Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 639 | 291 | 608222 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | AFF2 CL E G H | 2334 | 309548 | FRAXE | 309548 | C0751157 | OMIM | 1 | | 366 | 3776 | 300806 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 457 | 473 | 238310 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ANK3 CL E G H | 288 | 615493 | Mental retardation, autosomal recessive 37 | 615493 | C3809672 | OMIM | 1 | | 615 | 494 | 600465 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1806 | 870 | 606882 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 570 | 20893 | 300485 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 1 | | 173 | 28337 | 614260 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CAMTA1 CL E G H | 23261 | 314647 | | | | ORPHA | 1 | | 334 | 18806 | 611501 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CAMTA1 CL E G H | 23261 | 614756 | Cerebellar ataxia, nonprogressive, with mental retardation | 614756 | C3553661 | OMIM | 1 | | 334 | 18806 | 611501 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CEP152 CL E G H | 22995 | 614852 | Primary autosomal recessive microcephaly 9 | 614852 | C3553886 | OMIM | 1 | | 450 | 29298 | 613529 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1526 | 1917 | 602119 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 1 | | 141 | 24537 | 609512 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CLCN4 CL E G H | 1183 | 300114 | Mental retardation 49, X-linked | 300114 | C3887959 | OMIM | 1 | | 591 | 2022 | 302910 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 167 | 2309 | 605032 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 1 | | 347 | 2555 | 300304 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 101 | 19347 | 610648 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DGCR2 CL E G H | 9993 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 409 | 2845 | 600594 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DGCR6 CL E G H | 8214 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 336 | 2846 | 601279 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DGCR8 CL E G H | 54487 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 2847 | 609030 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 622 | 2972 | 602377 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ECM1 CL E G H | 1893 | 247100 | Lipid proteinosis | 247100 | C0023795 | OMIM | 1 | | 81 | 3153 | 602201 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | EEF1A2 CL E G H | 1917 | 616409 | Epileptic encephalopathy, early infantile, 33 | 616409 | C4225337 | OMIM | 1 | | 493 | 3192 | 602959 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | EEF1A2 CL E G H | 1917 | 616393 | Mental retardation, autosomal dominant 38 | 616393 | C4225343 | OMIM | 1 | | 493 | 3192 | 602959 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | EHMT1 CL E G H | 79813 | 610253 | Chromosome 9q deletion syndrome | 610253 | C0795833 | OMIM | 1 | | 1570 | 24650 | 607001 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ELP2 CL E G H | 55250 | 617270 | Mental retardation, autosomal recessive 58 | 617270 | C4310641 | OMIM | 1 | | 110 | 18248 | 616054 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 136 | 3363 | 601752 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 136 | 3363 | 601752 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ESS2 CL E G H | 8220 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 398 | 16817 | 601755 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 208 | 3671 | 601515 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | FIG4 CL E G H | 9896 | 612691 | Polymicrogyria, bilateral temporooccipital | 612691 | C2675191 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | FOXP1 CL E G H | 27086 | 613670 | Mental retardation with language impairment and with or without autistic features | 613670 | C3150923 | OMIM | 1 | | 449 | 3823 | 605515 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 352 | 29007 | 300838 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 732 | 4083 | 137192 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 162 | 4208 | 238330 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 1816 | 4313 | 238300 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 1 | | 455 | 4573 | 305915 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 1 | | 417 | 4601 | 138945 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | HERC2 CL E G H | 8924 | 615516 | Mental retardation, autosomal recessive 38 | 615516 | C3809753 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 222 | 4800 | 300256 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | IMPA1 CL E G H | 3612 | 617323 | Mental retardation, autosomal recessive 59 | 617323 | C4310619 | OMIM | 1 | | 50 | 6050 | 602064 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 620 | 21474 | 613037 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KDM5C CL E G H | 8242 | 85279 | | | | ORPHA | 1 | | 596 | 11114 | 314690 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KMT2A CL E G H | 4297 | 605130 | Wiedemann-Steiner syndrome | 605130 | C1854630 | OMIM | 1 | | 1317 | 7132 | 159555 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KNL1 CL E G H | 57082 | 604321 | Primary autosomal recessive microcephaly 4 | 604321 | C1858516 | OMIM | 1 | | 319 | 24054 | 609173 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | LEPR CL E G H | 3953 | 614963 | Leptin receptor deficiency | 614963 | C3554225 | OMIM | 1 | | 222 | 6554 | 601007 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MAN1B1 CL E G H | 11253 | 614202 | Mental retardation, autosomal recessive 15 | 614202 | C3280127 | OMIM | 1 | | 398 | 6823 | 604346 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MANBA CL E G H | 4126 | 248510 | Beta-D-mannosidosis | 248510 | C4048196 | OMIM | 1 | | 349 | 6831 | 609489 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MAOA CL E G H | 4128 | 300615 | Monoamine oxidase A deficiency | 300615 | C0796275 | OMIM | 1 | | 259 | 6833 | 309850 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 66 | 6872 | 602897 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 1 | | 514 | 6893 | 157140 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 1149 | 20444 | 611472 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MED12 CL E G H | 9968 | 309520 | X-linked mental retardation with marfanoid habitus syndrome | 309520 | C0796022 | OMIM | 1 | | 1236 | 11957 | 300188 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | MYT1L CL E G H | 23040 | 616521 | Mental retardation, autosomal dominant 39 | 616521 | C4225296 | OMIM | 1 | | 383 | 7623 | 613084 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NAGLU CL E G H | 4669 | 252920 | Mucopolysaccharidosis, MPS-III-B | 252920 | C0086648 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 272 | 7678 | 300658 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NDST1 CL E G H | 3340 | 616116 | Mental retardation, autosomal recessive 46 | 616116 | C4015283 | OMIM | 1 | | 125 | 7680 | 600853 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 204 | 7871 | 300084 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PACS1 CL E G H | 55690 | 615009 | Schuurs-hoeijmakers syndrome | 615009 | C3554343 | OMIM | 1 | | 329 | 30032 | 607492 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1316 | 8582 | 612349 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PAK3 CL E G H | 5063 | 300558 | Mental retardation 30, X-linked | 300558 | C0796237 | OMIM | 1 | | 292 | 8592 | 300142 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PCDH19 CL E G H | 57526 | 300088 | Early infantile epileptic encephalopathy 9 | 300088 | C1848137 | OMIM | 1 | | 1120 | 14270 | 300460 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PHIP CL E G H | 55023 | 617991 | DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES | 617991 | CN248510 | OMIM | 1 | | 249 | 15673 | 612870 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PIGH CL E G H | 5283 | 618010 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | 618010 | CN248527 | OMIM | 1 | | 18 | 8964 | 600154 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 36 | 28213 | 610662 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 164 | 9449 | 176640 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PRODH CL E G H | 5625 | 239500 | Proline dehydrogenase deficiency | 239500 | C0268529 | OMIM | 1 | | 639 | 9453 | 606810 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | RBBP8 CL E G H | 5932 | 251255 | Microcephaly with mental retardation and digital anomalies | 251255 | C0796063 | OMIM | 1 | | 237 | 9891 | 604124 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | RUSC2 CL E G H | 9853 | 617773 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 | 617773 | C4540424 | OMIM | 1 | | 584 | 23625 | 611053 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SASS6 CL E G H | 163786 | 616402 | Primary autosomal recessive microcephaly 14 | 616402 | C4225338 | OMIM | 1 | | 80 | 25403 | 609321 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SATB2 CL E G H | 23314 | 612313 | Chromosome 2q32-q33 deletion syndrome | 612313 | C2676739 | OMIM | 1 | | 566 | 21637 | 608148 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 3464 | 10585 | 182389 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SETD2 CL E G H | 29072 | 616831 | Luscan-lumish syndrome | 616831 | C4085873 | OMIM | 1 | | 830 | 18420 | 612778 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SH2B1 CL E G H | 25970 | 329249 | | | | ORPHA | 1 | | 204 | 30417 | 608937 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 218 | 19353 | 607776 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 61 | 31399 | 610299 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 903 | 11055 | 300036 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLITRK1 CL E G H | 114798 | 137580 | Tourette Syndrome | 137580 | C0040517 | OMIM | 1 | | 181 | 20297 | 609678 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SMARCA2 CL E G H | 6595 | 601358 | Nicolaides-Baraitser syndrome | 601358 | C1303073 | OMIM | 1 | | 886 | 11098 | 600014 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1014 | 11233 | 604277 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 160 | 11257 | 182125 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 1 | | 542 | 11280 | 601530 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SYN1 CL E G H | 6853 | 85294 | | | | ORPHA | 1 | | 463 | 11494 | 313440 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SYN1 CL E G H | 6853 | 300491 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 | C1845343 | OMIM | 1 | | 463 | 11494 | 313440 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 795 | 29203 | 613577 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TBX1 CL E G H | 6899 | 192430 | Shprintzen syndrome | 192430 | C0220704 | OMIM | 1 | | 972 | 11592 | 602054 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 1 | | 87 | 22407 | 613413 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TMEM231 CL E G H | 79583 | 614970 | Joubert syndrome 20 | 614970 | C3554235 | OMIM | 1 | | 341 | 37234 | 614949 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 1 | | 110 | 17761 | 605086 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TRIO CL E G H | 7204 | 617061 | Mental retardation, autosomal dominant 44 | 617061 | C4310740 | OMIM | 1 | | 930 | 12303 | 601893 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TRIP12 CL E G H | 9320 | 617752 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 | 617752 | C4540324 | OMIM | 1 | | 247 | 12306 | 604506 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 263 | 26006 | 613814 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TTI2 CL E G H | 80185 | 615541 | Mental retardation, autosomal recessive 39 | 615541 | C3809853 | OMIM | 1 | | 110 | 26262 | 614426 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 85 | 12449 | 604142 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | UBE2A CL E G H | 7319 | 300860 | Syndromic mental retardation, Nascimento type, X-linked | 300860 | C3275464 | OMIM | 1 | | 207 | 12472 | 312180 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | UQCC2 CL E G H | 84300 | 615824 | Mitochondrial complex III deficiency, nuclear type 7 | 615824 | C4014408 | OMIM | 1 | | 49 | 21237 | 614461 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | UROC1 CL E G H | 131669 | 276880 | Urocanate hydratase deficiency | 276880 | C0268514 | OMIM | 1 | | 80 | 26444 | 613012 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | WAC CL E G H | 51322 | 616708 | Desanto-shinawi syndrome | 616708 | C4225239 | OMIM | 1 | | 213 | 17327 | 615049 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | WDR62 CL E G H | 284403 | 604317 | Primary autosomal recessive microcephaly 2 | 604317 | C1858535 | OMIM | 1 | | 687 | 24502 | 613583 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ZMYND11 CL E G H | 10771 | 616083 | Mental retardation, autosomal dominant 30 | 616083 | C4015167 | OMIM | 1 | | 179 | 16966 | 608668 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ADAT3 CL E G H | 113179 | 615286 | Mental retardation, autosomal recessive 36 | 615286 | C3809039 | OMIM | 0 | | 93 | 25151 | 615302 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 0 | | 108 | 10549 | 611150 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | BCAP31 CL E G H | 10134 | 369939 | | | | ORPHA | 0 | | 308 | 16695 | 300398 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 0 | | 191 | 3581 | 601819 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | C12orf4 CL E G H | 57102 | 618221 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 | 618221 | | OMIM | 0 | | 79 | 1184 | 616082 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 0 | | 312 | 1404 | 601949 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1526 | 1917 | 602119 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 0 | | 227 | 2020 | 600570 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 0 | | 347 | 2555 | 300304 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 0 | | 602 | 2745 | 300160 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 0 | | 258 | 2995 | 191350 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | DPYD CL E G H | 1806 | 293948 | | | | ORPHA | 0 | | 379 | 3012 | 612779 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 0 | | 436 | 16406 | 608815 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 0 | | 519 | 4075 | 137160 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 0 | | 397 | 4084 | 137163 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 0 | | | 21219 | 612325 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 0 | | 71 | 6199 | 603210 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 0 | | 1082 | 6297 | 602232 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 0 | | 1678 | 18865 | 608167 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KDM5C CL E G H | 8242 | 300534 | Mental retardation, syndromic, Claes-Jensen type, X-linked | 300534 | C1845243 | OMIM | 0 | | 596 | 11114 | 314690 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | KIF11 CL E G H | 3832 | 152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | 152950 | C1835265 | OMIM | 0 | | 605 | 6388 | 148760 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | LINS1 CL E G H | 55180 | 614340 | Mental retardation, autosomal recessive 27 | 614340 | C3280538 | OMIM | 0 | | 255 | 30922 | 610350 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | NFIB CL E G H | 4781 | 618286 | 618286 | 618286 | | OMIM | 0 | | 175 | 7785 | 600728 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PRRT2 CL E G H | 112476 | 98811 | | | | ORPHA | 0 | | 702 | 30500 | 614386 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | PSMD12 CL E G H | 5718 | 529962 | | | | ORPHA | 0 | | 53 | 9557 | 604450 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SATB2 CL E G H | 23314 | 251019 | | | | ORPHA | 0 | | 566 | 21637 | 608148 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SHANK3 CL E G H | 85358 | 606232 | 22q13.3 deletion syndrome | 606232 | C1853490 | OMIM | 0 | | 776 | 14294 | 606230 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC2A1 CL E G H | 6513 | 98811 | | | | ORPHA | 0 | | 827 | 11005 | 138140 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 458 | 30224 | 607882 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 0 | | 458 | 30224 | 607882 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 399 | 16187 | 613350 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 674 | 11042 | 137165 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | SOX5 CL E G H | 6660 | 313892 | | | | ORPHA | 0 | | 205 | 11201 | 604975 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | TCF4 CL E G H | 6925 | 2896 | Hypogonadism retinitis pigmentosa | | | ORPHA | 0 | | 913 | 11634 | 602272 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | USP9X CL E G H | 8239 | 300919 | Mental retardation, X-linked 99 | 300919 | C3806746 | OMIM | 0 | | 568 | 12632 | 300072 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 0 | | 504 | 28912 | 300526 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 0 | | 504 | 28912 | 300526 |
HP:0000718 | HP:0000718 | Aggressive behavior | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 168 | 13503 | 606025 |