Dysautonomia

Disease Term Disease ID Gene Symbol Classification References Source
Dysautonomia, Familial C0013364 ELP1 Causal Pathogenic evidence from ClinVar 8102296, 9536098, 11179008, 11179021, 12116234, 12687659, 16964593, 17985250, 22190446, 23515154, 26392352, 27065010 ClinVar
Familial dysautonomia 1764 ELP1 Causal Pathogenic evidence from ClinVar - ClinVar
Dysautonomia C0013363 AAAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AKAP9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARID1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ASCL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BRAT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CALM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CALM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHRNA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31708116 -
CISD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CPT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DNAJC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ECE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FBXO7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FMR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GABBR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HTRA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNJ5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNQ1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LIFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LRRK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MTHFS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NOS1AP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
P4HTM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25078763 -
PARK7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PHIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PHOX2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Motor and Sensory-Neuropathy Type II C0270914 AARS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20045102, 22009580, 30124830 -
BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14981520, 15732094, 16427281, 17387721, 17486577, 18585921, 20598714, 21957196, 22045697, 23553728, 23564749, 24345054, 24604904, 25219579, 25454168, 25487175, 26282322, 26815532 -
FIG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17572665 -
GARS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16014653, 17035524, 17101916, 17595294, 21737751, 24604904, 25168514, 26138142, 26244500, 26503042, 27008886 -
HNRNPUL2-BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14981520, 15732094, 16427281, 17387721, 17486577, 18585921, 20598714, 21957196, 22045697, 23553728, 23564749, 24345054, 24604904, 25219579, 25454168, 25487175, 26282322, 26815532 -
HOXD10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15146389 -
KIF1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21820098, 25265257 -
LMNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1839274, 2280636, 10080180, 10580070, 10587585, 10612827, 10739764, 10814726, 10939567, 11503164, 11561226, 11792809, 11792810, 11897440, 11973618, 12015247, 12075506, 12467752, 12628721, 12629077, 12673789, 12714972, 12783988, 12927431, 14607793, 14615128, 14627682, 14675861, 14684700, 14749366, 15053843, 15219508, 15372542, 15678000, 15724423, 15982412, 16061563, 16174718, 16218190, 16386954, 16537768, 16630578, 17347251, 17377071, 17605093, 17711925, 17987279, 18031519, 18035086, 18396274, 18549403, 18551513, 18551515, 18564364, 18585512, 18604166, 18606848, 18646565, 18795223, 18926329, 19084400, 19172989, 19201734, 19328042, 19446900, 19524666, 19638735, 19842191, 19875404, 19875478, 19933576, 20130076, 20155465, 20160190, 20497714, 20627339, 20662858, 20848652, 20886652, 20980393, 21151901, 21173262, 21520333, 21632249, 21653823, 21840938, 21846512, 21875900, 22071332, 22090424, 22177269, 22186027, 22199124, 22224630, 22464770, 22491857, 22700598, 22883396, 22893709, 23062543, 23183350, 23313286, 233494 -
LRSAM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20865121 -
MFN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 184582, 10732809, 15064763, 15549395, 16043786, 16087932, 16437557, 16714318, 16762064, 16835246, 17215403, 17296794, 17309650, 17437620, 17444508, 17959936, 18316077, 18425620, 18946002, 18957892, 18996695, 19350291, 19812251, 19889647, 20008656, 20335458, 20350294, 20951041, 21258814, 21285398, 21326314, 21508331, 21531138, 21707411, 21715711, 21840889, 22206013, 22442078, 22492563, 22851605, 22926664, 24078732, 24126688, 24450158, 24473995, 24604904, 24627108, 24819634, 24862862, 24863639, 24957169, 25025039, 25403865, 25448007, 25614874, 25802885, 25957633, 26085578, 26114802, 26257172, 26307494, 26378787, 26382835, 26686600, 26801520, 26955893, 26989944, 27100445, 27549087, 27862672, 28063088, 28251916, 28414270 -
MORC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28581500 -
MPZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Autonomic bladder dysfunction C4025212 B2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COQ2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LMNB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -