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:0003487 | HP:0003487 | Babinski sign | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 247 | 48 | 300135 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 818 | 225 | 146920 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ADGRG1 CL E G H | 9289 | 606854 | Polymicrogyria, bilateral frontoparietal | 606854 | C1847352 | OMIM | 1 | | 625 | 4512 | 604110 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALDH18A1 CL E G H | 5832 | 447760 | | | | ORPHA | 1 | | 437 | 9722 | 138250 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 1 | | 437 | 9722 | 138250 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 1 | | 437 | 9722 | 138250 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 300 | 572 | 607245 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 300 | 572 | 607245 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 377 | 573 | 607244 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 377 | 573 | 607244 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 311 | 574 | 602296 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4M1 CL E G H | 9179 | 612936 | Spastic paraplegia 50, autosomal recessive | 612936 | C2752008 | OMIM | 1 | | 311 | 574 | 602296 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 122 | 575 | 607243 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 122 | 575 | 607243 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATL1 CL E G H | 51062 | 100984 | | | | ORPHA | 1 | | 408 | 11231 | 606439 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 738 | 30213 | 610513 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP6AP2 CL E G H | 10159 | 363654 | | | | ORPHA | 1 | | 303 | 18305 | 300556 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 46 | 7106 | 607047 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN3 CL E G H | 4287 | 276241 | | | | ORPHA | 1 | | 46 | 7106 | 607047 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN3 CL E G H | 4287 | 276238 | | | | ORPHA | 1 | | 46 | 7106 | 607047 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 42 | 10560 | 607640 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 1 | | 42 | 10560 | 607640 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 1 | | 192 | 4117 | 601873 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | BSCL2 CL E G H | 26580 | 100998 | | | | ORPHA | 1 | | 435 | 15832 | 606158 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C12orf65 CL E G H | 91574 | 320375 | | | | ORPHA | 1 | | | 26784 | 613541 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2689 | 1388 | 601011 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 445 | 1394 | 604065 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 124 | 1476 | 114220 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 314 | 1618 | 610150 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CCT5 CL E G H | 22948 | 256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | 256840 | C1850395 | OMIM | 1 | | 314 | 1618 | 610150 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 141 | 24537 | 609512 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 267 | 8011 | 602346 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1258 | 2202 | 120130 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CPT1C CL E G H | 126129 | 444099 | | | | ORPHA | 1 | | 133 | 18540 | 608846 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 182 | 2531 | 603539 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 66 | 25613 | 616120 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CYP2U1 CL E G H | 113612 | 320411 | | | | ORPHA | 1 | | 195 | 20582 | 610670 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CYP2U1 CL E G H | 113612 | 615030 | Spastic paraplegia 56, autosomal recessive | 615030 | C3539507 | OMIM | 1 | | 195 | 20582 | 610670 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 333 | 2652 | 603711 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DARS CL E G H | 1615 | 615281 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 615281 | C3809008 | OMIM | 1 | | | 2678 | 603084 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 294 | 25538 | 610956 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 365 | 2719 | 107930 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DDHD1 CL E G H | 80821 | 609340 | Spastic paraplegia 28, autosomal recessive | 609340 | C1836295 | OMIM | 1 | | 302 | 19714 | 614603 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DPM3 CL E G H | 54344 | 263494 | | | | ORPHA | 1 | | 60 | 3007 | 605951 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 159 | 1356 | 611605 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 312 | 21197 | 611026 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 312 | 21197 | 611026 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FAM126A CL E G H | 84668 | 610532 | Hypomyelination and Congenital Cataract | 610532 | C1864663 | OMIM | 1 | | | 24587 | 610531 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FARS2 CL E G H | 10667 | 617046 | Spastic paraplegia 77, autosomal recessive | 617046 | C4310750 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 191 | 13586 | 605648 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 143 | 3951 | 606829 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GAD1 CL E G H | 2571 | 603513 | Cerebral palsy, spastic quadriplegic, 1 | 603513 | C2751938 | OMIM | 1 | | 189 | 4092 | 605363 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 277 | 18986 | 609471 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 1 | | 277 | 18986 | 609471 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 1 | | 77 | 20134 | 609588 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 77 | 20134 | 609588 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 86 | 18062 | 138210 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | HSPD1 CL E G H | 3329 | 100994 | | | | ORPHA | 1 | | 207 | 5261 | 118190 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | HSPD1 CL E G H | 3329 | 612233 | Leukodystrophy, hypomyelinating, 4 | 612233 | C2677109 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | HSPD1 CL E G H | 3329 | 605280 | Spastic paraplegia 13 | 605280 | C1854467 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 225 | 9476 | 602194 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | IBA57 CL E G H | 200205 | 616451 | Spastic paraplegia 74, autosomal recessive | 616451 | C4225322 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KCNA1 CL E G H | 3736 | 160120 | Episodic ataxia type 1 | 160120 | C1719788 | OMIM | 1 | | 476 | 6218 | 176260 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KDM5C CL E G H | 8242 | 300534 | Mental retardation, syndromic, Claes-Jensen type, X-linked | 300534 | C1845243 | OMIM | 1 | | 596 | 11114 | 314690 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 2132 | 888 | 601255 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KIF1A CL E G H | 547 | 610357 | Spastic paraplegia 30, autosomal recessive | 610357 | C1835896 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 366 | 6317 | 603060 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 169 | 6637 | 150340 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MAG CL E G H | 4099 | 459056 | | | | ORPHA | 1 | | 171 | 6783 | 159460 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1015 | 6826 | 609458 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 538 | 13356 | 605248 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 199 | 25532 | 613669 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 199 | 25532 | 613669 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 332 | 7707 | 157655 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NIPA1 CL E G H | 123606 | 600363 | Spastic paraplegia 6 | 600363 | C1838192 | OMIM | 1 | | 576 | 17043 | 608145 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NOP56 CL E G H | 10528 | 276198 | | | | ORPHA | 1 | | 42 | 15911 | 614154 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 42 | 15911 | 614154 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NT5C2 CL E G H | 22978 | 320396 | | | | ORPHA | 1 | | 158 | 8022 | 600417 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NT5C2 CL E G H | 22978 | 613162 | Spastic paraplegia 45, autosomal recessive | 613162 | C3888209 | OMIM | 1 | | 158 | 8022 | 600417 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 237 | 20278 | 613621 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 97 | 8066 | 605815 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | OPA1 CL E G H | 4976 | 210000 | Abortive cerebellar ataxia | 210000 | C0221061 | OMIM | 1 | | 885 | 8140 | 605290 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 448 | 8142 | 606580 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 167 | 8820 | 131340 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 167 | 8820 | 131340 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PGAP1 CL E G H | 80055 | 401820 | | | | ORPHA | 1 | | 261 | 25712 | 611655 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 161 | 14938 | 610272 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PLP1 CL E G H | 5354 | 99015 | | | | ORPHA | 1 | | 391 | 9086 | 300401 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PNPLA6 CL E G H | 10908 | 139480 | | | | ORPHA | 1 | | 943 | 16268 | 603197 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 785 | 30074 | 614258 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 785 | 30074 | 614258 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 368 | 30348 | 614366 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PRICKLE1 CL E G H | 144165 | 612437 | Progressive myoclonus epilepsy with ataxia | 612437 | C2676254 | OMIM | 1 | | 488 | 17019 | 608500 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 164 | 9449 | 176640 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PRSS12 CL E G H | 8492 | 249500 | Mental retardation, autosomal recessive 1 | 249500 | C1855304 | OMIM | 1 | | 177 | 9477 | 606709 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 452 | 9508 | 104311 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 104 | 30262 | 616406 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | REEP2 CL E G H | 51308 | 615625 | Spastic paraplegia 72, autosomal recessive | 615625 | C3810160 | OMIM | 1 | | 76 | 17975 | 609347 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | RNF170 CL E G H | 81790 | 608984 | Ataxia, sensory, autosomal dominant | 608984 | C1837015 | OMIM | 1 | | 68 | 25358 | 614649 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | RTN2 CL E G H | 6253 | 100993 | | | | ORPHA | 1 | | 184 | 10468 | 603183 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | RTN2 CL E G H | 6253 | 604805 | Spastic paraplegia 12 | 604805 | C1858106 | OMIM | 1 | | 184 | 10468 | 603183 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | RUSC2 CL E G H | 9853 | 617773 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 | 617773 | C4540424 | OMIM | 1 | | 584 | 23625 | 611053 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SACS CL E G H | 26278 | 98 | | | | ORPHA | 1 | | 2506 | 10519 | 604490 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SAMD9L CL E G H | 219285 | 159550 | Myelocerebellar disorder | 159550 | C1327919 | OMIM | 1 | | 379 | 1349 | 611170 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2186 | 10680 | 600857 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 1 | | 60 | 33867 | 612848 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 60 | 33867 | 612848 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 607 | 10683 | 602690 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 1 | | 1290 | 445 | 608465 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1290 | 445 | 608465 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 355 | 10923 | 300095 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 143 | 10942 | 600229 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC33A1 CL E G H | 9197 | 171863 | | | | ORPHA | 1 | | 145 | 95 | 603690 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC33A1 CL E G H | 9197 | 612539 | Spastic paraplegia 42, autosomal dominant | 612539 | C2675528 | OMIM | 1 | | 145 | 95 | 603690 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 177 | 11138 | 163890 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 162 | 14977 | 616105 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 1 | | 1014 | 11233 | 604277 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1014 | 11233 | 604277 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 145 | 20373 | 608181 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPG7 CL E G H | 6687 | 35689 | | | | ORPHA | 1 | | 778 | 11237 | 602783 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 1 | | 778 | 11237 | 602783 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TAF2 CL E G H | 6873 | 615599 | Mental retardation, autosomal recessive 40 | 615599 | C3810080 | OMIM | 1 | | 169 | 11536 | 604912 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TARDBP CL E G H | 23435 | 612069 | Amyotrophic lateral sclerosis type 10 | 612069 | C2677565 | OMIM | 1 | | 259 | 11571 | 605078 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 307 | 11758 | 602498 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 1 | | 289 | 16255 | 613900 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 289 | 16255 | 613900 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TPP1 CL E G H | 1200 | 284324 | | | | ORPHA | 1 | | 849 | 2073 | 607998 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TRMT5 CL E G H | 57570 | 616539 | Combined oxidative phosphorylation deficiency 26 | 616539 | C4225290 | OMIM | 1 | | 98 | 23141 | 611023 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 239 | 28422 | 608753 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 85 | 12449 | 604142 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 111 | 12513 | 191342 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | VAMP1 CL E G H | 6843 | 251282 | | | | ORPHA | 1 | | 118 | 12642 | 185880 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | VCP CL E G H | 7415 | 329475 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | WASHC5 CL E G H | 9897 | 100989 | | | | ORPHA | 1 | | 527 | 28984 | 610657 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ZFR CL E G H | 51663 | 401840 | | | | ORPHA | 1 | | 90 | 17277 | 615635 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 1 | | 1894 | 20761 | 612012 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ZFYVE27 CL E G H | 118813 | 610244 | Spastic paraplegia 33, autosomal dominant | 610244 | C1853251 | OMIM | 1 | | 154 | 26559 | 610243 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 0 | | 953 | 713 | 607574 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 0 | | 953 | 713 | 607574 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 0 | | 953 | 713 | 607574 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 0 | | 303 | 18305 | 300556 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 0 | | 108 | 10549 | 611150 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 0 | | 173 | 28337 | 614260 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 0 | | 445 | 1394 | 604065 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 124 | 1476 | 114220 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 0 | | 248 | 15559 | 615903 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 0 | | 141 | 24537 | 609512 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 0 | | 24 | 2891 | 605189 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 0 | | 105 | 9439 | 601184 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 0 | | 105 | 9439 | 601184 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 995 | 2976 | 126375 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | EEF2 CL E G H | 1938 | 101112 | | | | ORPHA | 0 | | 204 | 3214 | 130610 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | ERLIN1 CL E G H | 10613 | 615681 | Spastic paraplegia 62, autosomal recessive | 615681 | C4284588 | OMIM | 0 | | 97 | 16947 | 611604 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 0 | | 409 | 4010 | 137070 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 0 | | 661 | 4137 | 605379 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GJB1 CL E G H | 2705 | 1175 | CDK4 linked melanoma | | | ORPHA | 0 | | 797 | 4283 | 304040 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 0 | | 797 | 4283 | 304040 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 0 | | 158 | 4576 | 602368 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 0 | | 630 | 4801 | 600890 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 0 | | 263 | 4803 | 143450 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 0 | | 178 | 27302 | 615316 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | KY CL E G H | 339855 | 496689 | | | | ORPHA | 0 | | 87 | 26576 | 605739 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 0 | | 463 | 6971 | 154100 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 0 | | 1063 | 16877 | 608507 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | MT-ATP6 CL E G H | 4508 | 320360 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 0 | | 465 | 7737 | 162230 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PIK3R5 CL E G H | 23533 | 64753 | | | | ORPHA | 0 | | 48 | 30035 | 611317 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 0 | | 598 | 9498 | 176801 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 0 | | 598 | 9498 | 176801 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 0 | | 598 | 9498 | 176801 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 0 | | 104 | 18466 | 604123 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SETX CL E G H | 23064 | 64753 | | | | ORPHA | 0 | | 1290 | 445 | 608465 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 0 | | 325 | 25198 | 610826 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 0 | | 542 | 11280 | 601530 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 0 | | 259 | 11571 | 605078 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 0 | | 294 | 11584 | 604834 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TSEN15 CL E G H | 116461 | 617026 | Pontocerebellar hypoplasia, type 2f | 617026 | C4310757 | OMIM | 0 | | 53 | 16791 | 608756 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 0 | | 263 | 26006 | 613814 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 0 | | 473 | 12666 | 601023 |
HP:0003487 | HP:0003487 | Babinski sign | 0 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 0 | | 967 | 12799 | 605131 |