Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009733 | HP:0009733 | Glioma | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | | | | 3179 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | | | | 3179 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | | | | 385 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:613029 | Glioma susceptibility 3 | | | | 7642 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | | | | 289 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma syndrome | | | | 289 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | | | | 833 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:609265 | LI-FRAUMENI SYNDROME 2; LFS2 | | | | 833 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | | | | 170 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:137800 | Glioma susceptibility 1 | | | | 77 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | | | | 15 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | IDH1 CL E G H | 3417 | 5382 | OMIM:137800 | Glioma susceptibility 1 | | | | 15 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | | | | 15 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | | | | 29 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | | | | 196 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | | | | 1 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | | | | 1819 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | | | | 131 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | | | | 2162 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:619096 | MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2 | | | | 2162 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | | | | 2232 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040283 - Occasional | | | 706 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040284 - Very rare | | | 220 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | | | | 162 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | | | | 56 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | | | | 1121 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:616568 | Glioma susceptibility 9 | . | | | 23 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | | | | 1 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | | | | 1 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | | | | 48 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | | | | 253 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | | | | 911 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | | | | 911 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0009733 | HP:0009733 | Glioma | 0 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | | | | | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 385 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | BRCA2 CL E G H | 675 | 1101 | OMIM:613029 | Glioma susceptibility 3 | . | | | 7642 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | BRCA2 CL E G H | 675 | 1101 | OMIM:613029 | Glioma susceptibility 3 | . | | | 7642 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 102 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 289 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma syndrome | . | | | 289 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 170 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:137800 | Glioma susceptibility 1 | . | | | 77 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:137800 | Glioma susceptibility 1 | . | | | 77 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:137800 | Glioma susceptibility 1 | . | | | 77 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | IDH1 CL E G H | 3417 | 5382 | OMIM:137800 | Glioma susceptibility 1 | . | | | 15 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | IDH1 CL E G H | 3417 | 5382 | OMIM:137800 | Glioma susceptibility 1 | . | | | 15 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | IDH1 CL E G H | 3417 | 5382 | OMIM:137800 | Glioma susceptibility 1 | . | | | 15 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 462 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 1819 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | . | | | 1819 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0009733 | HP:0033681 | Oligodendroglioma | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 2162 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MSH2 CL E G H | 4436 | 7325 | OMIM:619096 | MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2 | | | | 2162 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | . | | | 5 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040282 - Frequent | | | 5 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 2232 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0009733 | HP:0010796 | Brainstem glioma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0009733 | HP:0010795 | Cerebellar glioma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | . | | | 1952 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040284 - Very rare | | | 220 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | . | | | 220 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 1121 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | PMS2 CL E G H | 5395 | 9122 | OMIM:619101 | MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4 | | | | 1121 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | POT1 CL E G H | 25913 | 17284 | OMIM:616568 | Glioma susceptibility 9 | . | | | 23 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | HP:0040280 - Obligate | | | 1 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 1 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 48 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 253 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | . | | | 911 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | . | | | 911 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:137800 | Glioma susceptibility 1 | . | | | 911 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0009733 | HP:0012174 | Glioblastoma multiforme | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0009733 | HP:0009592 | Astrocytoma | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0009733 | HP:0009734 | Optic nerve glioma | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0009733 | HP:0002888 | Ependymoma | 1 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | HP:0040280 - Obligate | | | | | |
HP:0009733 | HP:0033680 | Pilocytic astrocytoma | 2 | CL E G H | | | | | | | | | | |
HP:0009733 | HP:0009718 | Subependymal giant-cell astrocytoma | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 23 | | |
HP:0009733 | HP:0009718 | Subependymal giant-cell astrocytoma | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0009733 | HP:0033682 | Pleomorphic xanthoastrocytoma | 2 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0009733 | HP:0009718 | Subependymal giant-cell astrocytoma | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 1090 | | |
HP:0009733 | HP:0009718 | Subependymal giant-cell astrocytoma | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 2738 | | |
HP:0009733 | HP:0009718 | Subependymal giant-cell astrocytoma | 2 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |