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:0003676 | HP:0003676 | Progressive | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 187 | 13666 | 605378 |
HP:0003676 | HP:0003676 | Progressive | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0003676 | HP:0003676 | Progressive | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1220 | 61 | 300371 |
HP:0003676 | HP:0003676 | Progressive | 0 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 50 | 67 | 170995 |
HP:0003676 | HP:0003676 | Progressive | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 49 | 16066 | 617036 |
HP:0003676 | HP:0003676 | Progressive | 0 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0003676 | HP:0003676 | Progressive | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 90 | 257 | 102750 |
HP:0003676 | HP:0003676 | Progressive | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0003676 | HP:0003676 | Progressive | 0 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 66 | 17258 | 606830 |
HP:0003676 | HP:0003676 | Progressive | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 487 | 8768 | 300169 |
HP:0003676 | HP:0003676 | Progressive | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0003676 | HP:0003676 | Progressive | 0 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 125 | 20609 | 600859 |
HP:0003676 | HP:0003676 | Progressive | 0 | AKT1 CL E G H | 207 | 176920 | Proteus syndrome | 176920 | C0085261 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0003676 | HP:0003676 | Progressive | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0003676 | HP:0003676 | Progressive | 0 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003676 | HP:0003676 | Progressive | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003676 | HP:0003676 | Progressive | 0 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0003676 | HP:0003676 | Progressive | 0 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0003676 | HP:0003676 | Progressive | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 810 | 22197 | 613653 |
HP:0003676 | HP:0003676 | Progressive | 0 | ASAH1 CL E G H | 427 | 228000 | Farber disease | 228000 | C0268255 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0003676 | HP:0003676 | Progressive | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0003676 | HP:0003676 | Progressive | 0 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 432 | 753 | 108370 |
HP:0003676 | HP:0003676 | Progressive | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0003676 | HP:0003676 | Progressive | 0 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0003676 | HP:0003676 | Progressive | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 46 | 7106 | 607047 |
HP:0003676 | HP:0003676 | Progressive | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003676 | HP:0003676 | Progressive | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0003676 | HP:0003676 | Progressive | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0003676 | HP:0003676 | Progressive | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003676 | HP:0003676 | Progressive | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0003676 | HP:0003676 | Progressive | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003676 | HP:0003676 | Progressive | 0 | CACNA1A CL E G H | 773 | 183086 | Spinocerebellar ataxia 6 | 183086 | C0752124 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0003676 | HP:0003676 | Progressive | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 469 | 1389 | 601012 |
HP:0003676 | HP:0003676 | Progressive | 0 | CAD CL E G H | 790 | 616457 | Epileptic encephalopathy, early infantile, 50 | 616457 | C4225320 | OMIM | 1 | | 879 | 1424 | 114010 |
HP:0003676 | HP:0003676 | Progressive | 0 | CCNO CL E G H | 10309 | 615872 | Ciliary dyskinesia, primary, 29 | 615872 | C4014534 | OMIM | 1 | | 130 | 18576 | 607752 |
HP:0003676 | HP:0003676 | Progressive | 0 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 326 | 14253 | 606919 |
HP:0003676 | HP:0003676 | Progressive | 0 | CFHR5 CL E G H | 81494 | 614809 | CFHR5 deficiency | 614809 | C3553720 | OMIM | 1 | | 168 | 24668 | 608593 |
HP:0003676 | HP:0003676 | Progressive | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0003676 | HP:0003676 | Progressive | 0 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0003676 | HP:0003676 | Progressive | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 453 | 30664 | 616254 |
HP:0003676 | HP:0003676 | Progressive | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 175 | 29932 | 609855 |
HP:0003676 | HP:0003676 | Progressive | 0 | COCH CL E G H | 1690 | 601369 | Deafness, autosomal dominant 9 | 601369 | C1832425 | OMIM | 1 | | 203 | 2180 | 603196 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A3 CL E G H | 1285 | 104200 | Alport syndrome, autosomal dominant | 104200 | C1567743 | OMIM | 1 | | 1667 | 2204 | 120070 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A3 CL E G H | 1285 | 203780 | Alport syndrome, autosomal recessive | 203780 | C1567744 | OMIM | 1 | | 1667 | 2204 | 120070 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A4 CL E G H | 1286 | 203780 | Alport syndrome, autosomal recessive | 203780 | C1567744 | OMIM | 1 | | 1863 | 2206 | 120131 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL4A5 CL E G H | 1287 | 301050 | Alport syndrome, X-linked recessive | 301050 | C1567742 | OMIM | 1 | | 1765 | 2207 | 303630 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0003676 | HP:0003676 | Progressive | 0 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0003676 | HP:0003676 | Progressive | 0 | COPB2 CL E G H | 9276 | 617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | 617800 | C4540488 | OMIM | 1 | | 58 | 2232 | 606990 |
HP:0003676 | HP:0003676 | Progressive | 0 | COQ8B CL E G H | 79934 | 615573 | Nephrotic syndrome, type 9 | 615573 | C3809965 | OMIM | 1 | | 162 | 19041 | 615567 |
HP:0003676 | HP:0003676 | Progressive | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 293 | 2260 | 602125 |
HP:0003676 | HP:0003676 | Progressive | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 251 | 2263 | 603646 |
HP:0003676 | HP:0003676 | Progressive | 0 | CRAT CL E G H | 1384 | 617917 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 | 617917 | CN895591 | OMIM | 1 | | 132 | 2342 | 600184 |
HP:0003676 | HP:0003676 | Progressive | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0003676 | HP:0003676 | Progressive | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 182 | 2531 | 603539 |
HP:0003676 | HP:0003676 | Progressive | 0 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 1 | | 333 | 2652 | 603711 |
HP:0003676 | HP:0003676 | Progressive | 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:0003676 | HP:0003676 | Progressive | 0 | DCDC2 CL E G H | 51473 | 617394 | Sclerosing cholangitis, neonatal | 617394 | C4479344 | OMIM | 1 | | 201 | 18141 | 605755 |
HP:0003676 | HP:0003676 | Progressive | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 249 | 29106 | 615003 |
HP:0003676 | HP:0003676 | Progressive | 0 | DGKE CL E G H | 8526 | 615008 | Nephrotic syndrome, type 7 | 615008 | C3554330 | OMIM | 1 | | 110 | 2852 | 601440 |
HP:0003676 | HP:0003676 | Progressive | 0 | DIABLO CL E G H | 56616 | 614152 | Deafness, autosomal dominant 64 | 614152 | C3279948 | OMIM | 1 | | 100 | 21528 | 605219 |
HP:0003676 | HP:0003676 | Progressive | 0 | DMXL2 CL E G H | 23312 | 617605 | DEAFNESS, AUTOSOMAL DOMINANT 71 | 617605 | C4539881 | OMIM | 1 | | 439 | 2938 | 612186 |
HP:0003676 | HP:0003676 | Progressive | 0 | DNAJB11 CL E G H | 51726 | 618061 | POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | 618061 | CN252647 | OMIM | 1 | | 111 | 14889 | 611341 |
HP:0003676 | HP:0003676 | Progressive | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0003676 | HP:0003676 | Progressive | 0 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0003676 | HP:0003676 | Progressive | 0 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 995 | 2976 | 126375 |
HP:0003676 | HP:0003676 | Progressive | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0003676 | HP:0003676 | Progressive | 0 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1458 | 5959 | 603722 |
HP:0003676 | HP:0003676 | Progressive | 0 | ELP2 CL E G H | 55250 | 617270 | Mental retardation, autosomal recessive 58 | 617270 | C4310641 | OMIM | 1 | | 110 | 18248 | 616054 |
HP:0003676 | HP:0003676 | Progressive | 0 | EMC1 CL E G H | 23065 | 616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | 616875 | C4225172 | OMIM | 1 | | 689 | 28957 | 616846 |
HP:0003676 | HP:0003676 | Progressive | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0003676 | HP:0003676 | Progressive | 0 | ERLIN1 CL E G H | 10613 | 615681 | Spastic paraplegia 62, autosomal recessive | 615681 | C4284588 | OMIM | 1 | | 97 | 16947 | 611604 |
HP:0003676 | HP:0003676 | Progressive | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0003676 | HP:0003676 | Progressive | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 156 | 9137 | 606180 |
HP:0003676 | HP:0003676 | Progressive | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 312 | 21197 | 611026 |
HP:0003676 | HP:0003676 | Progressive | 0 | FAN1 CL E G H | 22909 | 614817 | Interstitial nephritis, karyomegalic | 614817 | C3553774 | OMIM | 1 | | 360 | 29170 | 613534 |
HP:0003676 | HP:0003676 | Progressive | 0 | FHL1 CL E G H | 2273 | 300696 | Myopathy with postural muscle atrophy, X-linked | 300696 | C2678055 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0003676 | HP:0003676 | Progressive | 0 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 749 | 16873 | 609390 |
HP:0003676 | HP:0003676 | Progressive | 0 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0003676 | HP:0003676 | Progressive | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 151 | 3999 | 134790 |
HP:0003676 | HP:0003676 | Progressive | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0003676 | HP:0003676 | Progressive | 0 | GNAS CL E G H | 2778 | 166350 | Progressive osseous heteroplasia | 166350 | C0334041 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0003676 | HP:0003676 | Progressive | 0 | GNS CL E G H | 2799 | 252940 | Mucopolysaccharidosis, MPS-III-D | 252940 | C0086650 | OMIM | 1 | | 428 | 4422 | 607664 |
HP:0003676 | HP:0003676 | Progressive | 0 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 272 | 4431 | 604027 |
HP:0003676 | HP:0003676 | Progressive | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 86 | 18062 | 138210 |
HP:0003676 | HP:0003676 | Progressive | 0 | GRHL2 CL E G H | 79977 | 608641 | Deafness, autosomal dominant 28 | 608641 | C1837640 | OMIM | 1 | | 196 | 2799 | 608576 |
HP:0003676 | HP:0003676 | Progressive | 0 | HINT1 CL E G H | 3094 | 137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CN074193 | OMIM | 1 | | 130 | 4912 | 601314 |
HP:0003676 | HP:0003676 | Progressive | 0 | HK1 CL E G H | 3098 | 605285 | Neuropathy, hereditary motor and sensory, Russe type | 605285 | C1854449 | OMIM | 1 | | 391 | 4922 | 142600 |
HP:0003676 | HP:0003676 | Progressive | 0 | HSPD1 CL E G H | 3329 | 605280 | Spastic paraplegia 13 | 605280 | C1854467 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0003676 | HP:0003676 | Progressive | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003676 | HP:0003676 | Progressive | 0 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0003676 | HP:0003676 | Progressive | 0 | INPP5K CL E G H | 51763 | 617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | 617404 | C4479410 | OMIM | 1 | | 157 | 33882 | 607875 |
HP:0003676 | HP:0003676 | Progressive | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 167 | 14282 | 611720 |
HP:0003676 | HP:0003676 | Progressive | 0 | ISCA1 CL E G H | 81689 | 617613 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 | 617613 | C4539919 | OMIM | 1 | | 44 | 28660 | 611006 |
HP:0003676 | HP:0003676 | Progressive | 0 | ISCA2 CL E G H | 122961 | 616370 | Multiple mitochondrial dysfunctions syndrome 4 | 616370 | C4225348 | OMIM | 1 | | 56 | 19857 | 615317 |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 332 | 6233 | 176258 |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNK3 CL E G H | 3777 | 615344 | Primary pulmonary hypertension 4 | 615344 | C3809198 | OMIM | 1 | | 141 | 6278 | 603220 |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNQ4 CL E G H | 9132 | 600101 | DFNA 2 Nonsyndromic Hearing Loss | 600101 | C2677637 | OMIM | 1 | | 251 | 6298 | 603537 |
HP:0003676 | HP:0003676 | Progressive | 0 | KCNT1 CL E G H | 57582 | 614959 | Early infantile epileptic encephalopathy 14 | 614959 | C3554195 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0003676 | HP:0003676 | Progressive | 0 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 94 | 25705 | 616386 |
HP:0003676 | HP:0003676 | Progressive | 0 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 1 | | 381 | 21957 | 611725 |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF1A CL E G H | 547 | 614213 | Hereditary sensory and autonomic neuropathy type IIC | 614213 | C3280168 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF1A CL E G H | 547 | 614255 | Mental retardation, autosomal dominant 9 | 614255 | C3280283 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 366 | 6317 | 603060 |
HP:0003676 | HP:0003676 | Progressive | 0 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0003676 | HP:0003676 | Progressive | 0 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0003676 | HP:0003676 | Progressive | 0 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 1 | | 610 | 15840 | 606834 |
HP:0003676 | HP:0003676 | Progressive | 0 | LAMB1 CL E G H | 3912 | 615191 | Lissencephaly 5 | 615191 | C3554657 | OMIM | 1 | | 512 | 6486 | 150240 |
HP:0003676 | HP:0003676 | Progressive | 0 | LIMS2 CL E G H | 55679 | 616827 | Muscular dystrophy, limb-girdle, type 2W | 616827 | C4225192 | OMIM | 1 | | 219 | 16084 | 607908 |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNA CL E G H | 4000 | 613205 | Congenital muscular dystrophy, LMNA-related | 613205 | C2750785 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNA CL E G H | 4000 | 616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 616516 | C2750035 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 169 | 6637 | 150340 |
HP:0003676 | HP:0003676 | Progressive | 0 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 466 | 6638 | 150341 |
HP:0003676 | HP:0003676 | Progressive | 0 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 1 | | 1446 | 1742 | 606453 |
HP:0003676 | HP:0003676 | Progressive | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 77 | 28072 | 615831 |
HP:0003676 | HP:0003676 | Progressive | 0 | MAPKBP1 CL E G H | 23005 | 617271 | Nephronophthisis 20 | 617271 | C4310640 | OMIM | 1 | | 133 | 29536 | 616786 |
HP:0003676 | HP:0003676 | Progressive | 0 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0003676 | HP:0003676 | Progressive | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0003676 | HP:0003676 | Progressive | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 85 | 19691 | 608205 |
HP:0003676 | HP:0003676 | Progressive | 0 | MED17 CL E G H | 9440 | 613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | 613668 | C3150921 | OMIM | 1 | | 357 | 2375 | 603810 |
HP:0003676 | HP:0003676 | Progressive | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 117 | 24858 | 614785 |
HP:0003676 | HP:0003676 | Progressive | 0 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 79 | 25897 | 614397 |
HP:0003676 | HP:0003676 | Progressive | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0003676 | HP:0003676 | Progressive | 0 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 438 | 7190 | 603707 |
HP:0003676 | HP:0003676 | Progressive | 0 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 239 | 7193 | 603708 |
HP:0003676 | HP:0003676 | Progressive | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 200 | 7224 | 137960 |
HP:0003676 | HP:0003676 | Progressive | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1729 | 7230 | 600814 |
HP:0003676 | HP:0003676 | Progressive | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 83 | 16618 | 611994 |
HP:0003676 | HP:0003676 | Progressive | 0 | MTAP CL E G H | 4507 | 112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | 112250 | C1862177 | OMIM | 1 | | 239 | 7413 | 156540 |
HP:0003676 | HP:0003676 | Progressive | 0 | MYH14 CL E G H | 79784 | 614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | 614369 | C3280556 | OMIM | 1 | | 857 | 23212 | 608568 |
HP:0003676 | HP:0003676 | Progressive | 0 | MYO1E CL E G H | 4643 | 614131 | Focal segmental glomerulosclerosis 6 | 614131 | C3279905 | OMIM | 1 | | 331 | 7599 | 601479 |
HP:0003676 | HP:0003676 | Progressive | 0 | NAGLU CL E G H | 4669 | 616491 | Charcot-Marie-Tooth disease, axonal type 2V | 616491 | C4225306 | OMIM | 1 | | 775 | 7632 | 609701 |
HP:0003676 | HP:0003676 | Progressive | 0 | NALCN CL E G H | 259232 | 615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 615419 | C3809454 | OMIM | 1 | | 653 | 19082 | 611549 |
HP:0003676 | HP:0003676 | Progressive | 0 | NBEAL2 CL E G H | 23218 | 139090 | Gray platelet syndrome | 139090 | C0272302 | OMIM | 1 | | 353 | 31928 | 614169 |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFA12 CL E G H | 55967 | 618244 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | 618244 | | OMIM | 1 | | 71 | 23987 | 614530 |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 115 | 28086 | 609653 |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFB9 CL E G H | 4715 | 618245 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 | 618245 | | OMIM | 1 | | 118 | 7704 | 601445 |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 332 | 7707 | 157655 |
HP:0003676 | HP:0003676 | Progressive | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 164 | 7714 | 601825 |
HP:0003676 | HP:0003676 | Progressive | 0 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 1 | | 465 | 7737 | 162230 |
HP:0003676 | HP:0003676 | Progressive | 0 | NIPA1 CL E G H | 123606 | 600363 | Spastic paraplegia 6 | 600363 | C1838192 | OMIM | 1 | | 576 | 17043 | 608145 |
HP:0003676 | HP:0003676 | Progressive | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0003676 | HP:0003676 | Progressive | 0 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 42 | 15911 | 614154 |
HP:0003676 | HP:0003676 | Progressive | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 112 | 7981 | 601828 |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP107 CL E G H | 57122 | 616730 | Nephrotic syndrome, type 11 | 616730 | C4225228 | OMIM | 1 | | 149 | 29914 | 607617 |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP133 CL E G H | 55746 | 618177 | NEPHROTIC SYNDROME, TYPE 18 | 618177 | | OMIM | 1 | | 81 | 18016 | 607613 |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP160 CL E G H | 23279 | 618178 | NEPHROTIC SYNDROME, TYPE 19 | 618178 | | OMIM | 1 | | 59 | 18017 | 607614 |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP85 CL E G H | 79902 | 618176 | NEPHROTIC SYNDROME, TYPE 17 | 618176 | | OMIM | 1 | | 54 | 8734 | 170285 |
HP:0003676 | HP:0003676 | Progressive | 0 | NUP93 CL E G H | 9688 | 616892 | Nephrotic syndrome, type 12 | 616892 | C4225166 | OMIM | 1 | | 135 | 28958 | 614351 |
HP:0003676 | HP:0003676 | Progressive | 0 | OPA1 CL E G H | 4976 | 210000 | Abortive cerebellar ataxia | 210000 | C0221061 | OMIM | 1 | | 885 | 8140 | 605290 |
HP:0003676 | HP:0003676 | Progressive | 0 | OPA1 CL E G H | 4976 | 125250 | Autosomal dominant optic atrophy plus syndrome | 125250 | C1852267 | OMIM | 1 | | 885 | 8140 | 605290 |
HP:0003676 | HP:0003676 | Progressive | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0003676 | HP:0003676 | Progressive | 0 | PCLO CL E G H | 27445 | 608027 | Pontocerebellar hypoplasia type 3 | 608027 | C1842687 | OMIM | 1 | | 1566 | 13406 | 604918 |
HP:0003676 | HP:0003676 | Progressive | 0 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 41 | 8729 | 176740 |
HP:0003676 | HP:0003676 | Progressive | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003676 | HP:0003676 | Progressive | 0 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 105 | 8800 | 190040 |
HP:0003676 | HP:0003676 | Progressive | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 345 | 8804 | 173410 |
HP:0003676 | HP:0003676 | Progressive | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 346 | 8857 | 603360 |
HP:0003676 | HP:0003676 | Progressive | 0 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0003676 | HP:0003676 | Progressive | 0 | PIK3R5 CL E G H | 23533 | 615217 | Ataxia-oculomotor apraxia 3 | 615217 | C3554690 | OMIM | 1 | | 48 | 30035 | 611317 |
HP:0003676 | HP:0003676 | Progressive | 0 | PKD2 CL E G H | 5311 | 613095 | Polycystic kidney disease 2 | 613095 | C2751306 | OMIM | 1 | | 651 | 9009 | 173910 |
HP:0003676 | HP:0003676 | Progressive | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0003676 | HP:0003676 | Progressive | 0 | PLCE1 CL E G H | 51196 | 610725 | Nephrotic syndrome, type 3 | 610725 | C1853124 | OMIM | 1 | | 366 | 17175 | 608414 |
HP:0003676 | HP:0003676 | Progressive | 0 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 1 | | 68 | 9119 | 603131 |
HP:0003676 | HP:0003676 | Progressive | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 943 | 16268 | 603197 |
HP:0003676 | HP:0003676 | Progressive | 0 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 90 | 28900 | 612123 |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG CL E G H | 5428 | 613662 | Mitochondrial DNA depletion syndrome 4B, MNGIE type | 613662 | C3150914 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0003676 | HP:0003676 | Progressive | 0 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0003676 | HP:0003676 | Progressive | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 785 | 30074 | 614258 |
HP:0003676 | HP:0003676 | Progressive | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 368 | 30348 | 614366 |
HP:0003676 | HP:0003676 | Progressive | 0 | POMGNT1 CL E G H | 55624 | 613157 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 613157 | C3150417 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0003676 | HP:0003676 | Progressive | 0 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 365 | 13993 | 616639 |
HP:0003676 | HP:0003676 | Progressive | 0 | PRICKLE1 CL E G H | 144165 | 612437 | Progressive myoclonus epilepsy with ataxia | 612437 | C2676254 | OMIM | 1 | | 488 | 17019 | 608500 |
HP:0003676 | HP:0003676 | Progressive | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 163 | 9438 | 603424 |
HP:0003676 | HP:0003676 | Progressive | 0 | PRUNE1 CL E G H | 58497 | 617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 617481 | C4479566 | OMIM | 1 | | 41 | 13420 | 617413 |
HP:0003676 | HP:0003676 | Progressive | 0 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 41 | 24265 | 608625 |
HP:0003676 | HP:0003676 | Progressive | 0 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 115 | 14957 | 607204 |
HP:0003676 | HP:0003676 | Progressive | 0 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 104 | 30262 | 616406 |
HP:0003676 | HP:0003676 | Progressive | 0 | QARS CL E G H | 5859 | 615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 615760 | C4014239 | OMIM | 1 | | | 9751 | 603727 |
HP:0003676 | HP:0003676 | Progressive | 0 | RARS2 CL E G H | 57038 | 611523 | Pontocerebellar hypoplasia type 6 | 611523 | C1969084 | OMIM | 1 | | 513 | 21406 | 611524 |
HP:0003676 | HP:0003676 | Progressive | 0 | RBCK1 CL E G H | 10616 | 615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | 615895 | C4014605 | OMIM | 1 | | 364 | 15864 | 610924 |
HP:0003676 | HP:0003676 | Progressive | 0 | REPS1 CL E G H | 85021 | 617916 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | 617916 | CN895590 | OMIM | 1 | | 80 | 15578 | 614825 |
HP:0003676 | HP:0003676 | Progressive | 0 | RETREG1 CL E G H | 54463 | 613115 | Hereditary sensory and autonomic neuropathy type IIB | 613115 | C2751092 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0003676 | HP:0003676 | Progressive | 0 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 104 | 18466 | 604123 |
HP:0003676 | HP:0003676 | Progressive | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 235 | 24116 | 610330 |
HP:0003676 | HP:0003676 | Progressive | 0 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 293 | 17296 | 604712 |
HP:0003676 | HP:0003676 | Progressive | 0 | RTN2 CL E G H | 6253 | 604805 | Spastic paraplegia 12 | 604805 | C1858106 | OMIM | 1 | | 184 | 10468 | 603183 |
HP:0003676 | HP:0003676 | Progressive | 0 | RUBCN CL E G H | 9711 | 615705 | Spinocerebellar ataxia, autosomal recessive 15 | 615705 | C3810326 | OMIM | 1 | | 118 | 28991 | 613516 |
HP:0003676 | HP:0003676 | Progressive | 0 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 1 | | 1157 | 10542 | 603560 |
HP:0003676 | HP:0003676 | Progressive | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2186 | 10680 | 600857 |
HP:0003676 | HP:0003676 | Progressive | 0 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 138 | 18276 | 609213 |
HP:0003676 | HP:0003676 | Progressive | 0 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 1 | | 1290 | 445 | 608465 |
HP:0003676 | HP:0003676 | Progressive | 0 | SGCA CL E G H | 6442 | 608099 | Limb-girdle muscular dystrophy, type 2D | 608099 | C2936332 | OMIM | 1 | | 537 | 10805 | 600119 |
HP:0003676 | HP:0003676 | Progressive | 0 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 89 | 10817 | 603729 |
HP:0003676 | HP:0003676 | Progressive | 0 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC12A6 CL E G H | 9990 | 218000 | Andermann syndrome | 218000 | C0795950 | OMIM | 1 | | 911 | 10914 | 604878 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 281 | 10947 | 158378 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC33A1 CL E G H | 9197 | 614482 | Congenital cataracts, hearing loss, and neurodegeneration | 614482 | C3280965 | OMIM | 1 | | 145 | 95 | 603690 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC44A4 CL E G H | 80736 | 617606 | DEAFNESS, AUTOSOMAL DOMINANT 72 | 617606 | C4539886 | OMIM | 1 | | 100 | 13941 | 606107 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0003676 | HP:0003676 | Progressive | 0 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 66 | 11071 | 107310 |
HP:0003676 | HP:0003676 | Progressive | 0 | SMAD9 CL E G H | 4093 | 615342 | Primary pulmonary hypertension 2 | 615342 | C3888002 | OMIM | 1 | | 150 | 6774 | 603295 |
HP:0003676 | HP:0003676 | Progressive | 0 | SMN1 CL E G H | 6606 | 253400 | Kugelberg-Welander disease | 253400 | C0152109 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0003676 | HP:0003676 | Progressive | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 177 | 11138 | 163890 |
HP:0003676 | HP:0003676 | Progressive | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 118 | 11139 | 603779 |
HP:0003676 | HP:0003676 | Progressive | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 130 | 32952 | 616663 |
HP:0003676 | HP:0003676 | Progressive | 0 | SOST CL E G H | 50964 | 122860 | Craniodiaphyseal dysplasia, autosomal dominant | 122860 | C2675746 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0003676 | HP:0003676 | Progressive | 0 | SOX18 CL E G H | 54345 | 137940 | Glomerulonephritis with sparse hair and telangiectases | 137940 | C1841989 | OMIM | 1 | | 76 | 11194 | 601618 |
HP:0003676 | HP:0003676 | Progressive | 0 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1014 | 11233 | 604277 |
HP:0003676 | HP:0003676 | Progressive | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003676 | HP:0003676 | Progressive | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0003676 | HP:0003676 | Progressive | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0003676 | HP:0003676 | Progressive | 0 | STIM1 CL E G H | 6786 | 185070 | Stormorken syndrome | 185070 | C1861451 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0003676 | HP:0003676 | Progressive | 0 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 170 | 11427 | 607207 |
HP:0003676 | HP:0003676 | Progressive | 0 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 170 | 11427 | 607207 |
HP:0003676 | HP:0003676 | Progressive | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 355 | 11474 | 185620 |
HP:0003676 | HP:0003676 | Progressive | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 1046 | 11503 | 604297 |
HP:0003676 | HP:0003676 | Progressive | 0 | TBC1D24 CL E G H | 57465 | 220500 | Digitorenocerebral syndrome | 220500 | C1857345 | OMIM | 1 | | 795 | 29203 | 613577 |
HP:0003676 | HP:0003676 | Progressive | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 795 | 29203 | 613577 |
HP:0003676 | HP:0003676 | Progressive | 0 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 357 | 11582 | 604934 |
HP:0003676 | HP:0003676 | Progressive | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 294 | 11584 | 604834 |
HP:0003676 | HP:0003676 | Progressive | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 116 | 11588 | 600075 |
HP:0003676 | HP:0003676 | Progressive | 0 | TFAM CL E G H | 7019 | 617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 617156 | C4310690 | OMIM | 1 | | 58 | 11741 | 600438 |
HP:0003676 | HP:0003676 | Progressive | 0 | TJP2 CL E G H | 9414 | 615878 | Progressive familial intrahepatic cholestasis 4 | 615878 | C2931067 | OMIM | 1 | | 545 | 11828 | 607709 |
HP:0003676 | HP:0003676 | Progressive | 0 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0003676 | HP:0003676 | Progressive | 0 | TNFRSF11A CL E G H | 8792 | 174810 | Familial expansile osteolysis | 174810 | C0432292 | OMIM | 1 | | 420 | 11908 | 603499 |
HP:0003676 | HP:0003676 | Progressive | 0 | TNFRSF11B CL E G H | 4982 | 239000 | Hyperphosphatasemia with bone disease | 239000 | C0268414 | OMIM | 1 | | 168 | 11909 | 602643 |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 106 | 29947 | 608112 |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 114 | 24284 | 614139 |
HP:0003676 | HP:0003676 | Progressive | 0 | TRAPPC6B CL E G H | 122553 | 617862 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY | 617862 | CN787271 | OMIM | 1 | | 55 | 23066 | 610397 |
HP:0003676 | HP:0003676 | Progressive | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 327 | 12269 | 606609 |
HP:0003676 | HP:0003676 | Progressive | 0 | TRPC3 CL E G H | 7222 | 616410 | Spinocerebellar ataxia 41 | 616410 | C4225158 | OMIM | 1 | | 44 | 12335 | 602345 |
HP:0003676 | HP:0003676 | Progressive | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 341 | 12405 | 176300 |
HP:0003676 | HP:0003676 | Progressive | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 219 | 20774 | 602662 |
HP:0003676 | HP:0003676 | Progressive | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003676 | HP:0003676 | Progressive | 0 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0003676 | HP:0003676 | Progressive | 0 | TXN2 CL E G H | 25828 | 616811 | Combined oxidative phosphorylation deficiency 29 | 616811 | C4225200 | OMIM | 1 | | 50 | 17772 | 609063 |
HP:0003676 | HP:0003676 | Progressive | 0 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 803 | 3148 | 131222 |
HP:0003676 | HP:0003676 | Progressive | 0 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 157 | 23230 | 610552 |
HP:0003676 | HP:0003676 | Progressive | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 223 | 12509 | 300264 |
HP:0003676 | HP:0003676 | Progressive | 0 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 111 | 12513 | 191342 |
HP:0003676 | HP:0003676 | Progressive | 0 | UMOD CL E G H | 7369 | 162000 | Familial juvenile gout | 162000 | C0268113 | OMIM | 1 | | 265 | 12559 | 191845 |
HP:0003676 | HP:0003676 | Progressive | 0 | VAC14 CL E G H | 55697 | 617054 | Striatonigral degeneration, childhood-onset | 617054 | C4310743 | OMIM | 1 | | 220 | 25507 | 604632 |
HP:0003676 | HP:0003676 | Progressive | 0 | VARS CL E G H | 7407 | 617802 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY | 617802 | C4540493 | OMIM | 1 | | | 12651 | 192150 |
HP:0003676 | HP:0003676 | Progressive | 0 | VCP CL E G H | 7415 | 616687 | Charcot-Marie-Tooth disease, axonal, type 2y | 616687 | C4225244 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0003676 | HP:0003676 | Progressive | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0003676 | HP:0003676 | Progressive | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 521 | 23594 | 608879 |
HP:0003676 | HP:0003676 | Progressive | 0 | VPS53 CL E G H | 55275 | 615851 | Pontocerebellar hypoplasia, type 2e | 615851 | C4014488 | OMIM | 1 | | 315 | 25608 | 615850 |
HP:0003676 | HP:0003676 | Progressive | 0 | VRK1 CL E G H | 7443 | 607596 | Pontocerebellar hypoplasia type 1A | 607596 | CN032785 | OMIM | 1 | | 385 | 12718 | 602168 |
HP:0003676 | HP:0003676 | Progressive | 0 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0003676 | HP:0003676 | Progressive | 0 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 61 | 25072 | 609226 |
HP:0003676 | HP:0003676 | Progressive | 0 | WT1 CL E G H | 7490 | 256370 | Diffuse mesangial sclerosis | 256370 | C0268747 | OMIM | 1 | | 1146 | 12796 | 607102 |
HP:0003676 | HP:0003676 | Progressive | 0 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 167 | 12827 | 605237 |
HP:0003676 | HP:0003676 | Progressive | 0 | XRCC1 CL E G H | 7515 | 617633 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | 617633 | C4539948 | OMIM | 1 | | 52 | 12828 | 194360 |
HP:0003676 | HP:0003676 | Progressive | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 156 | 24249 | 610957 |
HP:0003676 | HP:0003676 | Progressive | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HPO disease - gene - phenotype less frequent non-typical associations: |