Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
![]() ![]() | adrenoleukodystrophy | ABCD1* | Abcd1* | 9 models | Alliance of Genome Resources | ||
Allan-Herndon-Dudley syndrome | SLC16A2* | Slc16a2* | 1 model | Alliance of Genome Resources | |||
alpha thalassemia-X-linked intellectual disability syndrome | ATRX* | Atrx* | 3 models | Alliance of Genome Resources | |||
amelogenesis imperfecta type 1E | AMELX*, AMELY | Amelx* | 6 models | Alliance of Genome Resources | |||
Barth syndrome | TAFAZZIN* | Tafazzin* | 3 models | Alliance of Genome Resources | |||
blue cone monochromacy | OPN1LW*, OPN1MW*, OPN1MW2, OPN1MW3 | Opn1mw* | 1 model | Alliance of Genome Resources | |||
Borjeson-Forssman-Lehmann syndrome | PHF6* | Phf6* | 2 models | Alliance of Genome Resources | |||
Brunner Syndrome | MAOA* | Maoa* | 2 models | Alliance of Genome Resources | |||
Charcot-Marie-Tooth disease X-linked dominant 1 | GJB1* | Gjb1* | 4 models | Alliance of Genome Resources | |||
Christianson syndrome | SLC9A6* | Slc9a6* | 3 models | Alliance of Genome Resources | |||
Coffin-Lowry syndrome | RPS6KA3* | Rps6ka3* | 5 models | Alliance of Genome Resources | |||
congenital stationary night blindness 1A | NYX* | Nyx* | 1 model | Alliance of Genome Resources | |||
congenital stationary night blindness 2A | CACNA1F* | Cacna1f* | 12 models | Alliance of Genome Resources | |||
Cornelia de Lange syndrome 5 | HDAC8* | Hdac8* | 1 model | Alliance of Genome Resources | |||
craniofrontonasal syndrome | EFNB1* | Efnb1* | 1 model | Alliance of Genome Resources | |||
Danon disease | LAMP2* | Lamp2* | 3 models | Alliance of Genome Resources | |||
Dent disease | CLCN5* | Clcn5* | 2 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 2 | CDKL5* | Cdkl5* | 2 models | Alliance of Genome Resources | |||
Duchenne muscular dystrophy | DMD* | Dmd* | 30 models | Alliance of Genome Resources | |||
factor VIII deficiency | F8* | F8* | 2 models | Alliance of Genome Resources | |||
focal dermal hypoplasia | PORCN* | Porcn* | 14 models | Alliance of Genome Resources | |||
fragile X-associated tremor/ataxia syndrome | FMR1* | Fmr1* | 1 model | Alliance of Genome Resources | |||
fragile X syndrome | FMR1* | Fmr1* | 10 models | Alliance of Genome Resources | |||
glycogen storage disease IXd | PHKA1* | Phka1* | 2 models | Alliance of Genome Resources | |||
hemophilia B | F9* | F9* | 5 models | Alliance of Genome Resources | |||
hereditary spastic paraplegia 2 | PLP1* | Plp1* | 2 models | Alliance of Genome Resources | |||
IGSF1 deficiency syndrome | IGSF1* | Igsf1* | 1 model | Alliance of Genome Resources | |||
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | FOXP3* | Foxp3* | 2 models | Alliance of Genome Resources | |||
Lesch-Nyhan syndrome | HPRT1* | Hprt1* | 2 models | Alliance of Genome Resources | |||
MASA syndrome | L1CAM* | L1cam* | 1 model | Alliance of Genome Resources | |||
methylmalonic acidemia and homocysteinemia cblX type | HCFC1* | Hcfc1* | 1 model | Alliance of Genome Resources | |||
Nance-Horan syndrome | NHS* | Nhs* | 3 models | Alliance of Genome Resources | |||
neurodegeneration with brain iron accumulation 5 | WDR45* | Wdr45* | 2 models | 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 | |||
Norrie disease | NDP* | Ndp* | 2 models | Alliance of Genome Resources | |||
Opitz GBBB syndrome | MID1* | Mid1* | 1 model | Alliance of Genome Resources | |||
orofaciodigital syndrome I | OFD1* | Ofd1* | 2 models | Alliance of Genome Resources | |||
Pelizaeus-Merzbacher disease | PLP1* | Plp1* | 8 models | Alliance of Genome Resources | |||
Renpenning syndrome | PQBP1* | Pqbp1* | 1 model | Alliance of Genome Resources | |||
retinitis pigmentosa 2 | RP2* | Rp2* | 4 models | Alliance of Genome Resources | |||
Simpson-Golabi-Behmel syndrome type 1 | GPC3* | Gpc3* | 8 models | Alliance of Genome Resources | |||
syndromic microphthalmia 2 | BCOR*, BCORP1 | Bcor* | 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 | |||
Wiskott-Aldrich syndrome | WAS* | Was* | 2 models | Alliance of Genome Resources | |||
X-linked adrenal hypoplasia congenita | NR0B1* | Nr0b1* | 1 model | Alliance of Genome Resources | |||
X-linked agammaglobulinemia | BTK* | Btk* | 8 models | Alliance of Genome Resources | |||
X-linked Alport syndrome | COL4A5* | Col4a5* | 3 models | Alliance of Genome Resources | |||
X-linked cleft palate with or without ankyloglossia | TBX22* | Tbx22* | 2 models | Alliance of Genome Resources | |||
X-linked deafness 4 | SMPX* | Smpx* | 6 models | Alliance of Genome Resources | |||
X-linked distal spinal muscular atrophy 3 | ATP7A* | Atp7a* | 2 models | Alliance of Genome Resources | |||
X-linked dominant hypophosphatemic rickets | PHEX* | Phex* | 20 models | Alliance of Genome Resources | |||
X-linked juvenile retinoschisis 1 | RS1* | Rs1* | 8 models | Alliance of Genome Resources | |||
X-linked lymphoproliferative syndrome 1 | SH2D1A* | Sh2d1a* | 7 models | Alliance of Genome Resources | |||
X-linked nephrogenic diabetes insipidus | AVPR2* | Avpr2* | 1 model | Alliance of Genome Resources | |||
![]() | Barth syndrome | FKBP1A, FKBP1C | Fkbp1a* | 1 model | Alliance of Genome Resources | ||
Barth syndrome | MEST | Mest* | 1 model | Alliance of Genome Resources | |||
Duchenne muscular dystrophy | CTSS | Ctss* | 1 model | 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 | |||
Norrie disease | FZD4 | Fzd4* | 1 model | Alliance of Genome Resources | |||
retinitis pigmentosa 2 | ARL3 | Arl3* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability | RAB39B | Rab39b* | 1 model | Alliance of Genome Resources | |||
syndromic X-linked intellectual disability | ARX | Arx* | 1 model | Alliance of Genome Resources | |||
Wiskott-Aldrich syndrome | FOXP3 | Foxp3* | 1 model | Alliance of Genome Resources | |||
Wiskott-Aldrich syndrome | WASHC4 | Washc4* | 1 model | Alliance of Genome Resources | |||
X-linked agammaglobulinemia | PIK3R1 | Pik3r1* | 2 models | Alliance of Genome Resources | |||
X-linked chondrodysplasia punctata 1 | EBP | Ebp* | 1 model | Alliance of Genome Resources | |||
X-linked chondrodysplasia punctata 1 | NSDHL | Nsdhl* | 1 model | Alliance of Genome Resources | |||
X-linked dilated cardiomyopathy | Xlch* | 2 models | |||||
X-linked dominant hypophosphatemic rickets | Gy* | 1 model | |||||
![]() | 46,XX sex reversal 1 | SRY* | Sry | Alliance of Genome Resources | |||
46,XY sex reversal 2 | NR0B1* | Nr0b1 | Alliance of Genome Resources | ||||
Abruzzo-Erickson syndrome | TBX22* | Tbx22 | Alliance of Genome Resources | ||||
Aland Island eye disease | CACNA1F* | Cacna1f | 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 recessive congenital bilateral absence of vas deferens | CFTR* | Cftr | Alliance of Genome Resources | ||||
Basilicata-Akhtar syndrome | MSL3* | Msl3 | Alliance of Genome Resources | ||||
cataract 40 | NHS* | Nhs | Alliance of Genome Resources | ||||
CD40 ligand deficiency | CD40LG* | Cd40lg | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked dominant 6 | PDK3* | Pdk3 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked recessive 4 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
Charcot-Marie-Tooth disease X-linked recessive 5 | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
CHILD syndrome | NSDHL* | Nsdhl | Alliance of Genome Resources | ||||
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | HDAC6* | Hdac6 | Alliance of Genome Resources | ||||
CK syndrome | NSDHL* | Nsdhl | Alliance of Genome Resources | ||||
combined oxidative phosphorylation deficiency 6 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
congenital bilateral absence of vas deferens | CFTR* | Cftr | Alliance of Genome Resources | ||||
congenital disorder of glycosylation Icc | MAGT1* | Magt1 | Alliance of Genome Resources | ||||
congenital disorder of glycosylation Iy | SSR4* | Ssr4 | Alliance of Genome Resources | ||||
congenital disorder of glycosylation type IIm | SLC35A2* | Slc35a2 | Alliance of Genome Resources | ||||
congenital nongoitrous hypothyroidism 9 | IRS4* | Irs4 | Alliance of Genome Resources | ||||
Cornelia de Lange syndrome 2 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
corpus callosum agenesis-abnormal genitalia syndrome | ARX* | Arx | Alliance of Genome Resources | ||||
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | IGBP1*, IGBP1C | Igbp1 | Alliance of Genome Resources | ||||
deafness, dystonia, and cerebral hypomyelination | BCAP31* | Bcap31 | Alliance of Genome Resources | ||||
Dent disease | OCRL* | Ocrl | 2 models | Alliance of Genome Resources | |||
developmental and epileptic encephalopathy 1 | ARX* | Arx | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 36 | ALG13* | Alg13 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 8 | ARHGEF9* | Arhgef9 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 85 | SMC1A* | Smc1a | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 9 | PCDH19* | Pcdh19 | Alliance of Genome Resources | ||||
developmental and epileptic encephalopathy 90 | FGF13* | Fgf13 | Alliance of Genome Resources | ||||
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | TSR2* | Tsr2 | Alliance of Genome Resources | ||||
dilated cardiomyopathy 3B | DMD* | Dmd | Alliance of Genome Resources | ||||
Duchenne muscular dystrophy | ITGA7* | Itga7 | 1 model | Alliance of Genome Resources | |||
Duchenne muscular dystrophy | DAG1* | Dag1 | Alliance of Genome Resources | ||||
ectodermal dysplasia 1 | EDA* | Eda | Alliance of Genome Resources | ||||
ectodermal dysplasia and immunodeficiency 1 | IKBKG* | Ikbkg | Alliance of Genome Resources | ||||
factor VIII deficiency | HMOX1* | Hmox1 | Alliance of Genome Resources | ||||
factor VIII deficiency | TGFB1* | Tgfb1 | Alliance of Genome Resources | ||||
factor VIII deficiency | HLA-DQA1*, HLA-DQA2 | H2-Aa | Alliance of Genome Resources | ||||
factor VIII deficiency | FCGR2A*, FCGR2B, FCGR2C | Fcgr2b, Fcgr3 | Alliance of Genome Resources | ||||
factor VIII deficiency | F2* | F2 | Alliance of Genome Resources | ||||
factor VIII deficiency | IFNG* | Ifng | Alliance of Genome Resources | ||||
factor VIII deficiency | IL10* | Il10 | Alliance of Genome Resources | ||||
factor VIII deficiency | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
factor VIII deficiency | PLAT* | Plat | Alliance of Genome Resources | ||||
factor VIII deficiency | TFPI* | Tfpi | Alliance of Genome Resources | ||||
Fanconi anemia complementation group B | FANCB* | Fancb | Alliance of Genome Resources | ||||
female-restricted syndromic X-linked intellectual disability 99 | USP9X* | Usp9x | Alliance of Genome Resources | ||||
FG syndrome | CASK* | Cask | Alliance of Genome Resources | ||||
FG syndrome | MED12* | Med12 | Alliance of Genome Resources | ||||
frontometaphyseal dysplasia 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
Galloway-Mowat syndrome 2 | LAGE3* | Lage3 | Alliance of Genome Resources | ||||
glycogen storage disease IXa | PHKA2* | Phka2 | Alliance of Genome Resources | ||||
hemophilia B | F2* | F2 | Alliance of Genome Resources | ||||
HRPT-related hyperuricemia | HPRT1* | Hprt1 | Alliance of Genome Resources | ||||
hypogonadotropic hypogonadism 1 with or without anosmia | ANOS1* | ||||||
ichthyosis follicularis-alopecia-photophobia syndrome 1 | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | DOCK8* | Dock8 | Alliance of Genome Resources | ||||
immunodeficiency 33 | IKBKG* | Ikbkg | Alliance of Genome Resources | ||||
immunodeficiency 34 | CYBB* | Cybb | Alliance of Genome Resources | ||||
immunodeficiency 47 | ATP6AP1* | Atp6ap1 | Alliance of Genome Resources | ||||
immunodeficiency 50 | MSN* | Msn | Alliance of Genome Resources | ||||
isolated growth hormone deficiency type III | BTK* | Btk | Alliance of Genome Resources | ||||
Joubert syndrome 10 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
Keipert syndrome | GPC4* | Gpc4 | Alliance of Genome Resources | ||||
Kennedy's disease | AR* | Ar | 1 model | Alliance of Genome Resources | |||
Lesch-Nyhan syndrome | XDH* | Xdh | Alliance of Genome Resources | ||||
linear skin defects with multiple congenital anomalies 1 | HCCS* | Hccs | Alliance of Genome Resources | ||||
linear skin defects with multiple congenital anomalies 2 | COX7B* | Cox7b | Alliance of Genome Resources | ||||
linear skin defects with multiple congenital anomalies 3 | NDUFB11* | Ndufb11, Ndufb11b | Alliance of Genome Resources | ||||
low molecular weight proteinuria with hypercalciuric nephrocalcinosis | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
McLeod syndrome | XK* | Xk | Alliance of Genome Resources | ||||
Meester-Loeys syndrome | BGN* | Bgn | Alliance of Genome Resources | ||||
megalocornea | LTBP2* | Ltbp2 | Alliance of Genome Resources | ||||
MEHMO syndrome | EIF2S3*, EIF2S3B | Eif2s3x | Alliance of Genome Resources | ||||
Melnick-Needles syndrome | FLNA* | Flna | Alliance of Genome Resources | ||||
MEND syndrome | EBP* | Ebp | Alliance of Genome Resources | ||||
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | AMMECR1* | Ammecr1 | Alliance of Genome Resources | ||||
Miles-Carpenter syndrome | ZC4H2* | Zc4h2 | Alliance of Genome Resources | ||||
Mullegama-Klein-Martinez syndrome | STAG2* | Stag2 | Alliance of Genome Resources | ||||
multiple congenital anomalies-hypotonia-seizures syndrome 2 | PIGA* | Piga | Alliance of Genome Resources | ||||
nephrogenic syndrome of inappropriate antidiuresis | AVPR2* | Avpr2 | Alliance of Genome Resources | ||||
nonphotosensitive trichothiodystrophy 5 | RNF113A* | Rnf113a1, Rnf113a2 | Alliance of Genome Resources | ||||
non-syndromic X-linked intellectual disability | FGD1* | Fgd1 | 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 | 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 | ||||
nuclear type mitochondrial complex I deficiency 12 | NDUFA1* | Ndufa1 | Alliance of Genome Resources | ||||
nuclear type mitochondrial complex I deficiency 30 | NDUFB11* | Ndufb11, Ndufb11b | Alliance of Genome Resources | ||||
occipital horn syndrome | ATP7A* | Atp7a | Alliance of Genome Resources | ||||
oculocerebrorenal syndrome | OCRL* | Ocrl | 2 models | Alliance of Genome Resources | |||
Ogden syndrome | NAA10* | Naa10 | Alliance of Genome Resources | ||||
osteogenesis imperfecta type 19 | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
otopalatodigital syndrome type 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
otopalatodigital syndrome type 2 | FLNA* | Flna | Alliance of Genome Resources | ||||
ovarian dysgenesis 2 | BMP15* | Bmp15 | Alliance of Genome Resources | ||||
Paganini-Miozzo syndrome | HS6ST2* | Hs6st2 | Alliance of Genome Resources | ||||
partial androgen insensitivity syndrome | AR* | Ar | Alliance of Genome Resources | ||||
Partington syndrome | ARX* | Arx | Alliance of Genome Resources | ||||
phosphoglycerate kinase 1 deficiency | PGK1* | Pgk1 | Alliance of Genome Resources | ||||
phosphoribosylpyrophosphate synthetase superactivity | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
Prieto syndrome | WNK3* | Wnk3 | Alliance of Genome Resources | ||||
primary ovarian insufficiency 1 | FMR1* | Fmr1 | Alliance of Genome Resources | ||||
primary ovarian insufficiency 2A | DIAPH2* | Diaph2 | Alliance of Genome Resources | ||||
primary ovarian insufficiency 2B | POF1B* | Pof1b | Alliance of Genome Resources | ||||
Raynaud-Claes syndrome | CLCN4* | Clcn4 | Alliance of Genome Resources | ||||
reducing body myopathy 1A | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
reducing body myopathy 1B | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
retinitis pigmentosa 23 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
Ritscher-Schinzel syndrome 2 | CCDC22* | Ccdc22 | Alliance of Genome Resources | ||||
severe congenital encephalopathy due to MECP2 mutation | MECP2* | Mecp2 | Alliance of Genome Resources | ||||
Shukla-Vernon syndrome | BCORL1* | Bcorl1 | Alliance of Genome Resources | ||||
sideroblastic anemia 1 | ALAS2* | Alas2 | Alliance of Genome Resources | ||||
Simpson-Golabi-Behmel syndrome type 2 | OFD1* | Ofd1 | Alliance of Genome Resources | ||||
syndactyly type 8 | FGF16* | Fgf16 | Alliance of Genome Resources | ||||
syndromic microphthalmia 1 | NAA10* | Naa10 | Alliance of Genome Resources | ||||
syndromic microphthalmia 1 | BCOR*, BCORP1 | Bcor | Alliance of Genome Resources | ||||
syndromic microphthalmia 13 | HMGB3* | Hmgb3 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | NKAP* | Nkap | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | TAF1*, TAF1L | Taf1 | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability | DDX3X* | D1Pas1, Ddx3x | 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 | ARX* | Arx | Alliance of Genome Resources | ||||
syndromic X-linked intellectual disability Hedera type | ATP6AP2* | Atp6ap2 | 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 | ||||
TARP syndrome | RBM10* | Rbm10 | Alliance of Genome Resources | ||||
Tonne-Kalscheuer syndrome | RLIM* | Rlim | Alliance of Genome Resources | ||||
Van Esch-O'Driscoll syndrome | POLA1* | Pola1 | Alliance of Genome Resources | ||||
Waisman syndrome | RAB39B* | Rab39b | Alliance of Genome Resources | ||||
Wilson-Turner syndrome | HDAC8* | Hdac8 | Alliance of Genome Resources | ||||
Wilson-Turner syndrome | LAS1L* | Las1l | Alliance of Genome Resources | ||||
X-linked Aarskog syndrome | FGD1* | Fgd1 | Alliance of Genome Resources | ||||
X-linked atrophic macular degeneration | RPGR* | Rpgr | Alliance of Genome Resources | ||||
X-linked cardiac valvular dysplasia | FLNA* | Flna | Alliance of Genome Resources | ||||
X-linked chondrodysplasia punctata 1 | ARSL* | ||||||
X-linked chondrodysplasia punctata 2 | EBP* | Ebp | Alliance of Genome Resources | ||||
X-linked chronic granulomatous disease | CYBB* | Cybb | Alliance of Genome Resources | ||||
X-linked chronic idiopathic intestinal pseudo-obstruction | FLNA* | Flna | Alliance of Genome Resources | ||||
X-linked cone-rod dystrophy 3 | CACNA1F* | Cacna1f | Alliance of Genome Resources | ||||
X-linked congenital bilateral absence of vas deferens | ADGRG2* | Adgrg2 | Alliance of Genome Resources | ||||
X-linked congenital hemolytic anemia | ATP11C* | Atp11c | Alliance of Genome Resources | ||||
X-linked deafness 1 | PRPS1* | Prps1 | Alliance of Genome Resources | ||||
X-linked deafness 2 | POU3F4* | Pou3f4 | Alliance of Genome Resources | ||||
X-linked deafness 5 | AIFM1* | Aifm1 | Alliance of Genome Resources | ||||
X-linked deafness 6 | COL4A6* | Col4a6 | Alliance of Genome Resources | ||||
X-linked deafness 7 | GPRASP2*, ARMCX5-GPRASP2, GPRASP3 | Bhlhb9, Gprasp2 | Alliance of Genome Resources | ||||
X-linked dilated cardiomyopathy | DMD* | Dmd | Alliance of Genome Resources | ||||
X-linked dyserythropoietic anemia | GATA1* | Gata1 | Alliance of Genome Resources | ||||
X-linked dyskeratosis congenita | DKC1* | Dkc1 | Alliance of Genome Resources | ||||
X-linked dystonia-parkinsonism | TAF1*, TAF1L | Taf1 | Alliance of Genome Resources | ||||
X-linked Emery-Dreifuss muscular dystrophy 1 | EMD* | Emd | Alliance of Genome Resources | ||||
X-linked Emery-Dreifuss muscular dystrophy 6 | FHL1* | Fhl1 | Alliance of Genome Resources | ||||
X-linked epilepsy with variable learning disabilities and behavior disorders | SYN1* | Syn1 | Alliance of Genome Resources | ||||
X-linked exudative vitreoretinopathy 2 | NDP* | Ndp | Alliance of Genome Resources | ||||
X-linked ichthyosis | STS* | Sts | Alliance of Genome Resources | ||||
X-Linked immunodeficiency 74 | TLR7* | Tlr7 | Alliance of Genome Resources | ||||
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | MAGT1* | Magt1 | 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-cardiomegaly-congestive heart failure syndrome | CLIC2* | ||||||
X-linked intellectual disability-psychosis-macroorchidism syndrome | MECP2* | Mecp2 | Alliance of Genome Resources | ||||
X-linked intellectual disability-short stature-overweight syndrome | THOC2* | Thoc2, Thoc2l | Alliance of Genome Resources | ||||
X-linked keratosis follicularis spinulosa decalvans | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
X-linked lissencephaly 1 | DCX* | Dcx | Alliance of Genome Resources | ||||
X-linked lissencephaly 2 | ARX* | Arx | Alliance of Genome Resources | ||||
X-linked lymphoproliferative syndrome 2 | XIAP*, BIRC8 | Xiap | 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 | ||||
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
X-linked myopathy with excessive autophagy | VMA21* | Vma21 | Alliance of Genome Resources | ||||
X-linked nephrolithiasis type I | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
X-linked panhypopituitarism | SOX3* | Sox3 | Alliance of Genome Resources | ||||
X-linked parkinsonism-spasticity syndrome | ATP6AP2* | Atp6ap2 | Alliance of Genome Resources | ||||
X-linked properdin deficiency | CFP* | Cfp | Alliance of Genome Resources | ||||
X-linked recessive hypophosphatemic rickets | CLCN5* | Clcn5 | Alliance of Genome Resources | ||||
X-linked reticulate pigmentary disorder | POLA1* | Pola1 | Alliance of Genome Resources | ||||
X-linked retinitis pigmentosa and sinorespiratory infections | RPGR* | Rpgr | Alliance of Genome Resources | ||||
X-linked severe combined immunodeficiency | IL2RG* | Il2rg | 3 "NOT" models | Alliance of Genome Resources | |||
X-linked severe congenital neutropenia | WAS* | Was | Alliance of Genome Resources | ||||
X-linked sideroblastic anemia with ataxia | ABCB7* | Abcb7 | Alliance of Genome Resources | ||||
X-linked spermatogenic failure 2 | TEX11* | Tex11 | Alliance of Genome Resources | ||||
X-linked spermatogenic failure 3 | CFAP47* | Cfap47 | Alliance of Genome Resources | ||||
X-linked spinal muscular atrophy 2 | UBA1* | Uba1 | Alliance of Genome Resources | ||||
X-linked spinocerebellar ataxia 1 | ATP2B3* | Atp2b3 | Alliance of Genome Resources | ||||
X-linked spondyloepimetaphyseal dysplasia | BGN* | Bgn | Alliance of Genome Resources | ||||
X-linked spondyloepiphyseal dysplasia tarda | TRAPPC2*, TRAPPC2B | Trappc2, Trappc2b | Alliance of Genome Resources | ||||
X-linked thrombocytopenia with beta-thalassemia | GATA1* | Gata1 | Alliance of Genome Resources | ||||
X-linked thrombophilia due to factor IX defect | F9* | F9 | Alliance of Genome Resources | ||||
X-linked VACTERL association | ZIC3* | Zic3 | 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 | |
amelogenesis imperfecta type 1E | Tg(AMELX*P70T)2Gibs | 2 models | |
Duchenne muscular dystrophy | Tg(ACTA1-Ctss)1Jmol | 1 model | |
fragile X-associated tremor/ataxia syndrome | Tg(tetO-FMR1*,-EGFP)#Rkhu | 2 models | |
fragile X-associated tremor/ataxia syndrome | Tg(Pcp2-FMR1*)1Dln | 1 model | |
Kennedy's disease | Tg(ACTA1-Ar)141Kyjo | 1 model | |
Kennedy's disease | Tg(AR*100Q)C25Als | 1 model | |
Kennedy's disease | Tg(AR*100Q)#Als | 1 model | |
Kennedy's disease | Tg(Prnp-AR*112Q)#Deme | 1 model | |
Kennedy's disease | Tg(AR*100Q)C32Als | 1 model | |
Kennedy's disease | Tg(CAG-AR*97Q)7-8Sobue | 1 model | |
Pelizaeus-Merzbacher disease | Tg(Plp)72Kan | 1 model | |
Pelizaeus-Merzbacher disease | Tg(Plp)66Kan | 2 models | |
Pelizaeus-Merzbacher disease | Dp(XTceal3-Plp1)1Gmh | 1 model | |
retinitis pigmentosa 2 | Tg(Rho-Arl3*Q71L)#Visu | 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 | |
X-linked dominant hypophosphatemic rickets | Tg(APOE-FGF23*R176Q)#Ack | 1 model | |
X-linked dominant hypophosphatemic rickets | Tg(Col1a1-FGF2*,-Sapphire)203Mmh | 1 model |