Neurodevelopmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
COMPLEX NEURODEVELOPMENTAL DISORDER
MONDO:0100038
NBEA Unknown
15071111 23100440 23153818 25363760 25363768 25484298 26100104 30269351 31452935
CTD ClinGen
NCKAP1 Unknown
17481396 33157009
ClinGen HPO
NCOR1 Unknown — GenCC
NEUROD1 Unknown — GenCC
NOVA2 Unknown
23359859 27223325 32197073 35607920
ClinGen Disgenet
NPAS4 Unknown — GenCC
NRXN1 Unknown
17322880 20162629 22348092 23536886 23840597 25017069 26279266
CTD ClinGen
NTNG1 Unknown
22495309 25411505 27345935 28191889 31692205 32348754 33057194
ClinGen GWAS catalog
OSBPL9 Unknown — GenCC
OTUD7A Unknown
31997314 33381903
ClinGen GWAS catalog
PCDHGA5 Unknown — GenCC
PHF12 Unknown
11390640 27479843 28135719 28263302 31981491 33004838 33057194 34740920 35982160
ClinGen ClinVar
PHF21A Unknown
12032298 22770980 30487643 31649809
ClinGen GWAS catalog
PHF5A Unknown
37422718 33811463
ClinVar
PIGA Unknown
22305531 24259184 24259288 24357517 24706016 25326635 25473036 25885527 26545172 26923721 26993267 27126216 28133863 28441409 29414593 29502866 29656098 29974678 32452540 32694024 34875027 36324500 37961693
ClinGen Disgenet
PIGO Unknown
22683086 24417746 27177984 28337824
ClinGen Disgenet
PIP5K1C Unknown — GenCC
PIR Unknown — GenCC
PLXNA1 Unknown
34054129 28464511 34415653
CTD
PLXNA2 Unknown — GenCC
POFUT1 Unknown — GenCC
POU3F3 Unknown
11859196 2739723 31303265 33645921 37165752
ClinGen GWAS catalog
PPFIA3 Unknown — GenCC
PPP2CA Unknown
23860660 30595372 33106617 36531959
ClinGen Disgenet
PPP2R1A Unknown
26168268 33106617
ClinGen GWAS catalog
PPP2R5C Unknown
39978342
GWAS catalog
PPP2R5D Unknown
21482799 25533962 25972378 26168268 26576547 34241636 36216457
ClinGen GWAS catalog
PRICKLE2 Unknown
21276947 29390993 34092786
ClinGen GWAS catalog
PRKD1 Unknown — GenCC
PSMC3 Unknown — GenCC
PSMD11 Unknown — GenCC
PTRHD1 Unknown — GenCC
PURA Unknown
12972605 16511857 22010047 25439098 29097605 29150892
ClinGen Disgenet
RAB1A Unknown
37924809 38091987
Orphanet
RAB35 Unknown — GenCC
RABGAP1 Unknown
36083289
GWAS catalog
RALA Unknown
30500825 30761613 32004447 33875846 35846790 36170840
ClinGen GenCC
RALGAPA1 Unknown — GenCC
RALGAPB Unknown — GenCC
RALGDS Unknown — GenCC
RARS2 Unknown — GenCC
RBL2 Unknown — GenCC
RELN Unknown — ClinGen
RFX3 Unknown
15121860 25844147 27525107 31981491 33658631
ClinGen Disgenet
RFX7 Unknown
25363760 33658631 36864036
ClinGen GenCC
RHEB Unknown — GenCC
RHOBTB2 Unknown
33456446 37165955
ClinGen Disgenet
RING1 Unknown
11060235 25725044 26674308 29386386
GWAS catalog
RORB Unknown
27352968 32162308 38165337
ClinGen GWAS catalog
RPH3A Unknown — GenCC