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| author | dlalgroup |
|---|---|
| date | Thu, 24 Sep 2020 03:11:08 +0000 |
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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"