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:0003006 | HP:0003006 | Neuroblastoma | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | BDNF CL E G H | 627 | 1033 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:443167 | NUT midline carcinoma | HP:0040282 - Frequent | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 67 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 4 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | . | | | 1819 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | MYO1H CL E G H | 283446 | 13879 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | NUTM1 CL E G H | 256646 | 29919 | ORPHA:443167 | NUT midline carcinoma | HP:0040282 - Frequent | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | HP:0040283 - Occasional | | | 1349 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | | | | 86 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:613013 | Neuroblastoma, susceptibility to, 2 | | | | 86 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | RUNX1 CL E G H | 861 | 10471 | OMIM:601399 | Platelet disorder, familial, with associated myeloid malignancy | . | | | 181 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | HP:0040283 - Occasional | | | 237 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 14 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0003006 | Neuroblastoma | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003006 | HP:0030068 | Olfactory esthesioneuroblastoma | 1 | CL E G H | | | | | | | | | | |
HP:0003006 | HP:0006742 | Congenital neuroblastoma | 1 | CL E G H | | | | | | | | | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | BDNF CL E G H | 627 | 1033 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | EDN3 CL E G H | 1908 | 3178 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 67 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | GDNF CL E G H | 2668 | 4232 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0003006 | HP:0006768 | Localized neuroblastoma | 1 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | MYO1H CL E G H | 283446 | 13879 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | PHOX2B CL E G H | 8929 | 9143 | OMIM:613013 | Neuroblastoma, susceptibility to, 2 | | | | 86 | | |
HP:0003006 | HP:0006747 | Ganglioneuroblastoma | 1 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:661 | Ondine syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0003006 | HP:0006768 | Localized neuroblastoma | 1 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0003006 | HP:0006768 | Localized neuroblastoma | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |