Intellectual developmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES
617787C4540470
NAA15 Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51
617788C4540474
KMT5B Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52
617796C4540478
ASH1L Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53
617798C4540481
CAMK2A Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54
617799C4540484
CAMK2B Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES
617831C4693371
NUS1 Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56
617854C4693389
CLTC Unknown — Disgenet HPO
MMP20 Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57
C4748003618050
AUTS2 Unknown — Disgenet
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 — 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 63, WITH MACROCEPHALY
618825C5394205MONDO:0032939
TRIO Causal
26235986 27418539 32109419 28928363
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
C5543067619188MONDO:0030934
MLIP Causal — Disgenet
ZNF292 Causal
22495311 25849321 27824329 28191890 29158550 29904178 30564305 31723249
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
619320C5543371MONDO:0023657
KDM4B Causal
27257017 28407358 29844188 33232677
ClinGen ClinVar Disgenet HPO
OCRL Unknown — Disgenet
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66
619910C5677000MONDO:0030891
ATP2B1 Causal
15178683 28135719 28191890 31785789 33077954 35358416
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67
619927C5677006MONDO:0030964
GRIA1 Causal
35675825
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
619934C5677008MONDO:0030969
KMT2B Causal
25405613
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69
617863C5676896MONDO:0029465
LMAN2L Causal
31020005
ClinVar Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
614104C5568143OMIM:614104
DYRK1A Unknown — CTD Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
620157C5774271MONDO:0859333
SETD2 Causal — ClinVar Disgenet GenCC HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
620330C5830437MONDO:0957228
RFX7 Causal
25363768 28135719 28191890 29717269 33658631
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72
620439C5830612MONDO:0957397
SRRM2 Causal — ClinVar Disgenet GenCC HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
620450C5830636MONDO:0957536
TAF4 Causal
28191890 33875846 35904126
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
620688C5882749MONDO:0958203
HNRNPC Causal — ClinVar Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75
620988MONDO:0975838
DHX9 Causal
37467750
ClinVar GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 76
621285
MARK2 Causal — ClinVar
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
C1838023
BRME1 Unknown — Disgenet