Neurofibromatosis

Disease Term Disease ID Gene Symbol References
Neurofibromatoses C0162678 APC
NF1 28297620, 18772890, 21949590
Neurofibromatosis 1 C0027831 NF1 17160901, 19221814, 17426081, 11857752, 12808981, 19142971, 1302608, 21512413, 24932921, 8834249, 28068329, 17726231, 11726231, 21278392, 12872266, 9150739, 23913538, 12483293, 9385374, 11735023, 16835897, 9545275, 26840085, 7655472, 29449315, 16870183, 15146469, 18484666, 23875798, 12112660, 10607834, 25074460, 17103458, 21354044, 26635368, 23404336, 2114220, 10980545, 16773574, 9101300, 8807336, 16513807, 11258625, 25324867, 24789688, 16380919, 23656349, 22190595, 25966637, 8664912, 9475595, 10677298, 19292874, 23758643, 12807981, 27074763, 17960768, 8829638, 11459867, 10588837, 11409870, 19845691, 9003501, 22925204, 21501659, 10862084, 24294391, 29290338, 7904209, 17311297, 16735498, 26230854, 14722917, 8544190, 15863657, 8563750, 15060124, 25326637, 12707950, 26740943, 12746402, 8081387, 22222937, 23460398, 27322474, 8628317, 1568247, 12552569, 23668869, 10712197, 27617404, 18041031, 16479075, 21532985, 10534774, 16005615, 25403449, 23047742, 21520333, 15948193, 17668375, 16544997, 9109662, 27234610, 9463322, 9302992, 8437860, 21838856, 10678181, 7981679, 18546366, 19863548, 21567923, 26178382, 15331184, 26331193, 22962301, 25293717, 25788518, 15523642, 12522551, 9195229, 15520408, 10874316, 9668168, 10220149, 28706617, 7607663, 10754001, 19120036, 16944272, 9783703, 25325900, 12624144, 12687660, 27838393, 19665063, 8264648, 12787671, 25480383, 14569132, 8385067, 22807134, 23812910, 8837715, 7649559, 24413922, 26056819, 17914445, 16941471, 8069310, 24232412, 9180088, 27999334, 26969325, 10336779, 26478990, 21362601, 22965773, 25356970, 10090487, 25211147, 26758488, 24922668, 25541118, 17712740, 21089070, 9298829, 29673180, 26962827, 17514731, 23583981, 11704931, 24357598, 23244495, 22207399, 1071297, 14635100, 10543400, 25624686, 20602485, 24711935, 8957181, 26458495, 10451518, 28529006, 24951259, 25877329, 7903661, 16138229, 27482814, 28961165, 14513407, 16786508, 10076878, 10726756, 7633431, 22155606, 22617876
SPRED1 17704776
Neurofibromatosis 3 C0917817 NF1 21949590
NF2 23401320
SMARCB1 17357086, 23401320
LZTR1 24362817
COQ6 24763291
NEUROFIBROMATOSIS, FAMILIAL SPINAL C1834235 NF1 11704931, 23875798
Neurofibromatosis 2 C0027832 NF2 12136076, 22295085, 20178741, 26073919, 8882871, 16983642, 8751853, 8755919, 9171370, 9884492, 12118253, 8797533, 18766994, 12709270, 10669747, 7913580, 8566958, 9553042, 19880713, 20445339, 24726726, 7711726, 19451225, 29409008, 7666400, 7759081, 25113746, 18173316, 7795605, 8230593, 9643284, 18033041, 26066488, 12566519, 10090912, 8698340, 23788249, 18670066, 11085592, 8081368, 8012353, 16652148, 24815379, 10887156, 27704245, 10790209, 8379998
Neurofibromatosis, Type 3, mixed central and peripheral C2931480 NF2 23401320
SMARCB1 23401320, 17357086
LZTR1 24362817
COQ6 24763291
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME C1969623 SPRED1 21649642, 25074460, 25981987, 15683364, 19366998, 23875798, 21089071, 20108422, 17704776, 19443465, 21548021, 27313208, 19920235, 27423141, 27503857, 22751498, 20179001
Neurofibromatosis type 2 637 NF2
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 363700 NF1