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["Supplementary Table 14. X-linked diseases whose molecular basis was characterised with the assistance of the X chromosome sequence. "]
[]
["OMIM number","OMIM description","Gene","Reference"]
[300004,"CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA","ARX","Hum.Mut. 23: 147-159,2004."]
[300049,"HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (PVNH1)","FLNA","Neuron 21: 1315-1325, 1998"]
[300123,"MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY (MRGH)","SOX3","Am. J. Hum. Genet. 71: 1450-1455, 2002"]
[300166,"OCULOFACIOCARDIODENTAL SYNDROME (OFCD)","BCOR","Nature Genet. 36: 411-416, 2004."]
[300189,"MENTAL RETARDATION, X-LINKED NONSYNDROMIC, DLG3-RELATED","DLG3","Am. J. Hum. Genet. 75: 318 - 324, 2004"]
[300215,"LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA (XLAG)","ARX","Nature Genet. 32: 359-369, 2002."]
[300257,"GLYCOGEN STORAGE DISEASE IIb (GSD2B)","LAMP2","Nature 406: 906-910, 2000."]
[300306,"OBESITY, SUSCEPTIBILITY TO, X-LINKED (OBX)","SLC6A14","J. Clin. Invest. 112: 1762-1772, 2003."]
[300387,"MENTAL RETARDATION, X-LINKED 63 (MRX63)","ASCL4","Nature Genet. 30: 436-40, 2002."]
[300412,"MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2 (MAA2)","BCOR","Nature Genet. 36: 411-416, 2004."]
[300419,"MENTAL RETARDATION, X-LINKED 54 (MRX54)","ARX","Hum. Molec. Genet. 11: 981-991, 2002."]
[300425,"AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (AUTSX1)","NLGN3","Nature Genet. 34: 27-29, 2003."]
[300426,"MENTAL RETARDATION, X-LINKED 34 (MRX34)","IL1RAPL1","Nature Genet. 23: 25-31, 1999"]
[300430,"MENTAL RETARDATION, X-LINKED 36 (MRX36)","ARX","Hum. Molec. Genet. 11: 981-991, 2002."]
[300432,"EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY","ARX","Nature Genet. 30: 441-445, 2002"]
[300438,"HYDROXYL-CoA DEHYDROGENASE DEFICIENCY","HADH2","Am. J. Hum. Genet. 72: 1300-1307, 2003."]
[300472,"CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA","IGBP1","Am. J. Med. Genet. 123A: 37-44, 2003."]
[300486,"MENTAL RETARDATION, X-LINKED 60 (MRX60)","OPHN1","Nature 392: 923-926, 1998."]
[300491,"EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS","SYN1","J. Med. Genet. 41: 183-187, 2004"]
[300494,"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (ASPGX1)","NLGN3","Nature Genet. 34: 27-29, 2003."]
[300495,"AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (AUTSX2)","NLGN4X","Nature Genet. 34: 27-29, 2003."]
[300497,"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (ASPGX2)","NLGN4X","Nature Genet. 34: 27-29, 2003."]
[300498,"MENTAL RETARDATION, X-LINKED 45 (MRX45)","ZNF81","J. Med. Genet. 41: 394-399, 2004."]
[300501,"MENTAL RETARDATION, X-LINKED 44 (MRX44)","FTSJ1","Am. J. Hum. Genet. 75: 305-309, 2004."]
[301900,"BORJESON-FORSSMAN-LEHMANN SYNDROME (BFLS)","PHF6","Nature Genet. 32: 661-665, 2002."]
[302350,"CATARACT-DENTAL SYNDROME (NHS)","NHS","Am. J. Hum. Genet. 73: 1120-1130, 2003."]
[303400,"CLEFT PALATE, X-LINKED (CPX)","TBX22","Nature Genet. 29: 179-183, 2001"]
[304110,"CRANIOFRONTONASAL SYNDROME (CFNS)","EFNB1","Am. J. Hum. Genet. 74: 1209-1215, 2004."]
[304120,"OTOPALATODIGITAL SYNDROME, TYPE II (OPD2)","FLNA","Nature Genet. 33: 487-491, 2003"]
[304790,"IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (IPEX)","FOXP3","J. Clin. Invest. 106: R75-R81, 2000."]
[305000,"DYSKERATOSIS CONGENITA, X-LINKED (DKC)","DKC1","Nature Genet. 19: 32-8, 1998."]
[305620,"FRONTOMETAPHYSEAL DYSPLASIA (FMD)","FLNA","Nature Genet. 33: 487-491, 2003"]
[308240,"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (XLP)","SH2D1A","Nature Genet. 20: 129-135, 1998."]
[308300,"INCONTINENTIA PIGMENTI (IP)","IKBKG","Nature 405: 466-472, 2000."]
[308350,"INFANTILE SPASM SYNDROME, X-LINKED (ISSX)","ARX","Nature Genet. 30: 441-445, 2002. "]
[309350,"MELNICK-NEEDLES SYNDROME (MNS)","FLNA","Nature Genet. 33: 487-491, 2003"]
[309510,"PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (PRTS)","ARX","Nature Genet. 30: 441-445, 2002"]
[310500,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1 (CSNB1)","NYX","Nature Genet.  26: 319-323, 2000."]
[311200,"OROFACIODIGITAL SYNDROME I (OFD1)","OFD1","Am. J. Hum. Genet 68: 569-576, 2001."]
[311300,"OTOPALATODIGITAL SYNDROME, TYPE I (OPD1)","FLNA","Nature Genet. 33: 487-491, 2003"]
[312700,"RETINOSCHISIS 1, X-LINKED, JUVENILE (RS1)","RS1","Nature Genet. 17: 164-170, 1997. "]
[313400,"SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (SEDT)","TRAPPC2","Nature Genet. 22: 400 - 404, 1999."]
[314995,"MENTAL RETARDATION, X-LINKED NONSYNDROMIC, ZNF41-RELATED","ZNF41","Am. J. Hum. Genet. 73: 1341-1354, 2003. "]

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