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:0002136 | HP:0002136 | Broad-based gait | 0 | ADGRG1 CL E G H | 9289 | 606854 | Polymicrogyria, bilateral frontoparietal | 606854 | C1847352 | OMIM | 1 | | 625 | 4512 | 604110 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 810 | 22197 | 613653 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 178 | 779 | 608179 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 178 | 779 | 608179 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 879 | 1424 | 114010 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 279 | 19967 | 611204 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | CDK10 CL E G H | 8558 | 617694 | AL KAISSI SYNDROME | 617694 | C4540156 | OMIM | 1 | | 100 | 1770 | 603464 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | CHD3 CL E G H | 1107 | 618205 | SNIJDERS BLOK-CAMPEAU SYNDROME | 618205 | | OMIM | 1 | | 210 | 1918 | 602120 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 205 | 25223 | 609825 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 1 | | 347 | 2555 | 300304 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 602 | 2745 | 300160 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 1 | | 93 | 28908 | 606060 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 86 | 18062 | 138210 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 107 | 21033 | 610876 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | KMT2A CL E G H | 4297 | 605130 | Wiedemann-Steiner syndrome | 605130 | C1854630 | OMIM | 1 | | 1317 | 7132 | 159555 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 1 | | 582 | 23794 | 610423 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | PEX5 CL E G H | 5830 | 616716 | Rhizomelic chondrodysplasia punctata type 5 | 616716 | C4225237 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | PIGL CL E G H | 9487 | 280000 | Zunich neuroectodermal syndrome | 280000 | C1848392 | OMIM | 1 | | 127 | 8966 | 605947 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 140 | 9277 | 605100 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 187 | 13429 | 300379 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | RNF113A CL E G H | 7737 | 300953 | Trichothiodystrophy 5, nonphotosensitive | 300953 | C4225420 | OMIM | 1 | | 199 | 12974 | 300951 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 11 | 19380 | 0 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | SATB2 CL E G H | 23314 | 612313 | Chromosome 2q32-q33 deletion syndrome | 612313 | C2676739 | OMIM | 1 | | 566 | 21637 | 608148 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | SGCB CL E G H | 6443 | 119 | | | | ORPHA | 1 | | 419 | 10806 | 600900 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | SGCG CL E G H | 6445 | 353 | Kozlowski Warren Fisher syndrome | | | ORPHA | 1 | | 484 | 10809 | 608896 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | SHANK3 CL E G H | 85358 | 606232 | 22q13.3 deletion syndrome | 606232 | C1853490 | OMIM | 1 | | 776 | 14294 | 606230 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 264 | 11123 | 300105 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 52 | 25622 | 617687 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | THRA CL E G H | 7067 | 614450 | Hypothyroidism, congenital, nongoitrous, 6 | 614450 | C3280817 | OMIM | 1 | | 50 | 11796 | 190120 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 87 | 22407 | 613413 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TOP3A CL E G H | 7156 | 618098 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | 618098 | CN253818 | OMIM | 1 | | 199 | 11992 | 601243 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 334 | 15974 | 614141 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | UBE3A CL E G H | 7337 | 105830 | Angelman syndrome | 105830 | C0162635 | OMIM | 1 | | 993 | 12496 | 601623 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 80 | 26444 | 613012 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 507 | 12698 | 192977 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | WDR26 CL E G H | 80232 | 617616 | SKRABAN-DEARDORFF SYNDROME | 617616 | C4539927 | OMIM | 1 | | 125 | 21208 | 617424 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 86 | 12831 | 194363 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | YWHAG CL E G H | 7532 | 617665 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 | 617665 | C4540034 | OMIM | 1 | | 128 | 12852 | 605356 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | ZSWIM6 CL E G H | 57688 | 617865 | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | 617865 | CN800196 | OMIM | 1 | | 466 | 29316 | 615951 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 0 | | 810 | 22197 | 613653 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 0 | | 602 | 2745 | 300160 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | GTF2E2 CL E G H | 2961 | 616943 | Trichothiodystrophy 6, nonphotosensitive | 616943 | C4310785 | OMIM | 0 | | 141 | 4651 | 189964 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | KCND3 CL E G H | 3752 | 98772 | | | | ORPHA | 0 | | 399 | 6239 | 605411 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | NRXN1 CL E G H | 9378 | 614325 | Pitt-Hopkins-like syndrome 2 | 614325 | C3280479 | OMIM | 0 | | 1770 | 8008 | 600565 |
HP:0002136 | HP:0002136 | Broad-based gait | 0 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 0 | | 393 | 9701 | 600473 |