Mercurial > repos > dlalgroup > pmids_to_pubtator_matrix
view examples/data/1b/clingen_data @ 1:f55a02423699 draft
"planemo upload for repository https://github.com/dlal-group/simtext commit fd3f5b7b0506fbc460f2a281f694cb57f1c90a3c-dirty"
| author | dlalgroup |
|---|---|
| date | Thu, 24 Sep 2020 04:28:18 +0000 |
| parents | 3f4adc85ba5d |
| children |
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"ID_gene" "GROUPING_disorder" "1" "CHD2" "complex neurodevelopmental disorder" "2" "EEF1A2" "complex neurodevelopmental disorder" "3" "GRIN1" "complex neurodevelopmental disorder" "4" "GRIN2A" "complex neurodevelopmental disorder" "5" "KCNB1" "complex neurodevelopmental disorder" "6" "MEF2C" "complex neurodevelopmental disorder" "7" "NRXN1" "complex neurodevelopmental disorder" "8" "PURA" "complex neurodevelopmental disorder" "9" "SCN2A" "complex neurodevelopmental disorder" "10" "SCN8A" "complex neurodevelopmental disorder" "11" "SHANK2" "complex neurodevelopmental disorder" "12" "SYNGAP1" "complex neurodevelopmental disorder" "13" "CC2D1A" "complex neurodevelopmental disorder" "14" "HOXA1" "complex neurodevelopmental disorder" "15" "IQSEC2" "complex neurodevelopmental disorder" "16" "NLGN4X" "complex neurodevelopmental disorder" "17" "SMC1A" "complex neurodevelopmental disorder" "18" "UPF3B" "complex neurodevelopmental disorder" "19" "WDR45" "complex neurodevelopmental disorder" "20" "ACTA2" "familial thoracic aortic aneurysm and aortic dissection" "21" "COL3A1" "familial thoracic aortic aneurysm and aortic dissection" "22" "FBN1" "familial thoracic aortic aneurysm and aortic dissection" "23" "LOX" "familial thoracic aortic aneurysm and aortic dissection" "24" "MYH11" "familial thoracic aortic aneurysm and aortic dissection" "25" "MYLK" "familial thoracic aortic aneurysm and aortic dissection" "26" "PRKG1" "familial thoracic aortic aneurysm and aortic dissection" "27" "SMAD3" "familial thoracic aortic aneurysm and aortic dissection" "28" "TGFB2" "familial thoracic aortic aneurysm and aortic dissection" "29" "TGFBR1" "familial thoracic aortic aneurysm and aortic dissection" "30" "TGFBR2" "familial thoracic aortic aneurysm and aortic dissection" "31" "ACTG1" "nonsyndromic genetic deafness" "32" "COCH" "nonsyndromic genetic deafness" "33" "EYA4" "nonsyndromic genetic deafness" "34" "GRHL2" "nonsyndromic genetic deafness" "35" "KCNQ4" "nonsyndromic genetic deafness" "36" "MYH14" "nonsyndromic genetic deafness" "37" "MYO6" "nonsyndromic genetic deafness" "38" "MYO7A" "nonsyndromic genetic deafness" "39" "POU4F3" "nonsyndromic genetic deafness" "40" "SLC17A8" "nonsyndromic genetic deafness" "41" "TECTA" "nonsyndromic genetic deafness" "42" "TMC1" "nonsyndromic genetic deafness" "43" "CABP2" "nonsyndromic genetic deafness" "44" "CDH23" "nonsyndromic genetic deafness" "45" "CIB2" "nonsyndromic genetic deafness" "46" "CLDN14" "nonsyndromic genetic deafness" "47" "ESPN" "nonsyndromic genetic deafness" "48" "ESRRB" "nonsyndromic genetic deafness" "49" "GIPC3" "nonsyndromic genetic deafness" "50" "GRXCR1" "nonsyndromic genetic deafness" "51" "ILDR1" "nonsyndromic genetic deafness" "52" "LHFPL5" "nonsyndromic genetic deafness" "53" "LOXHD1" "nonsyndromic genetic deafness" "54" "MARVELD2" "nonsyndromic genetic deafness" "55" "MYO15A" "nonsyndromic genetic deafness" "56" "MYO3A" "nonsyndromic genetic deafness" "57" "OTOA" "nonsyndromic genetic deafness" "58" "OTOG" "nonsyndromic genetic deafness" "59" "OTOGL" "nonsyndromic genetic deafness" "60" "PJVK" "nonsyndromic genetic deafness" "61" "RDX" "nonsyndromic genetic deafness" "62" "S1PR2" "nonsyndromic genetic deafness" "63" "STRC" "nonsyndromic genetic deafness" "64" "TMIE" "nonsyndromic genetic deafness" "65" "TMPRSS3" "nonsyndromic genetic deafness" "66" "TPRN" "nonsyndromic genetic deafness" "67" "POU3F4" "nonsyndromic genetic deafness" "68" "SMPX" "nonsyndromic genetic deafness" "69" "KRAS" "Noonan syndrome" "70" "LZTR1" "Noonan syndrome" "71" "NRAS" "Noonan syndrome" "72" "PTPN11" "Noonan syndrome" "73" "RAF1" "Noonan syndrome" "74" "RIT1" "Noonan syndrome" "75" "RRAS2" "Noonan syndrome" "76" "SOS1" "Noonan syndrome" "77" "ETHE1" "Leigh syndrome" "78" "LRPPRC" "Leigh syndrome" "79" "NDUFS1" "Leigh syndrome" "80" "NDUFS4" "Leigh syndrome" "81" "NDUFV1" "Leigh syndrome" "82" "SCO2" "Leigh syndrome" "83" "SLC19A3" "Leigh syndrome" "84" "SUCLA2" "Leigh syndrome" "85" "SURF1" "Leigh syndrome" "86" "TTC19" "Leigh syndrome" "87" "PDHA1" "Leigh syndrome" "88" "ACTC1" "hypertrophic cardiomyopathy" "89" "MYH7" "hypertrophic cardiomyopathy" "90" "MYL3" "hypertrophic cardiomyopathy" "91" "PRKAG2" "hypertrophic cardiomyopathy" "92" "TNNI3" "hypertrophic cardiomyopathy" "93" "TNNT2" "hypertrophic cardiomyopathy" "94" "TPM1" "hypertrophic cardiomyopathy" "95" "ALPK3" "hypertrophic cardiomyopathy"