Intellectual developmental disorder

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56
617854C4693389
CLTC Unknown — Disgenet, HPO
MMP20 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57
618050C4748003
TLK2 Unknown — Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58
618106C4748195
SET Unknown — Disgenet, HPO
SETSIP Unknown — Disgenet —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
618522C5193190
CAMK2G Unknown
23033978 30184290
Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6
C3151411
GRIN2B Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
613970OMIM:613970
GRIN2B Unknown — CTD, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES
618587C5231497
AP2M1 Unknown — Disgenet, HPO
PIP5K1A Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
C5231400618009
DZIP1 Unknown — Disgenet
MED13 Unknown — Disgenet, HPO
WDR1 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
C5394083618793
ACADVL Unknown — Disgenet
DLG4 Unknown — Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
C5543371
OCRL Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
614104C5568143OMIM:614104
DYRK1A Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 1
249500C1855304
PRSS12 Unknown — Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12
611090C1970200
ST3GAL3 Unknown — Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13
613192C2750791
TRAPPC9 Unknown — Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14
614020C3151462OMIM:614020
TECR Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18
C3280265
MED23 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY
614249OMIM:614249
MED23 Unknown — CTD, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2
607417C1843942
CRBN Unknown — Disgenet, HPO —
TRNT1 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 24
C3280543
TUSC3 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27
614340C3280538OMIM:614340
LINS1 Unknown — CTD, Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3
C1838023608443
BRME1 Unknown — Disgenet —
CC2D1A Unknown — Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
614499C3281044OMIM:614499
CRADD Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37
615493C3809672OMIM:615493
ANK3 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38
615516C3809753OMIM:615516
HERC2 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39
C3809853615541OMIM:615541
MAK16 Unknown — Disgenet —
TTI2 Unknown — CTD, Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41
615637C3810225OMIM:615637
KPTN Unknown — CTD, Disgenet, HPO
PPP2R5C Unknown — Disgenet
RAB5C Unknown — Disgenet
SCAMP5 Unknown — Disgenet —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 43
615817C4014386OMIM:615817
WASHC4 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44
615942C4014745OMIM:615942
METTL23 Unknown — CTD, Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 45
615979C4014864OMIM:615979
FBXO31 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46
616116C4015283OMIM:616116
NDST1 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47
616193C4015444OMIM:616193
FMN2 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48
616269OMIM:616269
SLC6A17 Unknown
25704603
CTD, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5
611091C1970199
NSUN2 Unknown — Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 50
616460C4225319OMIM:616460
EDC3 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51
616739C4225220OMIM:616739
HNMT Unknown
33310825
CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52
616887C4225168OMIM:616887
LMAN2L Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54
617028C4310755OMIM:617028
TNIK Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56
617125C4310703OMIM:617125
ZC3H14 Unknown — CTD, Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57
617188C4310673OMIM:617188
MBOAT7 Unknown — CTD, Disgenet, HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58
617270C4310641OMIM:617270
ELP2 Unknown — CTD, Disgenet, HPO —
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66
C4748732
ANK3 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7
611093C1970197
TUSC3 Unknown — Disgenet, HPO
INTELLECTUAL DISABILITY
C3714756MONDO:0001071MESH:D008607
ANK3 Unknown
18439406 23390136 25552556 26539891 29302074 31451636 32404165 36777705 38988293
ClinGen, Disgenet, GWAS catalog
BRME1 Unknown — Disgenet —
CC2D1A Unknown — Disgenet —
CRBN Unknown
15557513 18414909 21995942 23983124 28097321 28143899 29459374
ClinGen, ClinVar, Disgenet —
ELP2 Unknown
21937992
CTD —
NDST1 Unknown
21937992
CTD
PPP2R5C Unknown — Disgenet
PRSS12 Unknown — Disgenet —
ST3GAL3 Unknown — Disgenet
TECR Unknown
21212097 24220030 33482198
ClinGen, Disgenet, GWAS catalog
TTI2 Unknown
21937992
CTD —
WASHC4 Unknown — Disgenet
ZC3H14 Unknown
21734151 28666327
ClinGen, Disgenet, GWAS catalog —
INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION
464311
DYRK1A Unknown
25641759 25944381 26677511
Orphanet
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE
MONDO:0100597
FBXO31 Unknown — GenCC
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 14
MONDO:0013528
TECR Unknown — ClinVar, GenCC
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 56
MONDO:0014930
ZC3H14 Unknown — ClinVar, GenCC —
INTELLECTUAL IMPAIRMENT
C0683322
GRIN2B Unknown — Disgenet
MENTAL RETARDATION
C0025362
CC2D1A Unknown — Disgenet —
DYRK1A Unknown
21294719 23099646 23160955 25641759 25707398 25920557 25944381 26922654 28053047 29034068 31263215 31803247
Disgenet
ELP2 Unknown
21937992
Disgenet —
GRIN2B Unknown
20890276 23033978 23160955 23718928 24272827 27605359 28377535 28734458 30151416 31085877
Disgenet
LINS1 Unknown
21937992
Disgenet —
METTL23 Unknown — Disgenet —
NDST1 Unknown — Disgenet
PRSS12 Unknown — Disgenet —
TTI2 Unknown
21937992
Disgenet —
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MESH:C565406
PRSS12 Unknown
12459588
CTD —
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
MESH:C567019
ST3GAL3 Unknown — CTD
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
MESH:C567714
TRAPPC9 Unknown
17120046 20004763 20004764 20004765 22549410 22989526 29031008 30853973 31703139 32162493 33513295 33719327 33921338 34983975 35042660 36158060 36348459 36574751 38058760
CTD
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2
MESH:C564404
CRBN Unknown — CTD —
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
MESH:C563929
CC2D1A Unknown — CTD —
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MESH:C567018
NSUN2 Unknown — CTD
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MESH:C567016
TUSC3 Unknown — CTD
All809 Causal429 Unknown517
Related Diseases Diseases that share the most curated genes with Intellectual developmental disorder.
5 View disease cluster →
Neurodevelopmental disorder 354 shared genesCHD8, FOXG1, UBE3A, CHRNA7, SIN3A, USP7, ANKRD11, RAI1, BPTF, PSMD12, NFIX, SKI +342 more Related via 354 shared genes including CHD8, FOXG1, UBE3A. Global developmental delay 191 shared genesFOXG1, UBE3A, ANKRD11, KANSL1, BPTF, NFIX, SHANK3, WWOX, PTEN, ACTL6A, ADNP, VCP +179 more Related via 191 shared genes including FOXG1, UBE3A, ANKRD11. Non-specific syndromic intellectual disability 154 shared genesCHD8, CHRNA7, PSMD12, HNRNPU, JMJD1C, ACTL6A, VCP, CACNA1D, ACTL6B, ANK3, CAMK4, CAPZA2 +142 more Related via 154 shared genes including CHD8, CHRNA7, PSMD12. Autism 261 shared genesSOX5, CHD8, FOXG1, UBE3A, CHRNA7, SIN3A, ANKRD11, RAI1, NF1, KANSL1, NFIX, JMJD1C +249 more Related via 261 shared genes including SOX5, CHD8, FOXG1. Nonsyndromic intellectual disability 90 shared genesCDH15, CLIP1, CRADD, CRBN, CUX1, DEAF1, EPB41L1, FMN2, GABBR1, GRIA1, GRIK2, GRIN2B +78 more Related via 90 shared genes including CDH15, CLIP1, CRADD.