Mercurial > repos > mgramm > abstracts_by_pmids
view examples/data/1a/clingen_data @ 0:01f691e9ba03 draft default tip
"planemo upload for repository https://github.com/dlal-group/simtext commit e55e96337165eebd0e2b365bcd0ae48ebb358ebc-dirty"
| author | mgramm |
|---|---|
| date | Thu, 03 Sep 2020 14:49:19 +0000 |
| parents | |
| children |
line wrap: on
line source
"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"