Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
autosomal dominant intellectual developmental disorder 26 | AUTS2* | Auts2* | 1 model | Alliance of Genome Resources | |||
autosomal dominant intellectual developmental disorder 38 | EEF1A2* | Eef1a2* | 1 model | Alliance of Genome Resources | |||
autosomal dominant intellectual developmental disorder 39 | MYT1L* | Myt1l* | 2 models | Alliance of Genome Resources | |||
autosomal dominant intellectual developmental disorder 7 | DYRK1A* | Dyrk1a* | 1 model | Alliance of Genome Resources | |||
autosomal recessive intellectual developmental disorder 41 | KPTN* | Kptn* | 1 model | Alliance of Genome Resources | |||
Borjeson-Forssman-Lehmann syndrome | PHF6* | Phf6* | 2 models | Alliance of Genome Resources | |||
Christianson syndrome | SLC9A6* | Slc9a6* | 3 models | Alliance of Genome Resources | |||
Coffin-Siris syndrome 1 | ARID1B* | Arid1b* | 1 model | Alliance of Genome Resources | |||
GAND syndrome | GATAD2B* | Gatad2b* | 1 model | Alliance of Genome Resources | |||
Kaufman oculocerebrofacial syndrome | UBE3B* | Ube3b* | 1 model | Alliance of Genome Resources | |||
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | MAST1* | Mast1* | 1 model | Alliance of Genome Resources | |||
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | BPTF* | Bptf* | 1 model | Alliance of Genome Resources | |||
neurodevelopmental disorder with midbrain and hindbrain malformations | ARHGEF2* | Arhgef2* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual developmental disorder 111 | SLITRK2* | Slitrk2* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability | GDI1* | Gdi1* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability 30 | PAK3* | Pak3* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability 72 | RAB39B* | Rab39b* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability 9 | FTSJ1* | Ftsj1* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability 98 | NEXMIF* | Nexmif* | 1 model | Alliance of Genome Resources | |||
Pierpont syndrome | TBL1XR1* | Tbl1xr1* | 1 model | Alliance of Genome Resources | |||
Renpenning syndrome | PQBP1* | Pqbp1* | 1 model | Alliance of Genome Resources | |||
spastic tetraplegia, thin corpus callosum, and progressive microcephaly | SLC1A4* | Slc1a4* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual developmental disorder bain type | HNRNPH2* | Hnrnph2* | 3 models | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability 5 | AP1S2* | Ap1s2* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Claes-Jensen type | KDM5C* | Kdm5c* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Raymond type | ZDHHC9* | Zdhhc9* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Siderius type | PHF8* | Phf8* | 1 model | Alliance of Genome Resources | |||
Xia-Gibbs Syndrome | AHDC1* | Ahdc1* | 1 model | Alliance of Genome Resources | |||
X-linked intellectual disability-short stature-overweight syndrome | THOC2* | Thoc2*, Thoc2l | 1 model | Alliance of Genome Resources | |||
autosomal dominant intellectual developmental disorder | AUTS2 | Auts2* | 1 model | Alliance of Genome Resources | |||
autosomal dominant intellectual developmental disorder | MBD5 | Mbd5* | 1 model | Alliance of Genome Resources | |||
autosomal dominant intellectual developmental disorder | ZBTB18 | Zbtb18* | 1 model | Alliance of Genome Resources | |||
autosomal recessive intellectual developmental disorder | CRBN | Crbn* | 2 models | Alliance of Genome Resources | |||
Coffin-Siris syndrome | ARID1A | Arid1a* | 2 models | Alliance of Genome Resources | |||
intellectual disability | CUL4B | Cul4b* | 1 model | Alliance of Genome Resources | |||
intellectual disability | ELP2 | Elp2* | 3 models | Alliance of Genome Resources | |||
intellectual disability | FGF13 | Fgf13* | 1 model | Alliance of Genome Resources | |||
intellectual disability | ARMCX5-GPRASP2, GPRASP2, GPRASP3 | Gprasp2*, Bhlhb9 | 1 model | Alliance of Genome Resources | |||
intellectual disability | HIVEP2 | Hivep2* | 1 model | Alliance of Genome Resources | |||
intellectual disability | TRAPPC9 | Trappc9* | 2 models | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability | DLG3 | Dlg3* | 1 model | Alliance of Genome Resources | |||
non-syndromic X-linked intellectual disability | IQSEC2 | Iqsec2* | 2 models | Alliance of Genome Resources | |||
syndromic intellectual disability | OPHN1 | Ophn1* | 1 model | Alliance of Genome Resources | |||
syndromic intellectual disability | BRPF1 | Brpf1* | 2 models | Alliance of Genome Resources | |||
syndromic intellectual disability | ANAPC7 | Anapc7* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability | ARX | Arx* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability | RAB39B | Rab39b* | 1 model | Alliance of Genome Resources | |||
Arboleda-Tham syndrome | KAT6A* | Kat6a | Alliance of Genome Resources | ||||
Armfield syndrome | FAM50A* | Fam50a | Alliance of Genome Resources | ||||
Arts syndrome | PITX2* | Pitx2 | Alliance of Genome Resources | ||||
Arts syndrome | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | SRRM2* | Srrm2 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | ZNF292* | Zfp292 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | TRIO* | Trio | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | TLK2* | Tlk2 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | TAF4* | Taf4 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | SETD2* | Setd2 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | SET*, SETSIP | Set | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | RFX7* | Rfx7 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | MED13* | Med13 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | LMAN2L* | Lman2l | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | KMT2B* | Kmt2b | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | KDM4B* | Kdm4b | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | HNRNPC* | Hnrnpc | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | GRIA1* | Gria1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | DLG4* | Dlg4 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | DIP2B* | Dip2b | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | CAMK2G* | Camk2g | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | ATP2B1* | Atp2b1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder | AP2M1* | Ap2m1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 1 | MBD5* | Mbd5 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 10 | CACNG2* | Cacng2 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 11 | EPB41L1* | Epb41l1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 13 | DYNC1H1* | Dync1h1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 19 | CTNNB1* | Ctnnb1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 21 | CTCF* | Ctcf | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 22 | ZBTB18* | Zbtb18 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 23 | SETD5* | Setd5 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 29 | SETBP1* | Setbp1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 3 | CDH15* | Cdh15 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 30 | ZMYND11* | Zmynd11 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 31 | PURA* | Pura | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 33 | DPP6* | Dpp6 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 34 | CERT1* | Cert1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 35 | PPP2R5D* | Ppp2r5d | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 36 | PPP2R1A* | Ppp2r1a | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 40 | CHAMP1* | Champ1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 41 | TBL1XR1* | Tbl1xr1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 42 | GNB1* | Gnb1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 43 | HIVEP2* | Hivep2 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 44 | TRIO* | Trio | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 45 | CIC* | Cic | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 46 | KCNQ5* | Kcnq5 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 47 | STAG1* | Stag1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 48 | RAC1* | Rac1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 5 | SYNGAP1* | Syngap1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 50 | NAA15* | Naa15 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 51 | KMT5B* | Kmt5b | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 52 | ASH1L* | Ash1l | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 53 | CAMK2A* | Camk2a | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 54 | CAMK2B* | Camk2b | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 55 | NUS1* | Nus1 | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 56 | CLTC* | Cltc | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 6 | GRIN2B* | Grin2b | Alliance of Genome Resources | ||||
autosomal dominant intellectual developmental disorder 8 | GRIN1* | Grin1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder | CASP2* | Casp2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder | WDR11* | Wdr11 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder | TPR* | Tpr | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder | ASCC3* | Ascc3 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 1 | PRSS12* | Prss12 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 12 | ST3GAL3* | St3gal3 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 13 | TRAPPC9* | Trappc9 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 14 | TECR* | Tecr | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 18 | MED23* | Med23 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 2 | CRBN* | Crbn | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 27 | LINS1* | Lins1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 3 | CC2D1A* | Cc2d1a | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 34 | CRADD* | Cradd | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 37 | ANK3* | Ank3 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 38 | HERC2* | Herc2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 39 | TTI2* | Tti2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 40 | TAF2* | Taf2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 43 | WASHC4* | Washc4 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 44 | METTL23* | Mettl23 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 45 | FBXO31* | Fbxo31 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 46 | NDST1* | Ndst1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 47 | FMN2* | Fmn2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 48 | SLC6A17* | Slc6a17 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 5 | NSUN2* | Nsun2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 50 | EDC3* | Edc3 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 51 | HNMT* | Hnmt | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 52 | LMAN2L* | Lman2l | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 54 | TNIK* | Tnik | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 56 | ZC3H14* | Zc3h14 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 57 | MBOAT7* | Mboat7 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 58 | ELP2* | Elp2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 59 | IMPA1* | Impa1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 6 | GRIK2* | Grik2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 60 | TAF13* | Taf13 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 61 | RUSC2* | Rusc2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 63 | CAMK2A* | Camk2a | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 64 | LINGO1* | Lingo1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 65 | KDM5B* | Kdm5b | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 66 | FERRY3* | D6Wsu163e | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 67 | EIF3F* | Eif3f | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 68 | TRMT1* | Trmt1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 69 | ZBTB11* | Zbtb11 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 7 | TUSC3* | Tusc3 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 70 | RSRC1* | Rsrc1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 71 | ALKBH8* | Alkbh8 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 72 | METTL5* | Mettl5 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 73 | NAA20* | Naa20 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 74 | APC2* | Apc2 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 75 | PIDD1* | Pidd1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 76 | GRIA1* | Gria1 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 77 | CEP104* | Cep104 | Alliance of Genome Resources | ||||
autosomal recessive intellectual developmental disorder 82 | NSUN6* | Nsun6 | Alliance of Genome Resources | ||||
Basilicata-Akhtar syndrome | MSL3* | Msl3 | Alliance of Genome Resources | ||||
Clark-Baraitser syndrome | TRIP12* | Trip12 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome | ARID1B* | Arid1b | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 10 | SOX4* | Sox4 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 11 | SMARCD1* | Smarcd1 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 12 | BICRA* | Bicra | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 2 | ARID1A* | Arid1a | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 3 | SMARCB1* | Smarcb1 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 4 | SMARCA4* | Smarca4 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 5 | SMARCE1* | Smarce1 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 6 | ARID2* | Arid2 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 7 | DPF2* | Dpf2 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 8 | SMARCC2* | Smarcc2 | Alliance of Genome Resources | ||||
Coffin-Siris syndrome 9 | SOX11* | Sox11 | Alliance of Genome Resources | ||||
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | IGBP1*, IGBP1C | Igbp1 | Alliance of Genome Resources | ||||
developmental delay and seizures with or without movement abnormalities | DHDDS* | Dhdds | Alliance of Genome Resources | ||||
developmental delay, dysmorphic facies, and brain anomalies | U2AF2* | U2af2 | Alliance of Genome Resources | ||||
developmental delay, hypotonia, and impaired language | FBXW7* | Fbxw7 | Alliance of Genome Resources | ||||
early onset progressive encephalopathy with brain atrophy and thin corpus callosum | TBCD* | Tbcd | Alliance of Genome Resources | ||||
female-restricted syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
glycosylphosphatidylinositol biosynthesis defect 16 | PIGC* | Pigc | Alliance of Genome Resources | ||||
Helsmoortel-Van Der Aa Syndrome | ADNP* | Adnp | Alliance of Genome Resources | ||||
hyperphosphatasia with impaired intellectual development syndrome 1 | PIGV* | Pigv | Alliance of Genome Resources | ||||
hyperphosphatasia with impaired intellectual development syndrome 2 | PIGO* | Pigo | Alliance of Genome Resources | ||||
hyperphosphatasia with impaired intellectual development syndrome 3 | PGAP2* | Pgap2 | Alliance of Genome Resources | ||||
hyperphosphatasia with impaired intellectual development syndrome 4 | PGAP3* | Pgap3 | Alliance of Genome Resources | ||||
hyperphosphatasia with impaired intellectual development syndrome 5 | PIGW* | Pigw | Alliance of Genome Resources | ||||
hyperphosphatasia with impaired intellectual development syndrome 6 | PIGY* | Pigyl | Alliance of Genome Resources | ||||
infantile hypotonia with psychomotor retardation and characteristic facies-3 | TBCK* | Tbck | Alliance of Genome Resources | ||||
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | PUS7* | Pus7 | Alliance of Genome Resources | ||||
intellectual developmental disorder with autistic features and language delay, with or without seizures | TANC2* | Tanc2 | Alliance of Genome Resources | ||||
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | TNPO2* | Tnpo2 | Alliance of Genome Resources | ||||
intellectual developmental disorder with ocular anomalies and distinctive facial features | MTSS2* | Mtss2 | Alliance of Genome Resources | ||||
intellectual disability | RPS6KA3* | Rps6ka3 | Alliance of Genome Resources | ||||
intellectual disability | ACSL4* | Acsl4 | Alliance of Genome Resources | ||||
intellectual disability | AGTR2* | Agtr2 | Alliance of Genome Resources | ||||
intellectual disability | ARHGEF6* | Arhgef6 | Alliance of Genome Resources | ||||
intellectual disability | ARID1B* | Arid1b | Alliance of Genome Resources | ||||
intellectual disability | CASR* | Casr | Alliance of Genome Resources | ||||
intellectual disability | CC2D1A* | Cc2d1a | Alliance of Genome Resources | ||||
intellectual disability | CC2D2A* | Cc2d2a | Alliance of Genome Resources | ||||
intellectual disability | CDK13* | Cdk13 | Alliance of Genome Resources | ||||
intellectual disability | CDKL5* | Cdkl5 | Alliance of Genome Resources | ||||
intellectual disability | CHKB* | Chkb | Alliance of Genome Resources | ||||
intellectual disability | CNTNAP2* | Cntnap2 | Alliance of Genome Resources | ||||
intellectual disability | DMD* | Dmd | Alliance of Genome Resources | ||||
intellectual disability | DRD4* | Drd4 | Alliance of Genome Resources | ||||
intellectual disability | DYRK1A* | Dyrk1a | Alliance of Genome Resources | ||||
intellectual disability | EIF4A3* | Eif4a3, Eif4a3l1, Eif4a3l2 | Alliance of Genome Resources | ||||
intellectual disability | GPI* | Gpi1 | Alliance of Genome Resources | ||||
intellectual disability | HPN* | Hpn | Alliance of Genome Resources | ||||
intellectual disability | IL1RAPL1* | Il1rapl1 | Alliance of Genome Resources | ||||
intellectual disability | IMPA1* | Impa1 | Alliance of Genome Resources | ||||
intellectual disability | KRAS* | Kras | Alliance of Genome Resources | ||||
intellectual disability | NONO* | Nono | Alliance of Genome Resources | ||||
intellectual disability | PAH* | Pah | Alliance of Genome Resources | ||||
intellectual disability | PRSS12* | Prss12 | Alliance of Genome Resources | ||||
intellectual disability | RPGRIP1L* | Rpgrip1l | Alliance of Genome Resources | ||||
intellectual disability | SARS1* | Sars1 | Alliance of Genome Resources | ||||
intellectual disability | SLC6A8* | Slc6a8 | Alliance of Genome Resources | ||||
intellectual disability | SLC16A2* | Slc16a2 | Alliance of Genome Resources | ||||
intellectual disability | SMC3* | Smc3 | Alliance of Genome Resources | ||||
intellectual disability | TSC1* | Tsc1 | Alliance of Genome Resources | ||||
intellectual disability | WDR62* | Wdr62 | Alliance of Genome Resources | ||||
intellectual disability-severe speech delay-mild dysmorphism syndrome | FOXP1* | Foxp1 | Alliance of Genome Resources | ||||
Luo-Schoch-Yamamoto syndrome | RNF2* | Rnf2 | Alliance of Genome Resources | ||||
MEHMO syndrome | EIF2S3*, EIF2S3B | Eif2s3x | Alliance of Genome Resources | ||||
Miles-Carpenter syndrome | ZC4H2* | Zc4h2 | Alliance of Genome Resources | ||||
Mullegama-Klein-Martinez syndrome | STAG2* | Stag2 | Alliance of Genome Resources | ||||
NESCAV syndrome | KIF1A* | Kif1a | Alliance of Genome Resources | ||||
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies | ADAT3* | Adat3 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | GEMIN5* | Gemin5 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | SRSF1* | Srsf1 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | SUPT16H* | Supt16 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with eye movement abnormalities and ataxia | FRMD5* | Frmd5 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | CACNA1C* | Cacna1c | Alliance of Genome Resources | ||||
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | MEF2C* | Mef2c | Alliance of Genome Resources | ||||
neurodevelopmental disorder with language delay and seizures | TIAM1* | Tiam1 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | GEMIN4* | Gemin4 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | TRAPPC6B* | Trappc6b | Alliance of Genome Resources | ||||
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | INTS11* | Ints11 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with poor growth and behavioral abnormalities | ATP9A* | Atp9a | Alliance of Genome Resources | ||||
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | PSMC1* | Psmc1 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with spasticity and poor growth | UFC1* | Ufc1 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with spastic paraplegia and microcephaly | GPT2* | Gpt2 | Alliance of Genome Resources | ||||
neurodevelopmental disorder with speech impairment and dysmorphic facies | SETD1A* | Setd1a | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability | ZMYM3* | Zmym3 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability | FGF13* | Fgf13 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability | FGD1* | Fgd1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability | CSTF2* | Cstf2 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 1 | IQSEC2* | Iqsec2 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 100 | KIF4A*, KIF4B | Kif4 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 101 | MID2* | Mid2 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 103 | KLHL15* | Klhl15 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 104 | FRMPD4* | Frmpd4 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 105 | USP27X* | Usp27x | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 106 | OGT* | Ogt | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 107 | STEEP1* | Steep1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 19 | RPS6KA3* | Rps6ka3 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 21 | IL1RAPL1* | Il1rapl1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 41 | GDI1* | Gdi1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 50 | SYN1* | Syn1 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 58 | TSPAN7* | Tspan7 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 63 | ACSL4* | Acsl4 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 90 | DLG3* | Dlg3 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 93 | BRWD3* | Brwd3 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 96 | SYP* | Syp | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 97 | ZNF711* | Zfp711 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability ARX-related | ARX* | Arx | Alliance of Genome Resources | ||||
Paganini-Miozzo syndrome | HS6ST2* | Hs6st2 | Alliance of Genome Resources | ||||
Partington syndrome | ARX* | Arx | Alliance of Genome Resources | ||||
Pitt-Hopkins-like syndrome 2 | NRXN1* | Nrxn1 | Alliance of Genome Resources | ||||
Prieto syndrome | WNK3* | Wnk3 | Alliance of Genome Resources | ||||
Rafiq syndrome | MAN1B1* | Man1b1 | Alliance of Genome Resources | ||||
Raynaud-Claes syndrome | CLCN4* | Clcn4 | Alliance of Genome Resources | ||||
Schuurs-Hoeijmakers Syndrome | PACS1* | Pacs1 | Alliance of Genome Resources | ||||
Sifrim-Hitz-Weiss syndrome | CHD4* | Chd4 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | DDX3X* | D1Pas1, Ddx3x | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | ZFX*, ZFY | Zfa-ps, Zfx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | TAF1*, TAF1L | Taf1 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | NKAP* | Nkap | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability 14 | UPF3B* | Upf3b | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability 34 | NONO* | Nono | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability 94 | GRIA3* | Gria3 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Cabezas type | CUL4B* | Cul4b | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Hedera type | ATP6AP2* | Atp6ap2 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Hedera type | ARX* | Arx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Lubs type | MECP2* | Mecp2 | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability Najm type | CASK* | Cask | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Nascimento type | UBE2A* | Ube2a | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Pilorge type | GLRA2* | Glra2 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Shashi type | RBMX* | Rbmx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Snyder type | SMS* | Sms, Sms-ps | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Turner type | HUWE1* | Huwe1 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability type 10 | HSD17B10* | Hsd17b10 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disorder Lujan-Fryns-type | MED12* | Med12 | Alliance of Genome Resources | ||||
syndromic X-linked mental retardation 35 | RPL10* | Rpl10, Rpl10-ps3 | Alliance of Genome Resources | ||||
syndromic X-linked mental retardation Hough type | CNKSR2* | Cnksr2 | Alliance of Genome Resources | ||||
Tatton-Brown-Rahman syndrome | DNMT3A* | Dnmt3a | Alliance of Genome Resources | ||||
Tonne-Kalscheuer syndrome | RLIM* | Rlim | Alliance of Genome Resources | ||||
Van Esch-O'Driscoll syndrome | POLA1* | Pola1 | Alliance of Genome Resources | ||||
Vulto-van Silfout-de Vries syndrome | DEAF1* | Deaf1 | Alliance of Genome Resources | ||||
White-Sutton syndrome | POGZ* | Pogz | Alliance of Genome Resources | ||||
Wilson-Turner syndrome | HDAC8* | Hdac8 | Alliance of Genome Resources | ||||
Wilson-Turner syndrome | LAS1L* | Las1l | Alliance of Genome Resources | ||||
X-linked intellectual developmental disorder 108 | SLC9A7* | Slc9a7 | Alliance of Genome Resources | ||||
X-linked intellectual developmental disorder 109 | AFF2* | Aff2 | Alliance of Genome Resources | ||||
X-linked intellectual disability-psychosis-macroorchidism syndrome | MECP2* | Mecp2 | Alliance of Genome Resources | ||||
X-linked mental retardation Gustavson type | RBMX* | Rbmx | Alliance of Genome Resources | ||||
X-linked mental retardation-hypotonic facies syndrome-1 | ATRX* | Atrx | Alliance of Genome Resources | ||||
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | OPHN1* | Ophn1 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
syndromic intellectual disability | Del(17Abcg1-Rrp1b)5Yey | 1 model | |
syndromic X-linked intellectual disability Lubs type | Tg(MECP2)1Hzo | 2 models | |
syndromic X-linked intellectual disability Lubs type | Tg(MECP2)3Hzo | 1 model |