abbreviation,title,variant_type,gene_name,gene_location,id,motif,repeat,repeat_location,repeat_location.hg19,prefix,suffix,gene_part,inheritance,omim_id,url,src,mutation_nature,cutoff_prerisk,cutoff_risk,normal,prerisk,risk,symptom,allele_freq
DM1,Myotonic dystrophy 1,short tandem repeats,DMPK,chr19:45769708-45782556:-,chr19_45770205_CAG,CTG,CAG,chr19:45770205-45770264,chr19:46273463-46273522,AATGGTCTGTGATCCCCC,CATTCCCGGCTACAAGGA,3' UTR,AD,160900,http://en.wikipedia.org/wiki/Myotonic_dystrophy,wikipedia,increase,35,50,5-34 repeats,35-49 repeats,50+ repeats,"Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable, inherited multisystemic disease. In DM1, the affected gene is called DMPK, which codes for myotonic dystrophy protein kinase, a protein expressed predominantly in skeletal muscle. In DM1, there is an expansion of the cytosine-thymine-guanine (CTG) triplet repeat in the DMPK gene. ","{3:1,4:2,5:8666,6:59,7:122,8:227,9:41,10:517,11:3263,12:3742,13:4178,14:1566,15:274,16:234,17:96,18:44,19:91,20:345,21:459,22:309,23:194,24:197,25:145,26:122,27:93,28:77,29:43,30:40,31:37,32:15,33:16,34:4,35:4,36:5,37:2,39:3,40:2,41:3,42:1,43:1,45:3,46:2,53:1,54:3,55:2,57:1,58:1,60:3,62:1,67:2,73:1}"
DM2,Myotonic dystrophy 2,short tandem repeats,ZNF9,chr3:129167814-129183966:-,chr3_129172577_CAGG,CCTG,CAGG,chr3:129172577-129172656,chr3:128891420-128891499,GGGACAAAGTGAGACAGA,CAGACAGACAGACAGACA,intron 1,AD,602668,http://en.wikipedia.org/wiki/Myotonic_dystrophy,wikipedia,increase,27,75,11-26 repeats,27-74 repeats,75+ repeats,"Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. ","{1:1,3:2,4:5,5:5,6:39,7:125,8:38,9:29,10:115,11:127,12:193,13:63,14:405,15:15176,16:4884,17:1462,18:633,19:946,20:330,21:128,22:112,23:43,24:40,25:52,26:176,27:38,28:13,29:6,30:6,31:14,32:7,33:3,34:1,40:1,41:4,42:2,43:5,44:2,45:2,46:3,47:1,48:1,49:3,50:3,51:1,52:1,53:3,54:2,55:1,57:1,62:1,64:1,68:1,71:1,72:1}"
DRPLA,Dentatorubro-pallidoluysian atrophy,short tandem repeats,ATN1,chr12:6924462-6942320:+,chr12_6936729_CAG,CAG,CAG,chr12:6936729-6936773,chr12:7045892-7045936,CACCACCAGCAACAGCAA,CATCACGGAAACTCTGGG,coding region,AD,125370,http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy,wikipedia,increase,36,48,6-35 repeats,36-47 repeats,48+ repeats,"Dentatorubro-pallidoluysian atrophy (DRPLA) can be juvenile-onset (< 20 years), early adult-onset (20-40 years), or late adult-onset (> 40 years). Early adult-onset DRPLA also includes seizures and myoclonus. Late adult-onset DRPLA is characterized by ataxia, choreoathetosis and dementia. DRPLA is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.","{5:13,6:18,7:64,8:2685,9:386,10:2265,11:375,12:1370,13:1595,14:1330,15:8475,16:3796,17:1467,18:488,19:295,20:313,21:130,22:58,23:76,24:27,25:17,26:6,27:1,28:2,29:2,30:1,34:2,39:1}"
FXTAS,Fragile X-associated tremor/ataxia syndrome,short tandem repeats,FMR1,chrX:147911950-147951126:+,chrX_147912051_CGG,CGG,CGG,chrX:147912051-147912110,chrX:146993569-146993628,AGGGGGCGTGCGGCAGCG,CTGGGCCTCGAGCGCCCG,5' UTR,XLD,300623,http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome,wikipedia,increase,55,55,5-44 repeats,-,55-200 repeats,"Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome. In fragile X syndrome (FXS), the fragile X mental retardation 1 gene, FMR1, is silenced; in FXTAS FMR1 is overexpressed and interferes with brain function. Both FXS and FXTAS are caused by a trinucleotide repeat expansion in FMR1. This CGG repeat expansion is smaller in FXTAS: the disease only occurs in individuals with a Fragile X permutation. It most often occurs in men, but can present in women. There is no cure for FXTAS, but several of the symptoms can be managed with medication.","{4:201,5:430,6:517,7:642,8:730,9:934,10:2266,11:525,12:844,13:1461,14:1585,15:1633,16:1483,17:1210,18:750,19:583,20:894,21:192,22:225,23:332,24:179,25:139,26:130,27:85,28:93,29:264,30:378,31:135,32:69,33:24,34:6,35:8,36:20,37:8,38:16,39:11,40:3,41:2,43:1,59:1,60:1}"
FXS,Fragile X syndrome,short tandem repeats,FMR1,chrX:147911950-147951126:+,chrX_147912051_CGG,CGG,CGG,chrX:147912051-147912110,chrX:146993569-146993628,AGGGGGCGTGCGGCAGCG,CTGGGCCTCGAGCGCCCG,5' UTR,XLD,300624,http://en.wikipedia.org/wiki/Fragile_X_syndrome,wikipedia,increase,200,200,5-44 repeats,-,200+ repeats,"Fragile X syndrome (FXS) results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testes (macroorchidism), and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety. Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome. Both FXS and FXTAS are caused by a trinucleotide repeat expansion in FMR1. This CGG repeat expansion is smaller in FXTAS: the disease only occurs in individuals with a Fragile X premutation.","{4:201,5:432,6:517,7:642,8:730,9:934,10:2266,11:525,12:844,13:1461,14:1587,15:1633,16:1483,17:1210,18:750,19:583,20:894,21:192,22:225,23:332,24:179,25:139,26:130,27:85,28:93,29:264,30:378,31:135,32:69,33:24,34:6,35:8,36:20,37:8,38:16,39:11,40:3,41:2,43:1,59:1,60:1}"
FRAXE,"Mental retardation, FRAXE type",short tandem repeats,FMR2,chrX:148500618-149000662:+,chrX_148500639_CCG,GCC,GCC,chrX:148500638-148500682,chrX:147582158-147582202,GCCGCCTGTGCAGCCGCT,GCTGCCGCCCCGGCTGCC,5' UTR,XLR,309548,http://en.wikipedia.org/wiki/Fragile_mental_retardation_2,wikipedia,increase,26,200,6-25 repeats,26-200 repeats,200+ repeats,Fragile XE mental retardation (FRAXE) is one of the most common forms of non-syndromic X-linked mental retardation. The most common mutation giving rise to this syndrome is a triplet expansion of CCG in the 5' untranslated region which leads to a silencing of the FMR2 gene.,"{3:5,4:723,5:887,6:1141,7:1402,8:1431,9:1535,10:1657,11:1705,12:1562,13:1115,14:759,15:1478,16:552,17:264,18:373,19:128,20:76,21:59,22:37,23:29,24:25,25:10,26:3,27:13,28:6,29:10,30:6,31:1,32:3,35:2,36:3,38:3,39:3,41:7,42:2,43:1,44:2}"
FRDA,Friedreich ataxia,short tandem repeats,FXN,chr9:69035562-69100177:+,chr9_69037287_GAA,GAA,GAA,chr9:69037287-69037304,chr9:71652203-71652220,ACAAAAAAAAAAAAAAAA,AATAAAGAAAAGTTAGCC,intron 1,AR,229300,http://en.wikipedia.org/wiki/Friedreich%27s_ataxia,wikipedia,increase,23,66,7-22 repeats,23-65 repeats,66+ repeats,"Friedreich's ataxia (FRDA) is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function. The particular genetic mutation (expansion of an intronic GAA triplet repeat in the FXN gene) leads to reduced expression of the mitochondrial protein frataxin. ","{2:1,3:1,5:246,6:333,7:152,8:7600,9:12407,10:219,11:29,12:163,13:147,14:151,15:117,16:247,17:460,18:649,19:543,20:421,21:306,22:200,23:199,24:122,25:129,26:98,27:50,28:52,29:26,30:21,31:19,32:8,33:7,34:3,35:4,36:4,38:2,40:2,41:1,43:3,44:1,45:1,46:1,52:1,53:1,54:4,55:1,56:4,57:7,58:6,59:7,60:8,61:7,62:9,63:8,64:5,65:9,66:1,67:5,68:5,69:3,70:3,71:5,72:4,73:1,74:1,75:1,77:3,78:1,79:1,80:1,83:1,84:1,86:1}"
HD,Huntington disease,short tandem repeats,HTT,chr4:3074509-3243959:+,chr4_3074877_CAG,CAG,CAG,chr4:3074877-3074933,chr4:3076604-3076660,GAGTCCCTCAAGTCCTTC,CAACAGCCGCCACCGCCG,coding region,AD,143100,http://en.wikipedia.org/wiki/Huntington%27s_disease,wikipedia,increase,36,40,<26 repeats,36-39 repeats,40+ repeats,Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms. HD is one of several trinucleotide repeat disorders which are caused by the length of a repeated section of a gene exceeding a normal range.,"{3:1,4:1,8:1,9:106,10:140,11:35,12:148,13:56,14:234,15:2837,16:1383,17:8329,18:3441,19:2280,20:1650,21:1064,22:753,23:770,24:570,25:370,26:283,27:196,28:176,29:124,30:75,31:52,32:58,33:43,34:30,35:20,36:16,37:5,38:4,39:4,40:3,41:1,44:1}"
HDL,Huntington disease-like 2,short tandem repeats,JPH3,chr16:87601834-87698155:+,chr16_87604288_CTG,CTG,CTG,chr16:87604288-87604329,chr16:87637894-87637935,CGGAAGCCAGGGAGCTGC,TAAGATGGTTTCTGTGCA,3' UTR,AD,606438,http://www.omim.org/entry/606438,omim,increase,29,40,6-28 repeats,29-39 repeats,40+ repeats,"Huntington disease-like 2 (HDL2) is clinically similar to Huntington disease but arose from a CAG expansion in a different gene. The disorder is characterized by onset in the fourth decade, involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, dementia, and relentless course with death about 20 years after disease onset. ","{5:10,6:1,7:19,8:82,9:18,10:39,11:606,12:113,13:645,14:12231,15:2128,16:6958,17:1739,18:315,19:185,20:15,21:2,22:11,23:17,24:6,25:24,26:38,27:43,28:14,29:2,33:1}"
ULD,"Epilepsy, progressive myoclonic 1A/Unverricht-Lundborg Disease",short tandem repeats,CSTB,chr21:43773664-43776374:-,chr21_43776444_CGCGGGGCGGGG,CCCCGCCCCGCG,CGCGGGGCGGGG,chr21:43776444-43776479,chr21:45196325-45196360,GCCCCGCAAGAAGGGACG,AACCTGGCCACCACTCGC,5' UTR/Promoter,AR,254800,http://www.omim.org/entry/254800,omim,increase,30,30,2-3 repeats,-,30+ repeats,"Myoclonic epilepsy of Unverricht and Lundborg (ULD) is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Although it is considered a progressive myoclonic epilepsy, it differs from other forms in that is appears to be progressive only in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. ","{1:6,2:9403,3:15740,4:61,5:30,6:11,10:1}"
OPMD,Oculopharyngeal muscular dystrophy,short tandem repeats,PABPN1,chr14:23320187-23326184:+,chr14_23321473_GCN,GCN,GCN,chr14:23321473-23321502,chr14:23790682-23790711,CCAGTCTGAGCGGCGATG,GGGGCTGCGGGCGGTCGG,coding region,AD,164300,http://www.ncbi.nlm.nih.gov/books/NBK1126/,omim,increase,11,12,2-10 repeats,11 repeats,12-17 repeats,Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder presenting in late life and characterized by dysphagia and progressive ptosis of the eyelids. ,"{6:1,7:1,8:4,9:98,10:25073,11:73,12:2,13:6}"
SBMA,Spinal and bulbar muscular atrophy of Kennedy,short tandem repeats,AR,chrX:67544031-67730618:+,chrX_67545318_CAG,CAG,CAG,chrX:67545318-67545383,chrX:66765160-66765225,GCCAGTTTGCTGCTGCTG,CAAGAGACTAGCCCCAGG,exon 1,XLR,313200,http://en.wikipedia.org/wiki/Spinal_and_bulbar_muscular_atrophy,wikipedia,increase,36,36,<34 repeats,-,36+ repeats,"Spinal and bulbar muscular atrophy (SBMA) is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord. SBMA is caused by expansion of a CAG repeat in the first exon of the androgen receptor gene (trinucleotide repeats). The greater the expansion of the CAG repeat, the earlier the disease onset and more severe the disease manifestations. ","{1:1,2:3,4:2,5:2,6:1,7:24,8:13,9:8,10:5,11:11,12:30,13:76,14:183,15:159,16:251,17:678,18:1456,19:1964,20:2114,21:3202,22:2191,23:2098,24:2013,25:1465,26:859,27:477,28:281,29:242,30:86,31:53,32:19,33:15,34:7,35:6,36:10,37:3,38:1,40:2,41:1}"
SCA1,Spinocerebellar ataxia 1,short tandem repeats,ATXN1,chr6:16299111-16761489:-,chr6_16327636_CTG,CAG,CTG,chr6:16327636-16327722,chr6:16327867-16327953,CGGAGCCCTGCTGAGGTG,CTCAGCCTTGTGTCCCGG,coding region,AD,164400,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,36,39,6-35 repeats,36-38 repeats,39+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease, caused by an expanded (CAG)n trinucleotide repeat in the ataxin-1 gene (ATXN1). SCA1 patient experiences hypermetric and slow saccades.","{2:2,3:2,4:1,5:2,6:2,7:3,8:5,9:1,10:3,11:2,12:5,13:1,14:2,15:2,16:8,17:2,18:4,19:53,20:51,21:25,22:40,23:63,24:35,25:64,26:842,27:589,28:1933,29:7441,30:8337,31:2190,32:1995,33:711,34:252,35:226,36:291,37:32,38:17,39:10,40:2,41:2,42:1,43:3,44:1,45:2,55:2,66:1,68:1,76:1}"
SCA2,Spinocerebellar ataxia 2,short tandem repeats,ATXN2,chr12:111452213-111599675:-,chr12_111598951_CTG,CAG,CTG,chr12:111598951-111599019,chr12:112036755-112036823,GGCAGCCGCGGGCGGCGG,GGGCTTCAGCGACATGGT,coding region,AD,183090,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,32,33,<31 repeats,32 repeats,33+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease, caused by an expanded (CAG)n trinucleotide repeat in the gene encoding ataxin-2 (ATXN2). SCA2 patient experiences diminished velocity saccades and areflexia (absense of neurologic reflexes).","{8:2,9:4,10:5,11:2,12:10,13:20,14:6,15:21,16:18,17:108,18:14,19:89,20:88,21:978,22:20300,23:2877,24:181,25:75,26:24,27:274,28:22,29:66,30:35,31:29,32:10,33:1,36:1,39:1,60:1}"
SCA3,Spinocerebellar ataxia 3,short tandem repeats,ATXN3,chr14:92058551-92106620:-,chr14_92071011_CTG,CAG,CTG,chr14:92071011-92071034,chr14:92537355-92537378,CTGTCCTGATAGGTCCCC,TTGCTGCTTTTGCTGCTG,coding region,AD,109150,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,45,60,12-44 repeats,45 repeats,~60+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease, caused by a (CAG)n trinucleotide repeat expansion encoding glutamine repeats in the ataxin-3 gene (ATXN3). SCA3 patient experiences Gaze-evoked nystagmus (a rapid, involuntary, oscillatory motion of the eyeball) and slow saccades.","{2:1,3:1,6:5,7:9,8:5377,9:41,10:28,11:15,12:171,13:270,14:1191,15:1990,16:1126,17:6820,18:1129,19:219,20:423,21:3156,22:1233,23:465,24:412,25:233,26:196,27:218,28:205,29:125,30:90,31:46,32:23,33:12,34:12,35:10,36:2,37:2,38:2,42:1,55:1}"
SCA6,Spinocerebellar ataxia 6,short tandem repeats,CACNA1A,chr19:13206441-13506459:-,chr19_13207859_CTG,CAG,CTG,chr19:13207859-13207897,chr19:13318673-13318711,GCCCGGCCTGGCCACCGC,CGGGGGCCCCGAGCCGCC,coding region,AD,183086,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,19,20,<18 repeats,19 repeats,20+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease. SCA6 patient experiences fownbeating nystagmus and positional vertigo.","{3:1,4:223,5:2,6:10,7:2068,8:124,9:18,10:194,11:9596,12:4467,13:7557,14:878,15:75,16:22,17:10,18:12,19:3,20:2}"
SCA7,Spinocerebellar ataxia 7,short tandem repeats,ATXN7,chr3:63864556-64003461:+,chr3_63912686_CAG,CAG,CAG,chr3:63912686-63912715,chr3:63898362-63898391,GCGGCCGCGGCCGCCCGG,CCGCCGCCTCCGCAGCCC,coding region,AD,164500,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,28,34,<19 repeats,28-33 repeats,34+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease, caused by an expanded trinucleotide repeat in the gene encoding ataxin-7 (ATXN7). SCA7 patient experiences macular degeneration, upper motor neuron and slow saccades.","{4:2,5:12,6:18,7:340,8:66,9:488,10:17886,11:1697,12:3183,13:1272,14:138,15:48,16:26,17:14,18:9,19:13,20:4,23:3,32:1}"
SCA8,Spinocerebellar ataxia 8,short tandem repeats,ATXN8OS/ATXN8,chr13:70107213-70139429:+,chr13_70139384_CTG,CTG/CAG,CTG,chr13:70139384-70139428,chr13:70713516-70713560,CTACTACTACTACTACTA,CATTTTTTAAAAATATAT,"untranslated RNA, coding region",AD,603680,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,80,80,15-50 repeats,-,80+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease, caused by a CTG/CAG trinucleotide repeat expansion. SCA8 patient experiences horizontal nystagmus (a rapid, involuntary, oscillatory motion of the eyeball), instability and lack of coordination.","{4:2,5:5,6:111,7:32,8:123,9:3757,10:226,11:755,12:5301,13:546,14:1226,15:5791,16:2824,17:1647,18:627,19:566,20:663,21:353,22:120,23:116,24:58,25:29,26:23,27:25,28:17,29:6,30:7,31:4,32:12,33:18,34:11,35:11,36:31,37:18,38:13,39:5,40:4,41:6,42:2,43:6,44:3,45:3,46:3,47:1,51:1,52:6,53:10,54:8,55:13,56:14,57:9,58:5,59:11,60:7,61:7,62:8,63:9,64:5,65:5,66:5,67:5,68:1,69:2,70:3,71:4,72:3,73:1,74:2,75:2,76:2,78:1,80:1,89:1,92:1,100:1}"
SCA10,Spinocerebellar ataxia 10,short tandem repeats,ATXN10,chr22:45671797-45845306:+,chr22_45795355_ATTCT,ATTCT,ATTCT,chr22:45795355-45795424,chr22:46191235-46191304,AAAAGACTACTAGAATGG,TTTTGAGATGAAGTCTCT,intron 9,AD,603516,http://www.omim.org/entry/603516,omim,increase,800,800,10-32 repeats,-,800+ repeats,"Spinocerebellar ataxia type 10 (SCA10) is a progressive, genetic neurodegenerative disease, caused by a ATTCT  repeat expansion. The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. ","{7:58,8:11,9:18,10:89,11:457,12:3296,13:6573,14:8078,15:3069,16:1826,17:875,18:488,19:183,20:132,21:47,22:21,23:8,24:2,25:5,31:1,34:2,35:1,36:3,37:5,38:2,39:2,40:1,41:2,42:1,44:3,45:1,46:1,47:1}"
SCA12,Spinocerebellar ataxia 12,short tandem repeats,PPP2R2B,chr5:146589503-147081519:-,chr5_146878729_CTG,CAG,CTG,chr5:146878729-146878758,chr5:146258292-146258321,ACACGCGCGCACTCGCAG,CAGGAGGCTGGAGGCGGC,5' UTR/Promoter,AD,604326,http://www.omim.org/entry/604326,omim,increase,51,51,8-23 repeats,-,51+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease, caused by a CTG/CAG trinucleotide repeat expansion. Spinocerebellar ataxia type 12 (SCA12) is a prototypic phenotype was that of a classic spinocerebellar ataxia, and the disease resembled the spinocerebellar ataxias more closely than any other form of neurodegenerative disorder. ","{2:1,4:2,5:2,6:9,7:8,8:76,9:1482,10:13389,11:232,12:40,13:3734,14:2041,15:2703,16:687,17:301,18:337,19:92,20:35,21:19,22:8,23:18,24:12,25:10,26:8,27:5,28:4,31:2,33:2,35:1}"
SCA17,Spinocerebellar ataxia 17,short tandem repeats,TBP,chr6:170554332-170572869:+,chr6_170561908_CAG,CAG,CAG,chr6:170561908-170562021,chr6:170870996-170871109,TTGGAAGAGCAACAAAGG,GCAGTGGCAGCTGCAGCC,coding region,AD,607136,http://en.wikipedia.org/wiki/Spinocerebellar_ataxia,wikipedia,increase,43,43,25-40 repeats,-,43+ repeats,"Spinocerebellar ataxia (SCA) is a progressive, genetic neurodegenerative disease. SCA17 patient experiences mental retardation. SCA17 can be caused by heterozygous expansion of a trinucleotide repeat encoding glutamine (CAG or CAA) in the TATA box-binding protein TBP.","{5:1,7:1,11:1,12:2,14:1,15:4,16:2,17:7,18:2,19:5,20:6,21:4,22:1,23:3,24:5,25:11,26:10,27:24,28:26,29:140,30:178,31:79,32:446,33:546,34:730,35:2429,36:4571,37:6039,38:7589,39:1762,40:400,41:128,42:48,43:15,44:26,45:7,46:4,52:1,53:2}"
SCA36,Spinocerebellar ataxia 36,short tandem repeats,NOP56,chr20:2652531-2658392:+,chr20_2652734_GGCCTG,GGCCTG,GGCCTG,chr20:2652734-2652757,chr20:2633380-2633403,CGTTCGGGCCGCAGACAG,CGCCTGCGCCTGCGCCTG,intron 1,AD,614153,http://www.omim.org/entry/614153,omim,increase,650,650,3-14 repeats,-,650+ repeats,"Spinocerebellar ataxia type 36 (SCA36) is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. ","{3:44,4:8914,5:1250,6:833,7:10748,8:809,9:2222,10:227,11:165,12:35,13:8,14:3}"
EIEE1,"Epileptic encephalopathy, early infantile, 1",short tandem repeats,ARX,chrX:25003693-25015947:-,chrX_25013662_CGC,GCG,CGC,chrX:25013662-25013691,chrX:25031779-25031808,GGCCGTGGCGGCCGCTGC,TGCCGCACCCTGAAGGAG,coding region,XLR,308350,http://www.omim.org/entry/308350,omim,increase,20,20,<12 repeats,-,20+ repeats,"Early infantile epileptic encephalopathy (EIEE1) is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. ","{3:1,4:55,5:72,6:119,7:146,8:158,9:584,10:18651,11:25,12:18,13:2,14:2,15:1}"
BPES,"Blepharophimosis, epicanthus inversus, and ptosis",short tandem repeats,FOXL2,chr3:138944223-138947139:-,chr3_138946021_NGC,GCN,NGC,chr3:138946021-138946062,chr3:138664863-138664904,GCCAGGGCTACCGGGGCC,CATCTGGCAGGAGGCATA,coding region,AD,110100,http://www.omim.org/entry/110100,omim,increase,19,19,14 repeats,-,19-24 repeats,"Blepharophimosis, epicanthus inversus, and ptosis (BPES) patients show dysplasia of the eyelids. In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids.","{4:77,5:1,8:1,9:6,12:1,13:31,14:25129,15:7,16:2,19:1}"
CCD,Cleidocranial dysplasia,short tandem repeats,RUNX2,chr6:45327799-45664031:+,chr6_45422751_GCN,GCN,GCN,chr6:45422751-45422801,chr6:45390488-45390538,CAGCAGCAGCAGCAGGAG,GTGCCCCGGTTGCGGCCG,coding region,AD,119600,http://www.omim.org/entry/119600,omim,increase,27,27,17 repeats,-,27 repeats,"Cleidocranial dysplasia (CCD) patients show persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.","{6:1,10:4,11:1337,12:5,14:16,16:73,17:23694,18:111,19:2,20:2,21:2,22:2,23:3,24:1,29:1,30:2,36:1,39:1}"
CCHS,Central hypoventilation syndrome,short tandem repeats,PHOX2B,chr4:41744081-41748969:-,chr4_41745972_NGC,GCN,NGC,chr4:41745972-41746031,chr4:41747989-41748048,AGCCGCAGCCAGGCCTCC,GCCGCCCTTGCCGGGTTC,coding region,AD,209880,http://www.omim.org/entry/209880,omim,increase,24,24,20 repeats,-,24 repeats,"Central hypoventilation syndrome (CCHS), also known as 'Ondine's curse', is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. ","{6:6,7:41,8:18,9:24,10:25,11:39,12:39,13:156,14:353,15:227,16:85,17:115,18:124,19:210,20:23733,21:9,22:15,23:2,24:1,25:5,26:1,27:4}"
HFG,Hand-foot-uterus syndrome,short tandem repeats,HOXA13,chr7:27193418-27200265:-,chr7_27199679_NGC,GCN,NGC,chr7:27199925-27199966,chr7:27239544-27239585,GCCCCCGCCCCCGGCCCC,CCCTTCCATGTTCTTGTT,exon 1,AD,140000,http://www.omim.org/entry/140000,omim,increase,22,22,14/12/12 repeats,-,22/18/18 repeats,"Hand-foot-uterus (HFG) patients show small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract, including longitudinal vaginal septum ","{4:3,5:248,6:17,7:7,8:10,9:17,10:12,11:30,12:35,13:102,14:24620,15:16,16:16,17:5,18:2,20:1,21:1,22:1,23:1}"
HPE5,Holoprosencephaly-5,short tandem repeats,ZIC2,chr13:99981771-99986764:+,chr13_99985449_GCN,GCN,GCN,chr13:99985449-99985493,chr13:100637703-100637747,AGCTCCAACCTGTCCCCA,GTGTCCGCGGTGCACCGG,coding region,AD,609637,http://www.omim.org/entry/609637,omim,increase,25,25,15 repeats,-,25 repeats,Holoprosencephaly (HPE5) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. ,"{3:1,5:16,6:11,7:3,8:7,9:8,10:55,11:18,12:24,13:14,14:435,15:24561,16:44,17:30,18:11,19:5,20:12,21:1}"
SD5,Syndactyly,short tandem repeats,HOXD13,chr2:176087504-176095937:+,chr2_176093059_GCN,GCN,GCN,chr2:176093059-176093103,chr2:176957787-176957831,GGGACGCATTCGGGGCGG,TCCGGCTTTGCGTACCCC,coding region,AD,186300,http://www.omim.org/entry/186300,omim,increase,22,22,15 repeats,-,22 repeats,Syndactyly (SD5) patients show the characteristic of the presence of an associated metacarpal and metatarsal fusion. ,"{6:8,7:5,8:4,9:1,11:8,12:75,13:2,14:67,15:25047,16:18,17:19,18:5,24:1}"
XLMR,"Mental retardation, X-linked, with isolated growth hormone deficiency",short tandem repeats,SOX3,chrX:140502986-140505059:-,chrX_140504317_NGC,GCN,NGC,chrX:140504317-140504361,chrX:139586482-139586526,CACGCCCACCGGACTGCT,ACCGGGAGGCAGGAGGCC,coding region,XLR,300123,http://www.omim.org/entry/300123,omim,increase,22,22,15 repeats,-,22 repeats,"Mental retardation, X-linked, with hormone deficiencies (XLMR) is caused by defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate.","{6:3,7:1,8:34,9:37,10:1,11:1,13:3,14:8,15:19874,16:34,17:15,23:1}"
AR,Susceptibility to prostate cancer due to Androgen Receptor expression,short tandem repeats,AR,chrX:67544032-67730619:+,chrX_67545318_CAG,CAG,CAG,chrX:67545318-67545383,chrX:66765160-66765225,GCCAGTTTGCTGCTGCTG,CAAGAGACTAGCCCCAGG,coding region,XLR,176807,http://www.omim.org/entry/176807,omim,decrease,18,8,22 repeats,<=18 repeats,<=8 repeats,"The length of a polymorphic CAG repeat sequence, occurring in the androgen receptor gene, is inversely correlated with transcriptional activity by the androgen receptor. Because heightened androgenic stimulation may increase risk of prostate cancer development and progression, we examined whether shorter CAG repeats in the androgen receptor gene are related to higher risk of prostate cancer. An association existed between fewer androgen receptor gene CAG repeats and higher risk of total prostate cancer [relative risk (RR) = 1.52; 95% confidence interval (CI) = 0.92-2.49; P trend = 0.04; for men with CAG repeat lengths <=18 relative to >=26 repeats]. In particular, a shorter CAG repeat sequence was associated with cancers characterized by extraprostatic extension or distant metastases (stage C or D) or high histologic grade (RR = 2.14; CI = 1.14-4.01; P trend = 0.001). This association was observed individually both for high stage (RR = 2.23) and high grade prostate cancer (RR = 1.89). Men with shorter repeats were at particularly high risk for distant metastatic and fatal prostate cancer. Variability in the CAG repeat length was not associated with low grade or low stage disease. These results demonstrate that a shorter CAG repeat sequence in the androgen receptor gene predicts higher grade and advanced stage of prostate cancer at diagnosis, and metastasis and mortality from the disease.","{1:1,2:3,4:2,5:2,6:1,7:24,8:13,9:8,10:5,11:11,12:30,13:76,14:183,15:159,16:252,17:677,18:1458,19:1964,20:2114,21:3202,22:2191,23:2098,24:2013,25:1465,26:859,27:477,28:281,29:242,30:86,31:53,32:19,33:15,34:7,35:6,36:10,37:3,38:1,40:2,41:1}"
ALS,"Amyotrophic lateral sclerosis, or familial frontotemporal dementia",short tandem repeats,C9orf72,chr9:27546546-27573866:-,chr9_27573529_GGCCCC,GGGGCC,GGCCCC,chr9:27573529-27573546,chr9:27573527-27573544,CCGCCCCGACCACGCCCC,TAGCGCGCGACTCCTGAG,intron 1,AD,105550,http://www.omim.org/entry/105550,omim,increase,31,31,<31 repeats,-,31+ repeats,The hexamer G4C2 repeat expansion in the C9orf72 locus is a major cause of both ALS and frontotemporal dementia. The pathogenic repeat length (>30 repeats) is present in ~10% of all ALS patients including ~40% of familial ALS cases and ~6-8% of sporadic ALS cases in some populations.,"{1:12,2:13703,3:307,4:1005,5:2987,6:1830,7:1194,8:2548,9:407,10:662,11:285,12:181,13:70,14:36,15:12,16:9,17:5,18:1,19:2}"