Skip to content

sentence case for "type" diseases (SCA, DM1/DM2) #188

New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Merged
hdashnow merged 4 commits into from
Jun 5, 2025
Merged

sentence case for "type" diseases (SCA, DM1/DM2) #188

Show file tree
Hide file tree
Changes from 3 commits
Commits
Show all changes
4 commits
Select commit Hold shift + click to select a range
2ace44a
sentence case for "type" diseases (SCA, DM1/DM2)
laurelhiatt Jun 2, 2025
fddadd1
Update data
laurelhiatt Jun 2, 2025
d3705b4
Update STRchive-loci.json
hdashnow Jun 5, 2025
6f43b8f
Update data
hdashnow Jun 5, 2025
File filter

Filter by extension

Filter by extension
Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
22 changes: 11 additions & 11 deletions data/STRchive-disease-loci.T2T-chm13.bed
View file
Open in desktop
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
#chrom start stop id gene reference_motif_reference_orientation pathogenic_motif_reference_orientation pathogenic_min inheritance disease
chr1 870158 870178 HMNR7_VWA1 VWA1 GGCGCGGAGC GGCGCGGAGC 1 AR Neuronopathy, distal hereditary motor, autosomal recessive 7
chr1 57245935 57245973 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar Ataxia Type 37
chr1 57245935 57245973 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar ataxia type 37
chr1 94266544 94266567 OPDM_ABCD3 ABCD3 GCC GCC 118 AD Oculopharyngodistal myopathy
chr1 148519695 148519738 NIID_NOTCH2NLC NOTCH2NLC GGC GGC 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype
chr1 154328121 154330802 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG GGCTNNGGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG 8 AD Autosomal dominant tubulointerstitial kidney disease
Expand All @@ -9,8 +9,8 @@ chr2 96703674 96703732 FAME2_STARD7 STARD7 AAAAT AAATG 274 AD Familial adult myo
chr2 100563685 100563738 FRA2A_AFF3 AFF3 GCC GCC 300 AD Intellectual disability associated with fragile site FRA2A
chr2 176581179 176581224 SD5_HOXD13 HOXD13 GCN GCN 22 AD Syndactyly
chr2 191369982 191370024 GDPAG_GLS GLS GCA GCA 680 AR Glutaminase deficiency
chr3 63956302 63956333 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar Ataxia Type 7
chr3 131917482 131917557 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic Dystrophy Type 2
chr3 63956302 63956333 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia type 7
chr3 131917482 131917557 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2
chr3 141687011 141687054 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 186521667 186521706 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3073603 3073687 HD_HTT HTT CAG CAG 40 AD Huntington disease
Expand All @@ -19,7 +19,7 @@ chr4 41719745 41719805 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypov
chr4 162693303 162693405 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7
chr5 10295525 10295593 FAME3_MARCHF6 MARCHF6 TTTTA TTTCA 791 AD Familial adult myoclonic epilepsy type 3
chr5 147414733 147414780 SCA12_PPP2R2B PPP2R2B GCT GCT 51 AD Spinocerebellar ataxia type 12
chr6 16200188 16200282 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar Ataxia Type 1
chr6 16200188 16200282 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar ataxia type 1
chr6 45257567 45257618 CCD_RUNX2 RUNX2 GCN GCN 20 AD Cleidocranial dysplasia
chr6 171935458 171935569 SCA17_TBP TBP GCA GCA 49 AD Spinocerebellar ataxia type 17
chr7 27335684 27335720 HFG_HOXA13-III HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 3
Expand All @@ -35,34 +35,34 @@ chr10 80695718 80695748 OPML1_NUTM2B-AS1 NUTM2B-AS1 GGC GGC 161 AD Oculopharynge
chr11 119226662 119226696 JBS_CBL CBL CGG CGG 101 AD Jacobsen syndrome (FRAX11B fragile site)
chr12 6947903 6947941 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian Atrophy
chr12 50468095 50468118 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type
chr12 111575873 111575940 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar Ataxia Type 2
chr12 111575873 111575940 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2
chr12 123532573 123532603 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4
chr13 69361243 69361270 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar Ataxia Type 8
chr13 69361243 69361270 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8
chr13 99196358 99196404 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5
chr13 101377549 101377792 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B
chr14 17522488 17522519 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy
chr14 86300519 86300603 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
chr14 86300519 86300603 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar ataxia type 3/Machado-Joseph Disease
chr15 20458510 20458536 ALS1_NIPA1 NIPA1 GCG GCG 11 AD Amyotrophic lateral sclerosis
chr15 86324038 86324057 pre-MIR7-2_CHNG3 pre-MIR7-2 TTTG TTTG 3 AD Nongoitrous congenital hypothyroidism-3
chr15 87088411 87088452 CPEO_POLG POLG GCT GCT None Progressive external ophthalmoplegia, Parkinson's disease
chr16 17477909 17478002 DBQD2_XYLT1 XYLT1 GCC GCC 72 AR Baratela-Scott Syndrome/Desbuquois dysplasia 2
chr16 24890366 24890430 FAME6_TNRC6A TNRC6A TTTTA TTTCA 1100 AD Familial adult myoclonic epilepsy type 6
chr16 72284666 72284761 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar Ataxia Type 31
chr16 72284666 72284761 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar ataxia type 31
chr16 73638636 73638724 SCA_THAP11 THAP11 CAG CAG 45 AD Spinocerebellar ataxia
chr16 78605502 78605569 SCA4_ZFHX3 ZFHX3 GCC GCC 46 AD Spinocerebellar ataxia 4
chr16 93675723 93675776 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2
chr17 17754961 17755053 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8
chr17 81047404 81047534 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome
chr18 55789233 55789288 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3
chr19 13333136 13333176 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar Ataxia Type 6
chr19 13333136 13333176 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6
chr19 14622655 14622692 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy
chr19 18921630 18921645 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia
chr19 48597739 48597756 DM1_DMPK DMPK CAG CAG 50 AD Myotonic Dystrophy Type 1
chr19 48597739 48597756 DM1_DMPK DMPK CAG CAG 50 AD Myotonic dystrophy type 1
chr20 2683189 2683230 SCA36_NOP56 NOP56 GGCCTG GGCCTG 650 AD Spinocerebellar ataxia type 36
chr20 4738633 4738705 CJD_PRNP PRNP GGTGGTGGCTGGGGGCAGCCTCAT CCTCATGGTGGTGGCTGGGGGCAG 5 AD Creutzfeldt-Jakob disease
chr21 42132054 42132091 EPM1_CSTB CSTB CGCGGGGCGGGG CGCGGGGCGGGG 30 AR Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)
chr22 20143615 20143660 TOF_TBX1 TBX1 GCN GCN 25 AD Tetralogy of Fallot
chr22 46280059 46280134 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar Ataxia Type 10
chr22 46280059 46280134 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar ataxia type 10
chrX 24597766 24597802 PRTS_ARX ARX NGC NGC 20 XR Partington syndrome
chrX 24597886 24597934 EIEE1_ARX ARX NGC NGC 17 XR Early-infantile epileptic encephalopathy
chrX 30882677 30882743 DMD_DMD DMD TTC TTC 59 XR Duchenne muscular dystrophy
Expand Down
22 changes: 11 additions & 11 deletions data/STRchive-disease-loci.hg19.bed
View file
Open in desktop
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
#chrom start stop id gene reference_motif_reference_orientation pathogenic_motif_reference_orientation pathogenic_min inheritance disease
chr1 1371178 1371198 HMNR7_VWA1 VWA1 GGCGCGGAGC GGCGCGGAGC 1 AR Neuronopathy, distal hereditary motor, autosomal recessive 7
chr1 57832715 57832793 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar Ataxia Type 37
chr1 57832715 57832793 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar ataxia type 37
chr1 94883977 94884000 OPDM_ABCD3 ABCD3 GCC GCC 118 AD Oculopharyngodistal myopathy
chr1 145209323 145209354 NIID_NOTCH2NLC NOTCH2NLC GGC GGC 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype
chr1 155160981 155162030 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG GGCTNNGGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG 8 AD Autosomal dominant tubulointerstitial kidney disease
Expand All @@ -9,8 +9,8 @@ chr2 96862804 96862862 FAME2_STARD7 STARD7 AAAAT AAATG 274 AD Familial adult myo
chr2 100721260 100721286 FRA2A_AFF3 AFF3 GCC GCC 300 AD Intellectual disability associated with fragile site FRA2A
chr2 176957786 176957831 SD5_HOXD13 HOXD13 GCN GCN 22 AD Syndactyly
chr2 191745598 191745646 GDPAG_GLS GLS GCA GCA 680 AR Glutaminase deficiency
chr3 63898360 63898391 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar Ataxia Type 7
chr3 128891419 128891499 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic Dystrophy Type 2
chr3 63898360 63898391 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia type 7
chr3 128891419 128891499 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2
chr3 138664861 138664904 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183429975 183430014 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3076603 3076660 HD_HTT HTT CAG CAG 40 AD Huntington disease
Expand All @@ -19,7 +19,7 @@ chr4 41747989 41748049 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypov
chr4 160263678 160263770 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7
chr5 10356455 10356523 FAME3_MARCHF6 MARCHF6 TTTTA TTTCA 791 AD Familial adult myoclonic epilepsy type 3
chr5 146258290 146258322 SCA12_PPP2R2B PPP2R2B GCT GCT 51 AD Spinocerebellar ataxia type 12
chr6 16327864 16327955 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar Ataxia Type 1
chr6 16327864 16327955 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar ataxia type 1
chr6 45390487 45390538 CCD_RUNX2 RUNX2 GCN GCN 20 AD Cleidocranial dysplasia
chr6 170870994 170871105 SCA17_TBP TBP GCA GCA 49 AD Spinocerebellar ataxia type 17
chr7 27239297 27239351 HFG_HOXA13-III HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 3
Expand All @@ -35,34 +35,34 @@ chr10 81586139 81586160 OPML1_NUTM2B-AS1 NUTM2B-AS1 GGC GGC 161 AD Oculopharynge
chr11 119076999 119077033 JBS_CBL CBL CGG CGG 101 AD Jacobsen syndrome (FRAX11B fragile site)
chr12 7045879 7045938 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian Atrophy
chr12 50898784 50898807 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type
chr12 112036753 112036823 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar Ataxia Type 2
chr12 112036753 112036823 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2
chr12 124018267 124018297 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4
chr13 70713515 70713561 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar Ataxia Type 8
chr13 70713515 70713561 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8
chr13 100637702 100637748 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5
chr13 102813924 102814076 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B
chr14 23790681 23790712 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy
chr14 92537354 92537396 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
chr14 92537354 92537396 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar ataxia type 3/Machado-Joseph Disease
chr15 23086363 23086389 ALS1_NIPA1 NIPA1 GCG GCG 11 AD Amyotrophic lateral sclerosis
chr15 89112664 89112683 pre-MIR7-2_CHNG3 pre-MIR7-2 TTTG TTTG 3 AD Nongoitrous congenital hypothyroidism-3
chr15 89876819 89876860 CPEO_POLG POLG GCT GCT None Progressive external ophthalmoplegia, Parkinson's disease
chr16 17564764 17564779 DBQD2_XYLT1 XYLT1 GCC GCC 72 AR Baratela-Scott Syndrome/Desbuquois dysplasia 2
chr16 24624759 24624853 FAME6_TNRC6A TNRC6A TTTTA TTTCA 1100 AD Familial adult myoclonic epilepsy type 6
chr16 66524299 66524369 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar Ataxia Type 31
chr16 66524299 66524369 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar ataxia type 31
chr16 67876765 67876853 SCA_THAP11 THAP11 CAG CAG 45 AD Spinocerebellar ataxia
chr16 72821593 72821657 SCA4_ZFHX3 ZFHX3 GCC GCC 46 AD Spinocerebellar ataxia 4
chr16 87637888 87637935 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2
chr17 17711672 17711774 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8
chr17 78120808 78120938 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome
chr18 53253384 53253460 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3
chr19 13318672 13318712 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar Ataxia Type 6
chr19 13318672 13318712 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6
chr19 14606853 14606887 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy
chr19 18896844 18896860 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia
chr19 46273462 46273524 DM1_DMPK DMPK CAG CAG 50 AD Myotonic Dystrophy Type 1
chr19 46273462 46273524 DM1_DMPK DMPK CAG CAG 50 AD Myotonic dystrophy type 1
chr20 2633378 2633403 SCA36_NOP56 NOP56 GGCCTG GGCCTG 650 AD Spinocerebellar ataxia type 36
chr20 4680043 4680139 CJD_PRNP PRNP GGTGGTGGCTGGGGGCAGCCTCAT CCTCATGGTGGTGGCTGGGGGCAG 5 AD Creutzfeldt-Jakob disease
chr21 45196323 45196360 EPM1_CSTB CSTB CGCGGGGCGGGG CGCGGGGCGGGG 30 AR Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)
chr22 19754285 19754330 TOF_TBX1 TBX1 GCN GCN 25 AD Tetralogy of Fallot
chr22 46191234 46191304 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar Ataxia Type 10
chr22 46191234 46191304 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar ataxia type 10
chrX 25031646 25031682 PRTS_ARX ARX NGC NGC 20 XR Partington syndrome
chrX 25031766 25031814 EIEE1_ARX ARX NGC NGC 17 XR Early-infantile epileptic encephalopathy
chrX 31302674 31302722 DMD_DMD DMD TTC TTC 59 XR Duchenne muscular dystrophy
Expand Down
22 changes: 11 additions & 11 deletions data/STRchive-disease-loci.hg38.bed
View file
Open in desktop
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
#chrom start stop id gene reference_motif_reference_orientation pathogenic_motif_reference_orientation pathogenic_min inheritance disease
chr1 1435798 1435818 HMNR7_VWA1 VWA1 GGCGCGGAGC GGCGCGGAGC 1 AR Neuronopathy, distal hereditary motor, autosomal recessive 7
chr1 57367043 57367121 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar Ataxia Type 37
chr1 57367043 57367121 SCA37_DAB1 DAB1 AAAAT GAAAT 31 AD Spinocerebellar ataxia type 37
chr1 94418421 94418444 OPDM_ABCD3 ABCD3 GCC GCC 118 AD Oculopharyngodistal myopathy
chr1 149390802 149390842 NIID_NOTCH2NLC NOTCH2NLC GGC GGC 66 AD Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype
chr1 155188505 155192239 ADTKD_MUC1 MUC1 GGCTNNGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG GGCTNNGGGGNGCGGTGGAGCCCGGGGCNGGNCTGNTNTCCGGGGCCGAGGTGACANCNTG 8 AD Autosomal dominant tubulointerstitial kidney disease
Expand All @@ -9,8 +9,8 @@ chr2 96197066 96197124 FAME2_STARD7 STARD7 AAAAT AAATG 274 AD Familial adult myo
chr2 100104798 100104824 FRA2A_AFF3 AFF3 GCC GCC 300 AD Intellectual disability associated with fragile site FRA2A
chr2 176093058 176093103 SD5_HOXD13 HOXD13 GCN GCN 22 AD Syndactyly
chr2 190880872 190880920 GDPAG_GLS GLS GCA GCA 680 AR Glutaminase deficiency
chr3 63912684 63912715 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar Ataxia Type 7
chr3 129172576 129172656 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic Dystrophy Type 2
chr3 63912684 63912715 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia type 7
chr3 129172576 129172656 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2
chr3 138946019 138946062 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183712187 183712226 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3074876 3074933 HD_HTT HTT CAG CAG 40 AD Huntington disease
Expand All @@ -19,7 +19,7 @@ chr4 41745972 41746032 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypov
chr4 159342526 159342618 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7
chr5 10356343 10356411 FAME3_MARCHF6 MARCHF6 TTTTA TTTCA 791 AD Familial adult myoclonic epilepsy type 3
chr5 146878727 146878759 SCA12_PPP2R2B PPP2R2B GCT GCT 51 AD Spinocerebellar ataxia type 12
chr6 16327633 16327724 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar Ataxia Type 1
chr6 16327633 16327724 SCA1_ATXN1 ATXN1 CTG CTG 39 AD Spinocerebellar ataxia type 1
chr6 45422750 45422801 CCD_RUNX2 RUNX2 GCN GCN 20 AD Cleidocranial dysplasia
chr6 170561906 170562017 SCA17_TBP TBP GCA GCA 49 AD Spinocerebellar ataxia type 17
chr7 27199678 27199732 HFG_HOXA13-III HOXA13 NGC NGC 22 AD Hand-foot-genital syndrome 3
Expand All @@ -35,34 +35,34 @@ chr10 79826383 79826404 OPML1_NUTM2B-AS1 NUTM2B-AS1 GGC GGC 161 AD Oculopharynge
chr11 119206289 119206323 JBS_CBL CBL CGG CGG 101 AD Jacobsen syndrome (FRAX11B fragile site)
chr12 6936716 6936775 DRPLA_ATN1 ATN1 CAG CAG 48 AD Dentatorubral-Pallidoluysian Atrophy
chr12 50505001 50505024 FRA12A_DIP2B DIP2B GGC GGC 273 AD Intellectual developmental disorder, FRA12A type
chr12 111598949 111599019 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar Ataxia Type 2
chr12 111598949 111599019 SCA2_ATXN2 ATXN2 CTG CTG 35 AD,AR Spinocerebellar ataxia type 2
chr12 123533720 123533750 OPDM4_RILPL1 RILPL1 GGC GGC 120 AD Oculopharyngodistal myopathy type 4
chr13 70139383 70139429 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar Ataxia Type 8
chr13 70139383 70139429 SCA8_ATXN8OS ATXN8OS CTG CTG 71 AD Spinocerebellar ataxia type 8
chr13 99985448 99985494 HPE5_ZIC2 ZIC2 GCN GCN 25 AD Holoprosencephaly-5
chr13 102161574 102161726 SCA27B_FGF14 FGF14 GAA GAA 320 AD Spinocerebellar ataxia 27B
chr14 23321472 23321503 OPMD_PABPN1 PABPN1 GCN GCN 12 AD,AR Oculopharyngeal muscular dystrophy
chr14 92071010 92071052 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
chr14 92071010 92071052 SCA3_ATXN3 ATXN3 CTG CTG 60 AD Spinocerebellar ataxia type 3/Machado-Joseph Disease
chr15 22786677 22786703 ALS1_NIPA1 NIPA1 GCG GCG 11 AD Amyotrophic lateral sclerosis
chr15 88569433 88569452 pre-MIR7-2_CHNG3 pre-MIR7-2 TTTG TTTG 3 AD Nongoitrous congenital hypothyroidism-3
chr15 89333588 89333629 CPEO_POLG POLG GCT GCT None Progressive external ophthalmoplegia, Parkinson's disease
chr16 17470907 17470922 DBQD2_XYLT1 XYLT1 GCC GCC 72 AR Baratela-Scott Syndrome/Desbuquois dysplasia 2
chr16 24613438 24613532 FAME6_TNRC6A TNRC6A TTTTA TTTCA 1100 AD Familial adult myoclonic epilepsy type 6
chr16 66490396 66490466 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar Ataxia Type 31
chr16 66490396 66490466 SCA31_BEAN1 BEAN1 AATAA TGGAA,TAGAA 110 AD Spinocerebellar ataxia type 31
chr16 67842862 67842950 SCA_THAP11 THAP11 CAG CAG 45 AD Spinocerebellar ataxia
chr16 72787694 72787758 SCA4_ZFHX3 ZFHX3 GCC GCC 46 AD Spinocerebellar ataxia 4
chr16 87604282 87604329 HDL2_JPH3 JPH3 CTG CTG 40 AD Huntington disease-like 2
chr17 17808358 17808460 FAME8_RAI1 RAI1 TTTTA TTTCA 9 AD Familial adult myoclonic epilepsy type 8
chr17 80147009 80147139 RCPS_EIF4A3 EIF4A3 CCTCGCTGTGCCGCTGCCGA CCTCGCTGTGCCGCTGCCGA 14 AR Richieri-Costa-Pereira syndrome
chr18 55586153 55586229 FECD3_TCF4 TCF4 CAG CAG 51 AD Fuchs endothelial corneal dystrophy 3
chr19 13207858 13207898 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar Ataxia Type 6
chr19 13207858 13207898 SCA6_CACNA1A CACNA1A CTG CTG 21 AD Spinocerebellar ataxia type 6
chr19 14496041 14496075 OPDM2_GIPC1 GIPC1 CCG CCG 73 AD Oculopharyngodistal myopathy
chr19 18786034 18786050 EDM1-PSACH_COMP COMP GTC GTC 6 AD Multiple epiphyseal dysplasia, Pseudoachondroplasia
chr19 45770204 45770266 DM1_DMPK DMPK CAG CAG 50 AD Myotonic Dystrophy Type 1
chr19 45770204 45770266 DM1_DMPK DMPK CAG CAG 50 AD Myotonic dystrophy type 1
chr20 2652732 2652757 SCA36_NOP56 NOP56 GGCCTG GGCCTG 650 AD Spinocerebellar ataxia type 36
chr20 4699397 4699493 CJD_PRNP PRNP GGTGGTGGCTGGGGGCAGCCTCAT CCTCATGGTGGTGGCTGGGGGCAG 5 AD Creutzfeldt-Jakob disease
chr21 43776442 43776479 EPM1_CSTB CSTB CGCGGGGCGGGG CGCGGGGCGGGG 30 AR Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)
chr22 19766762 19766807 TOF_TBX1 TBX1 GCN GCN 25 AD Tetralogy of Fallot
chr22 45795354 45795424 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar Ataxia Type 10
chr22 45795354 45795424 SCA10_ATXN10 ATXN10 ATTCT ATTCT 800 AD Spinocerebellar ataxia type 10
chrX 25013529 25013565 PRTS_ARX ARX NGC NGC 20 XR Partington syndrome
chrX 25013649 25013697 EIEE1_ARX ARX NGC NGC 17 XR Early-infantile epileptic encephalopathy
chrX 31284557 31284605 DMD_DMD DMD TTC TTC 59 XR Duchenne muscular dystrophy
Expand Down
Loading
Loading