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:0012780 | HP:0012780 | Neoplasm of the ear | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0012780 | HP:0012780 | Neoplasm of the ear | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0012780 | HP:0040095 | Neoplasm of the outer ear | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0012780 | HP:0040095 | Neoplasm of the outer ear | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0012780 | HP:0100799 | Neoplasm of the middle ear | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0012780 | HP:0040096 | Neoplasm of the inner ear | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0012780 | HP:0040098 | Basalioma of the outer ear | 2 | CL E G H | | | | | | | | | | |
HP:0012780 | HP:0040097 | Neoplasm of the ceruminal gland | 2 | CL E G H | | | | | | | | | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0012780 | HP:0030393 | Endolymphatic sac tumor | 2 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0012780 | HP:0004459 | Exostosis of the external auditory canal | 2 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0012780 | HP:0009588 | Vestibular schwannoma | 2 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0012780 | HP:0004459 | Exostosis of the external auditory canal | 2 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0012780 | HP:0009588 | Vestibular schwannoma | 2 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | . | | | | | |
HP:0012780 | HP:0009588 | Vestibular schwannoma | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0012780 | HP:0009588 | Vestibular schwannoma | 2 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0012780 | HP:0009588 | Vestibular schwannoma | 2 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0012780 | HP:0009797 | Cholesteatoma | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0012780 | HP:0030393 | Endolymphatic sac tumor | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0012780 | HP:0009589 | Bilateral vestibular schwannoma | 3 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040282 - Frequent | | | 220 | | |
HP:0012780 | HP:0009590 | Unilateral vestibular schwannoma | 3 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0012780 | HP:0009589 | Bilateral vestibular schwannoma | 3 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |