotemporal dementia (FTD) |
GRN |
607485 |
| Frontotemporale dementie (FTD), ziekte van Pick |
MAPT |
172700 |
| Gitelman syndroom |
SLC12A3 |
263800 |
| GLUT1 deficiëntie, glucose transport defect |
SLC2A1 |
606777 |
| Glycerolkinase deficiëntie |
GK |
307030 |
| Glycine Encephalopathie/ Non-ketotische hyperglycinemie / Aminomethyltransferase deficiëntie |
AMT |
605899 |
| Glycine Encephalopathie/ Non-ketotische hyperglycinemie / Glycine cleavage system H-protein deficiency |
GCSH |
605899 |
| Glycine Encephalopathie/ Non-ketotische hyperglycinemie / Glycine decarboxylase deficiëntie |
GLDC |
605899 |
| Glycogeenstapelingsziekte type 2 (ziekte van Pompe) |
GAA |
232300 |
| Hartnup disorder |
SLC6A19 |
234500 |
| Hemochromatose, type 1 |
HFE |
235200 |
| Hemofagocyterende lymfo histiocytose (HLH) type 2 |
PRF1 |
170280 |
| Hemofagocyterende lymfo histiocytose (HLH) type 3 |
UNC13D |
608897 |
| Hemofagocyterende lymfo histiocytose (HLH) type 4 |
STX11 |
605014 |
| Hemofagocyterende lymfohistiocytose type 5 |
STXBP2 |
613101 |
| Hemofilie A |
FVIII |
306700 |
| Hemolytisch Uremisch syndroom |
CFI |
612923 |
| Holt-Oram syndroom |
TBX5 |
142900 |
| HPRT-gerelateerde jicht & Lesch-Nyhan syndroom |
HPRT1 |
300323 |
| Hydatidiform mole, NLRP7 |
NLRP7 |
231090 |
| Hyper IgD syndroom (mevalonaat kinase deficiëntie) |
MVK |
260920 |
| Hyper IgE recurrent infection syndrome, autosomal dominant |
STAT3 |
147060 |
| Hypodontia |
PAX9 |
106600 |
| Hypodontie, autosomaal dominant |
MSX1 |
106600 |
| Hypoparathyroidism, Sensorineural deafness and renal disease (HDR) |
GATA3 |
146255 |
| ICOS deficiëntie |
ICOS |
604558 |
| IL1RN deficiëntie (DIRA) |
IL1RN |
147679 |
| Inclusielichaam myopathie met vroegtijdige ziekte van Paget en frontotemporale dementia |
VCP |
167320 |
| Inflammatoire Arthritis |
PLCG2 |
614468 |
| Interstitiële longfibrose en congenitaal nefrotisch syndroom |
ITGA3 |
605025 |
| Joubert Syndroom type 1 |
NPHP1 |
213300 |
| Joubert syndroom type 12 |
KIF7 |
200990 |
| Joubert Syndroom type 3 |
AHI1 |
608629 |
| Leptin receptor; lepr obesity, morbid, with hypogonadism, included |
LEPR |
601007 |
| Lesch-Nyhan syndroom |
HPRT1 |
308000 |
| Leukemie, acute myeloide (AML), familiaire |
RUNX1 |
151385 |
| Leukemie, acute myeloide (AML), familiaire |
CEBPA |
116897 |
| Lymfoproliferatief syndroom, X-gebonden (XLP) |
XIAP |
300079 |
| Lynch Syndroom (HNPCC) |
MLH1 |
609310 |
| Lynch Syndroom (HNPCC) |
MSH2 |
120435 |
| Lynch Syndroom (HNPCC) |
MSH6 |
600678 |
| Mannelijke infertiliteit, DSD, POF. |
NR5A1 |
184757 |
| MCAD deficiëntie (midden lang ketenacyl-CoA dehydrogenase) |
ACADM |
201450 |
| McCune-Albright syndroom (MAS) |
GNAS |
174800 |
| Mediterrane koorts, familiaire |
MEFV |
249100 |
| Mentale retardatie met epilepsie, X-gebonden |
ARX |
308350 |
| Mentale retardatie, autosomaal dominant, type 20 (stereotypic movements, epilepsy, cerebral malfomations |
MEF2C |
613443 |
| Metachromatische leukodystrofie |
ARSA |
250100 |
| Methylmalonic aciduria (cobalamin deficiency), type cblA |
MMAA |
251100 |
| Mevalonaat kinase deficiëntie (mevalonacidurie) |
MVK |
251170 |
| Microvillus inclusion disease (MVID) of Diarrhea 2, with microvillus atrophy (DIAR2) |
MYO5B |
251850 |
| Muckle-Wells syndroom |
NLRP3 |
191900 |
| Muckle-Wells syndroom (MWS) |
NLRP3 |
191900 |
| Multipele endocriene neoplasie |
CDKN1B |
600778 |
| Multipele endocriene neoplasie |
AIP |
605555 |
| Multipele Endocriene Neoplasie type 1A |
CDKN1A |
116899 |
| Multipele Endocriene Neoplasie type 2B |
CDKN2B |
600431 |
| Multipele Endocriene Neoplasie type 2C |
CDKN2C |
603369 |
| Multiple endocrine neoplasie 1 |
MEN1 |
131100 |
| Multiple endocrine neoplasie 2A |
RET |
171400 |
| Multiple endocrine neoplasie 2B |
RET |
162300 |
| Myotone dystrofie type 1 |
DMPK |
605377 |
| Myotone dystrofie type 2 |
CNBP |
602668 |
| Nakajo Syndrome |
PSMB8 |
256040 |
| Nefrotisch syndroom met diffuse mesangiale sclerose (IDMS) |
WT1 |
256370 |
| Nefrotisch syndroom type 3, NPHS3 |
PLCE1 |
610725 |
| Nefrotisch syndroom, congenitaal |
NPHS1 |
256300 |
| Nefrotisch syndroom, focaal gesegmenteerde glomerulosclerose (FSGS1) |
ACTN4 |
603278 |
| Nefrotisch syndroom, steroïde resistent |
NPHS2 |
600995 |
| Nemaline myopathie 6 (NEM6) |
KBTBD13 |
609273 |
| Nemaline myopathie type 1 |
TPM3 |
609284 |
| Nemaline myopathie type 4 |
TPM2 |
609285 |
| Nemaline Myopathie type 5 (NEM5) |
TNNT1 |
605355 |
| Nemaline myopathy type 3 |
ACTA1 |
161800 |
| Nemaline myopathy type 7 |
CFL2 |
610687 |
| Nephronophthisis |
NPHP1 |
256100 |
| Nephronophtisis-3 |
NPHP3 |
608002 |
| Niercelcarcinoom, Papillair |
MET |
164860 |
| Obesitas |
MC4R |
601665 |
| Obesity, severe, dü to leptin deficiency, included |
LEP |
164160 |
| Oculofaciocardiodental syndroom (OFCD), Syndromaal Microphthalmia 2 (MCOPS2), BCOR |
BCOR |
300166 |
| PAPA syndroom, Pyogene Steriele Arthritis, Pyoderma Gangrenosum en Acne |
PSTPIP1 |
604416 |
| Persisterende Mulleriaanse buis syndroom, type 1 |
AMH |
261550 |
| Phaeochromocytomen, erfelijke |
SDHC |
171300 |
| Phaeochromocytomen, erfelijke |
SDHD |
171300 |
| Phaeochromocytomen, erfelijke |
SDHB |
171300 |
| Pierson syndroom |
LAMB2 |
609049 |
| Pitt Hopkins-like Syndroom 2 |
NRXN1 |
600565 |
| Polyposis coli, familiaire adenomateuze (FAP) |
SMAD4 |
174900 |
| Polyposis coli, juveniele |
SMAD4 |
174900 |
| Progressieve Myoclonische Epilepsie type 1B |
PRICKLE1 |
612437 |
| Progressieve Myoclonische Epilepsie type 6 |
GOSR2 |
614018 |
| Proopiomelanocortin deficiency |
POMC |
609734 |
| Proopiomelanocortin; POMC |
POMC |
176830 |
| Proprotein convertase 1/3 deficiency obesity and endocrinopathy dü to impaired processing of prohormones |
PCSK1 |
600955 |
| Proprotein convertase, subtilisin/kexin-type, 1; PSCK1 |
PCSK1 |
162150 |
| Pseudohypoparathyreoidie type IA (PHP-IA) |
GNAS |
103580 |
| Psoriasis, generalized pustular |
IL36RN |
614204 |
| Pyridoxine afhankelijke epilepsie (PDE) |
PNPO |
610090 |
| Pyruvaatkinase deficiëntie |
PKLR |
266200 |
| Renaal coloboom syndroom |
PAX2 |
120330 |
| Rendu Osler Weber (HHT1) |
ENG |
187300 |
| Rendu Osler Weber (HHT2) |
ALK1 |
600376 |
| Rett syndroom |
MECP2 |
312750 |
| Rett syndroom, congenitale variant |
FOXG1 |
613454 |
| RETT syndroom, early-onset met epilepsie en spasmen |
CDKL5 |
300672 |
| Rolandische epilepsie, mentale retardatie, X-gebonden, met spraak dyspraxie (RESDX) |
SRPX2 |
300643 |
| SCA23 |
PDYN |
610245 |
| Schizencephalie / congenital bilateral perisylvian syndroom |
EMX2 |
269160 |
| SCID, X-gebonden |
IL2RG |
308380 |
| Serine Biosynthese Defect |
PSAT1 |
610992 |
| Serine Biosynthese Defect |
PSPH |
614023 |
| Severe combined immunodeficiency (SCID). RAG1 |
RAG1 |
601457 |
| Severe combined immunodeficiency (SCID). RAG2 |
RAG2 |
601457 |
| Severe permanent tooth agenesis (oligodontia) |
AXIN2 |
604025 |
| Spinale spieratrofie (SMA) |
SMN1 |
253300 |
| Spinocerebellaire ataxie type 1 (SCA1) |
ATXN1 |
164400 |
| Spinocerebellaire ataxie type 12 (SCA12) |
PPP2R2B |
604326 |
| Spinocerebellaire ataxie type 13 (SCA13) |
KCNC3 |
605259 |
| Spinocerebellaire ataxie type 14 (SCA14) |
PRKCG |
605361 |
| Spinocerebellaire ataxie type 17 (SCA17) |
TBP |
607136 |
| 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 |
| Subtelomere deleties bij mentale retardatie |
n.v.t. |
n.v.t. |
| Susceptibilty to Hirschsprung Disease 3 (HSCR3) |
GDNF |
613711 |
| Tetralogie van Fallot |
NKX2.5 |
187500 |
| Thrombocythemia, essential |
THPO |
187950 |
| Thyroid-stimulerend hormoon resistentie |
GNAS |
603372 |
| TRAPS (familial hibernian fever) |
TNFRSF1A |
142680 |
| Tyrosinemie type 1 |
FAH |
276700 |
| Uniparentale disomie (UPD) |
n.v.t. |
n.v.t. |
| Velocardiofaciaal Syndroom (VCF)/ DiGeorge Syndroom |
TBX1 |
192430 |
| Von Hippel-Lindau, ziekte van |
VHL |
193300 |
| Wilson, ziekte van |
ATP7B |
277900 |
| Wiskott Aldrich syndroom |
WAS |
300392 |
| X-gebonden lymfoproliferatief syndroom (XLP) |
SH2D1A |
300490 |
| X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy XMPMA |
FHL1 |
300696 |
| ZAP70-deficiënte SCID |
ZAP7 |
176947 |
