Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      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
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 intellectual disability-short stature-overweight syndrome THOC2* Thoc2*, Thoc2l 1 model 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 MEST Mest* 1 model Alliance of Genome Resources
Barth syndrome FKBP1A, FKBP1C Fkbp1a* 1 model Alliance of Genome Resources
Dent disease CLCN5 Clcn5* 2 models 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 ARX Arx* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability RAB39B Rab39b* 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 PRPS1* Prps1   Alliance of Genome Resources
Arts syndrome PITX2* Pitx2   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 1 CLCN5* Clcn5   Alliance of Genome Resources
Dent disease 2 OCRL* Ocrl   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
Duchenne muscular dystrophy DAG1* Dag1   Alliance of Genome Resources
Duchenne muscular dystrophy ITGA7* Itga7 1 model 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 FCGR2A*, FCGR2B, FCGR2C Fcgr2b, Fcgr3   Alliance of Genome Resources
factor VIII deficiency TGFB1* Tgfb1   Alliance of Genome Resources
factor VIII deficiency TFPI* Tfpi   Alliance of Genome Resources
factor VIII deficiency PLAT* Plat   Alliance of Genome Resources
factor VIII deficiency MTHFR* Mthfr   Alliance of Genome Resources
factor VIII deficiency IL10* Il10   Alliance of Genome Resources
factor VIII deficiency IFNG* Ifng   Alliance of Genome Resources
factor VIII deficiency HMOX1* Hmox1   Alliance of Genome Resources
factor VIII deficiency HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
factor VIII deficiency F2* F2   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
Holoprosencephaly 13, X-linked STAG2* Stag2   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
Lisch epithelial corneal dystrophy MCOLN1* Mcoln1   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 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 FGD1* Fgd1   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 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 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-psychosis-macroorchidism syndrome MECP2* Mecp2   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 spermatogenic failure 4 GCNA*  
X-linked spermatogenic failure 5 SSX1*, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX6P, SSX7, SSX8P, SSX9P Ssxa1, Ssxb1, Ssxb2, Ssxb3, Ssxb5, Ssxb6, Ssxb8, Ssxb9, Ssxb10, Ssxb13, Ssxb14, Ssxb15, Ssxb16   Alliance of Genome Resources
X-linked spermatogenic failure 6 USP26* Usp26   Alliance of Genome Resources
X-linked spermatogenic failure 7 CT55* Ct55   Alliance of Genome Resources
X-linked spermatogenic failure 8 CYLC1* Cylc1   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.
     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(Pcp2-FMR1*)1Dln 1 model
  fragile X-associated tremor/ataxia syndrome Tg(tetO-FMR1*,-EGFP)#Rkhu 2 models
  Kennedy's disease Tg(AR*100Q)C25Als 1 model
  Kennedy's disease Tg(ACTA1-Ar)141Kyjo 1 model
  Kennedy's disease Tg(AR*100Q)#Als 1 model
  Kennedy's disease Tg(AR*100Q)C32Als 1 model
  Kennedy's disease Tg(CAG-AR*97Q)7-8Sobue 1 model
  Kennedy's disease Tg(Prnp-AR*112Q)#Deme 1 model
  Pelizaeus-Merzbacher disease Dp(XTceal3-Plp1)1Gmh 1 model
  Pelizaeus-Merzbacher disease Tg(Plp)66Kan 2 models
  Pelizaeus-Merzbacher disease Tg(Plp)72Kan 1 model
  retinitis pigmentosa 2 Tg(Rho-Arl3*Q71L)#Visu 1 model
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)3Hzo 1 model
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)1Hzo 2 models
  X-linked dominant hypophosphatemic rickets Tg(Col1a1-FGF2*,-Sapphire)203Mmh 1 model
  X-linked dominant hypophosphatemic rickets Tg(APOE-FGF23*R176Q)#Ack 1 model