Neurodevelopmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
COMPLEX NEURODEVELOPMENTAL DISORDER
MONDO:0100038
TP53TG5 Unknown — GenCC
TRA2B Unknown — GenCC
TRAPPC6A Unknown — GenCC
TRERF1 Unknown — GenCC
TRIM23 Unknown — GenCC
TRIP12 Unknown
25418537 27848077 28251352 32424948
ClinGen Disgenet
TUBA3E Unknown — GenCC
TUBAL3 Unknown — GenCC
UNC79 Unknown — GenCC
USP14 Unknown
35066879 38469793
GWAS catalog
USP2 Unknown — GenCC
USP8 Unknown — GenCC
VCP Unknown — GenCC
WAPL Unknown — GenCC
WDFY3 Unknown — GenCC
WDFY4 Unknown — GenCC
WSB2 Unknown — GenCC
YWHAE Unknown — GenCC
YWHAZ Unknown
22124272 23999528 29075177 31024343 35143101 35501409 36001342
CTD
YY1 Unknown
28575647 32627382 33369188 34729769 35027293 35829845 37658636 39987231
ClinGen GWAS catalog
ZBTB18 Unknown
24193349 27598823 29573576 31238879 36721027
ClinGen Disgenet
ZBTB47 Unknown — GenCC
ZBTB7A Unknown — GenCC
ZFHX3 Unknown — GenCC
ZFHX4 Unknown — GenCC
ZFTRAF1 Unknown — GenCC
ZMIZ1 Unknown
30639322 31833199
ClinGen GWAS catalog
ZNF292 Unknown — ClinGen GenCC
ZNF407 Unknown — GenCC
ZNF589 Unknown — GenCC
ZNF804A Unknown — GenCC
ZNRF3 Unknown
39168120
GWAS catalog
COMPLEX NEURODEVELOPMENTAL DISORDER WITH MOTOR FEATURES
MONDO:0100516
ADD3 Unknown
23836506 29768408 30369941
ClinGen HPO
CACNA1B Unknown
16939638 30982612 37095367
ClinGen Disgenet
EMC1 Unknown
26942288 29271071 32092440 35234901
ClinGen ClinVar
KMT2B Unknown
23426673 29276005 33150406
ClinGen GWAS catalog
COMPLEX NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT CONGENITAL ANOMALIES
MONDO:0100465
KIF4A Unknown
24812067 30679815 34346154
CTD ClinGen
MED16 Unknown — GenCC
MYH10 Unknown
15034141 25003005 25356899 30712878 35980381 9356462
ClinGen GWAS catalog
RERE Unknown
20164929 23451234 27087320 29330883 31452935
ClinGen GWAS catalog
TRRAP Unknown
23042115 24792116 30424743 30827496
ClinGen GWAS catalog
CTCF-RELATED NEURODEVELOPMENTAL DISORDER
363611
CTCF Causal
23746550
Orphanet
CTNNB1-RELATED NEURODEVELOPMENTAL DISORDER AND/OR VITREORETINOPATHY
MONDO:0100571
CTNNB1 Unknown — ClinGen
CTR9-RELATED NEURODEVELOPMENTAL DISORDER
MONDO:1040006
CTR9 Causal
35499524 35717577 35468861
CTD ClinGen
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
620327C5830433MONDO:0957225
MED11 Causal
36001086
ClinVar Disgenet GWAS catalog HPO
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
618170C4748527MONDO:0100095
ADPRS Causal
28333917 30100084 30401461 33528672
ClinVar Disgenet GWAS catalog HPO
NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE
618868C5394335MONDO:0030028
SLC44A1 Causal
28097321 31855247
ClinVar Disgenet GWAS catalog HPO
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
617672C4540086
UBTF Unknown — Disgenet HPO
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
620636C5882726MONDO:0957985
CAPRIN1 Unknown — ClinVar Disgenet GenCC HPO
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
618276C4748934MONDO:0032650
AGTPBP1 Causal
31102495 30976113 30420557 28600779
ClinGen ClinVar Disgenet HPO