Neurofibromatosis

Disease Term Disease ID Gene Symbol Classification References Source
Neurofibromatoses C0162678 NF1 Causal Pathogenic evidence from ClinVar 18772890, 21949590, 28297620 ClinVar
APC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Neurofibromatosis 1 C0027831 NF1 Causal Pathogenic evidence from ClinVar 1071297, 1302608, 1568247, 2114220, 7607663, 7633431, 7649559, 7655472, 7903661, 7904209, 7981679, 8069310, 8081387, 8264648, 8385067, 8437860, 8544190, 8563750, 8628317, 8664912, 8807336, 8829638, 8834249, 8837715, 8957181, 9003501, 9101300, 9109662, 9150739, 9180088, 9195229, 9298829, 9302992, 9385374, 9463322, 9475595, 9545275, 9668168, 9783703, 10076878, 10090487, 10220149, 10336779, 10451518, 10534774, 10543400, 10588837, 10607834, 10677298, 10678181, 10712197, 10726756, 10754001, 10862084, 10874316, 10980545, 11258625, 11409870, 11459867, 11704931, 11726231, 11735023, 11857752, 12112660, 12483293, 12522551, 12552569, 12624144, 12687660, 12707950, 12746402, 12787671, 12807981, 12808981, 12872266, 14513407, 14569132, 14635100, 14722917, 15060124, 15146469, 15331184, 15520408, 15523642, 15863657, 15948193, 16005615, 16138229, 16380919, 16479075, 16513807, 16544997, 16735498, 16773574, 16786508, 16835897, 16870183, 16941471, 16944272, 17103458, 17160901, 17311297, 17426081, 17514731, 17668375, 17712740, 177 ClinVar
SPRED1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17704776 -
Neurofibromatosis 3 C0917817 NF1 Causal Pathogenic evidence from ClinVar 21949590 ClinVar
NF2 Causal Pathogenic evidence from ClinVar 23401320 ClinVar
COQ6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24763291 -
LZTR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24362817 -
SMARCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17357086, 23401320 -
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 363700 NF1 Causal Pathogenic evidence from ClinVar - ClinVar
NEUROFIBROMATOSIS, FAMILIAL SPINAL C1834235 NF1 Causal Pathogenic evidence from ClinVar 11704931, 23875798 ClinVar
Neurofibromatosis 2 C0027832 NF2 Causal Pathogenic evidence from ClinVar 7666400, 7711726, 7759081, 7795605, 7913580, 8012353, 8081368, 8230593, 8379998, 8566958, 8698340, 8751853, 8755919, 8797533, 8882871, 9171370, 9553042, 9643284, 9884492, 10090912, 10669747, 10790209, 10887156, 11085592, 12118253, 12136076, 12566519, 12709270, 16652148, 16983642, 18033041, 18173316, 18670066, 18766994, 19451225, 19880713, 20178741, 20445339, 22295085, 23788249, 24726726, 24815379, 25113746, 26066488, 26073919, 27704245, 29409008 ClinVar
Neurofibromatosis type 2 637 NF2 Causal Pathogenic evidence from ClinVar - ClinVar
Neurofibromatosis, Type 3, mixed central and peripheral C2931480 NF2 Causal Pathogenic evidence from ClinVar 23401320 ClinVar
COQ6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24763291 -
LZTR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24362817 -
SMARCB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17357086, 23401320 -
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME C1969623 SPRED1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15683364, 17704776, 19366998, 19443465, 19920235, 20108422, 20179001, 21089071, 21548021, 21649642, 22751498, 23875798, 25074460, 25981987, 27313208, 27423141, 27503857 -