Intellectual developmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3
608443C1838023
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 — CTD HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5
611091C1970199
NSUN2 Unknown — Disgenet HPO
SYNGAP1 Unknown — Disgenet
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 59
617323C4310619OMIM:617323
IMPA1 Unknown — CTD Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6
611092C1970198
GRIK2 Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60
617432C4479476OMIM:617432
TAF13 Unknown — CTD Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61
617773C4540424
RUSC2 Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63
618095C4748167
CAMK2A Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64
618103
LINGO1 Unknown — HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65
618109C4748219
KDM5B Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66
C4748732618221
ANK3 Unknown — Disgenet
FERRY3 Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
618295C4749019MONDO:0032662
EIF3F Causal
30409806
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
618302C4749033MONDO:0032665
TRMT1 Causal — ClinVar Disgenet GenCC HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
C5193067MONDO:0032715
ZBTB11 Causal
29893856
ClinVar Disgenet GWAS catalog
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7
611093C1970197
TUSC3 Unknown — Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
618402C5193077MONDO:0032729
RSRC1 Causal
32227164 29522154 28640246
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
618504C5193133MONDO:0032789
ALKBH8 Causal
34757492 33544954 31079898
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72
618665C5231452MONDO:0032860
METTL5 Causal
27457812 28097321 28940097
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73
619717C5676902MONDO:0030533
NAA20 Causal
34230638
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74
617169C4310684MONDO:0014951
APC2 Causal
25753423
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
619827C5676961MONDO:0030785
PIDD1 Causal
28397838 29302074 33414379 34163010
ClinGen ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76
619931C5677007MONDO:0030968
GRIA1 Causal — ClinVar Disgenet GenCC HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77
619988C5774193MONDO:0031031
CEP104 Causal — ClinVar Disgenet HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
620237C5830269MONDO:0859373
WDR11 Causal
34413497
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
620393C5830553MONDO:0957288
TPR Unknown
24082139 25363768 28191890 34494102
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY
620653C5882733MONDO:0957999
CASP2 Causal
21937992 37880421
ClinVar Disgenet GWAS catalog HPO
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
620700C5882758MONDO:0958204
ASCC3 Causal
21937992
ClinVar Disgenet GWAS catalog HPO