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:0003677 | HP:0003677 | Slowly progressive | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ACTN4 CL E G H | 81 | 603278 | Focal segmental glomerulosclerosis 1 | 603278 | C0333497 | OMIM | 1 | | 235 | 166 | 604638 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ALG14 CL E G H | 199857 | 616227 | Myasthenic syndrome, congenital, 15 | 616227 | C4015596 | OMIM | 1 | | 104 | 28287 | 612866 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ALG2 CL E G H | 85365 | 616228 | Myasthenic syndrome, congenital, 14 | 616228 | C4015597 | OMIM | 1 | | 262 | 23159 | 607905 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ALS2 CL E G H | 57679 | 205100 | Amyotrophic lateral sclerosis type 2 | 205100 | C1859807 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ALS2 CL E G H | 57679 | 606353 | Juvenile primary lateral sclerosis | 606353 | C1853396 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 300 | 572 | 607245 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 556 | 644 | 313700 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ATP1A1 CL E G H | 476 | 618036 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 618036 | CN248781 | OMIM | 1 | | 272 | 799 | 182310 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ATP6AP2 CL E G H | 10159 | 300911 | Parkinsonism with spasticity, X-linked | 300911 | C3806722 | OMIM | 1 | | 303 | 18305 | 300556 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CCDC88C CL E G H | 440193 | 616053 | Spinocerebellar ataxia 40 | 616053 | CN252333 | OMIM | 1 | | 279 | 19967 | 611204 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 147 | 1875 | 601443 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CLCN5 CL E G H | 1184 | 308990 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 308990 | C1839874 | OMIM | 1 | | 435 | 2023 | 300008 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | COL6A1 CL E G H | 1291 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | COL6A2 CL E G H | 1292 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | COL6A3 CL E G H | 1293 | 158810 | Bethlem myopathy 1 | 158810 | CN029274 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CPT1C CL E G H | 126129 | 616282 | Spastic paraplegia 73, autosomal dominant | 616282 | C4225387 | OMIM | 1 | | 133 | 18540 | 608846 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CRYAB CL E G H | 1410 | 608810 | Alpha-B crystallinopathy | 608810 | C1837317 | OMIM | 1 | | 230 | 2389 | 123590 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 66 | 25613 | 616120 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 82 | 2661 | 603448 |
HP:0003677 | HP:0003677 | Slowly progressive | 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:0003677 | HP:0003677 | Slowly progressive | 0 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DDHD1 CL E G H | 80821 | 609340 | Spastic paraplegia 28, autosomal recessive | 609340 | C1836295 | OMIM | 1 | | 302 | 19714 | 614603 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 253 | 5228 | 604139 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DNAJB6 CL E G H | 10049 | 603511 | Limb-girdle muscular dystrophy, type 1E | 603511 | C3148763 | OMIM | 1 | | 411 | 14888 | 611332 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DNM1L CL E G H | 10059 | 610708 | Optic atrophy 5 | 610708 | C1853139 | OMIM | 1 | | 445 | 2973 | 603850 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DPAGT1 CL E G H | 1798 | 614750 | Congenital myasthenic syndrome 13 | 614750 | C3553645 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DYNC1H1 CL E G H | 1778 | 158600 | Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 158600 | C1834690 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DYSF CL E G H | 8291 | 253601 | Limb-girdle muscular dystrophy, type 2B | 253601 | C1850889 | OMIM | 1 | | 2736 | 3097 | 603009 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | DZIP1L CL E G H | 199221 | 617610 | POLYCYSTIC KIDNEY DISEASE 5 | 617610 | C4539903 | OMIM | 1 | | 90 | 26551 | 617570 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 204 | 3214 | 130610 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 63 | 21308 | 611805 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | EMD CL E G H | 2010 | 310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | 310300 | C0751337 | OMIM | 1 | | 618 | 3331 | 300384 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FARS2 CL E G H | 10667 | 617046 | Spastic paraplegia 77, autosomal recessive | 617046 | C4310750 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 188 | 3596 | 604269 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 461 | 28844 | 608533 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 191 | 13586 | 605648 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 1 | | 208 | 3671 | 601515 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FLNC CL E G H | 2318 | 609524 | Myofibrillar myopathy, filamin C-related | 609524 | C1836050 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FLNC CL E G H | 2318 | 614065 | Myopathy, distal, 4 | 614065 | C3279722 | OMIM | 1 | | 3455 | 3756 | 102565 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 448 | 24682 | 609144 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FN1 CL E G H | 2335 | 601894 | Glomerulopathy with fibronectin deposits 2 | 601894 | C1866075 | OMIM | 1 | | 759 | 3778 | 135600 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | FZD4 CL E G H | 8322 | 133780 | Exudative vitreoretinopathy 1 | 133780 | C1851402 | OMIM | 1 | | 360 | 4042 | 604579 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 1 | | | 4162 | 600287 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 216 | 4593 | 604473 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 216 | 4593 | 604473 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | GYG1 CL E G H | 2992 | 616199 | Polyglucosan body myopathy 2 | 616199 | C4015452 | OMIM | 1 | | 195 | 4699 | 603942 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 247 | 26361 | 611642 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | HNRNPDL CL E G H | 9987 | 609115 | Limb-girdle muscular dystrophy, type 1G | 609115 | C1836765 | OMIM | 1 | | 248 | 5037 | 607137 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | HPCA CL E G H | 3208 | 224500 | Dystonia 2, torsion, autosomal recessive | 224500 | C1857093 | OMIM | 1 | | 31 | 5144 | 142622 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | HSPB1 CL E G H | 3315 | 608634 | Distal hereditary motor neuronopathy type 2B | 608634 | C2608087 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | HSPB3 CL E G H | 8988 | 613376 | Distal hereditary motor neuronopathy type 2C | 613376 | C3150619 | OMIM | 1 | | 67 | 5248 | 604624 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | IBA57 CL E G H | 200205 | 616451 | Spastic paraplegia 74, autosomal recessive | 616451 | C4225322 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | IGHMBP2 CL E G H | 3508 | 616155 | Charcot-Marie-Tooth disease, axonal, type 2S | 616155 | C4015349 | OMIM | 1 | | 996 | 5542 | 600502 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ISPD CL E G H | 729920 | 616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 | 616052 | C4015095 | OMIM | 1 | | 647 | 37276 | 614631 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KBTBD13 CL E G H | 390594 | 609273 | Nemaline myopathy 6 | 609273 | C1836472 | OMIM | 1 | | 431 | 37227 | 613727 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 216 | 6235 | 176264 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 399 | 6239 | 605411 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KIF1A CL E G H | 547 | 610357 | Spastic paraplegia 30, autosomal recessive | 610357 | C1835896 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | LMNA CL E G H | 4000 | 181350 | Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 181350 | C0410190 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | LRP5 CL E G H | 4041 | 133780 | Exudative vitreoretinopathy 1 | 133780 | C1851402 | OMIM | 1 | | 1354 | 6697 | 603506 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MAP3K20 CL E G H | 51776 | 617760 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | 617760 | C4540345 | OMIM | 1 | | 243 | 17797 | 609479 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MARS CL E G H | 4141 | 616280 | Charcot-Marie-Tooth disease, axonal, type 2u | 616280 | C4084821 | OMIM | 1 | | | 6898 | 156560 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MCM2 CL E G H | 4171 | 616968 | Deafness, autosomal dominant 70 | 616968 | C4310775 | OMIM | 1 | | 145 | 6944 | 116945 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MCM3AP CL E G H | 8888 | 618124 | PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | 618124 | CN253838 | OMIM | 1 | | 721 | 6946 | 603294 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MME CL E G H | 4311 | 617017 | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | C4015635 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MTPAP CL E G H | 55149 | 613672 | Ataxia, spastic, 4, autosomal recessive | 613672 | C3150925 | OMIM | 1 | | 199 | 25532 | 613669 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYH7 CL E G H | 4625 | 255160 | Myopathy, myosin storage, autosomal recessive | 255160 | C1850709 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYH7 CL E G H | 4625 | 608358 | Myosin storage myopathy | 608358 | C1842160 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYH7 CL E G H | 4625 | 181430 | Scapuloperoneal myopathy, MYH7-related | 181430 | CN074265 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYOT CL E G H | 9499 | 609200 | Myotilinopathy | 609200 | C1836607 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYOT CL E G H | 9499 | 182920 | Spheroid body myopathy | 182920 | C1866785 | OMIM | 1 | | 295 | 12399 | 604103 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 1 | | 1263 | 23246 | 608517 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 21 | 17194 | 609435 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | NLRP3 CL E G H | 114548 | 617772 | DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | 617772 | C4521680 | OMIM | 1 | | 752 | 16400 | 606416 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 43 | 7869 | 605235 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | ORAI1 CL E G H | 84876 | 615883 | Myopathy, tubular aggregate, 2 | 615883 | C4014557 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 371 | 15894 | 606157 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PARK7 CL E G H | 11315 | 606324 | Parkinson disease 7 | 606324 | C1853445 | OMIM | 1 | | 160 | 16369 | 602533 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 179 | 8794 | 603390 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PDK3 CL E G H | 5165 | 300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | 300905 | C3806702 | OMIM | 1 | | 294 | 8811 | 300906 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 167 | 8820 | 131340 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 654 | 8851 | 602859 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 366 | 9717 | 170993 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 301 | 14581 | 608309 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 22 | 17158 | 615698 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PMP2 CL E G H | 5375 | 618279 | 618279 | 618279 | | OMIM | 1 | | 96 | 9117 | 170715 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 443 | 30802 | 609059 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | POGLUT1 CL E G H | 56983 | 617232 | Muscular dystrophy, limb-girdle, type 2z | 617232 | C4310660 | OMIM | 1 | | 111 | 22954 | 615618 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | POMT1 CL E G H | 10585 | 609308 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 609308 | C1836373 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 290 | 9402 | 176980 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | REEP2 CL E G H | 51308 | 615625 | Spastic paraplegia 72, autosomal recessive | 615625 | C3810160 | OMIM | 1 | | 76 | 17975 | 609347 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 1 | | 148 | 21686 | 612944 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | RYR1 CL E G H | 6261 | 117000 | 117000 | 117000 | | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SCN9A CL E G H | 6335 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1290 | 445 | 608465 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SIGMAR1 CL E G H | 10280 | 614373 | Amyotrophic lateral sclerosis 16, juvenile | 614373 | C3280587 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SLC34A2 CL E G H | 10568 | 265100 | PULMONARY ALVEOLAR MICROLITHIASIS | 265100 | C0155912 | OMIM | 1 | | 82 | 11020 | 604217 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SMN1 CL E G H | 6606 | 271150 | Spinal muscular atrophy type 4 | 271150 | C1838230 | OMIM | 1 | | 208 | 11117 | 600354 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SPG11 CL E G H | 80208 | 616668 | Charcot-Marie-Tooth disease, axonal type 2X | 616668 | C4225253 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 145 | 20373 | 608181 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | STIM1 CL E G H | 6786 | 160565 | Myopathy with tubular aggregates | 160565 | C0410207 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SURF1 CL E G H | 6834 | 616684 | Charcot-Marie-Tooth disease, type 4k | 616684 | C4225246 | OMIM | 1 | | 355 | 11474 | 185620 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4598 | 17089 | 608441 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | SYT14 CL E G H | 255928 | 614229 | Spinocerebellar ataxia, autosomal recessive 11 | 614229 | C3280226 | OMIM | 1 | | 92 | 23143 | 610949 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TBC1D24 CL E G H | 57465 | 616044 | Deafness, autosomal dominant 65 | 616044 | C3892048 | OMIM | 1 | | 795 | 29203 | 613577 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TEAD1 CL E G H | 7003 | 108985 | Sveinsson chorioretinal atrophy | 108985 | C1862382 | OMIM | 1 | | 133 | 11714 | 189967 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TENM4 CL E G H | 26011 | 616736 | Tremor, hereditary essential, 5 | 616736 | C4225223 | OMIM | 1 | | 100 | 29945 | 610084 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 307 | 11758 | 602498 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TGM6 CL E G H | 343641 | 613908 | Spinocerebellar ataxia 35 | 613908 | C3888031 | OMIM | 1 | | 289 | 16255 | 613900 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TIA1 CL E G H | 7072 | 604454 | Welander distal myopathy | 604454 | C0221054 | OMIM | 1 | | 190 | 11802 | 603518 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TMEM43 CL E G H | 79188 | 614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 614302 | C3553060 | OMIM | 1 | | 740 | 28472 | 612048 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TOR1AIP1 CL E G H | 26092 | 617072 | Muscular dystrophy, limb-girdle, type 2y | 617072 | C4310731 | OMIM | 1 | | 332 | 29456 | 614512 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 849 | 2073 | 607998 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | TTN CL E G H | 7273 | 600334 | Distal myopathy Markesbery-Griggs type | 600334 | C1838244 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | VMA21 CL E G H | 203547 | 310440 | Myopathy, X-linked, with excessive autophagy | 310440 | C1839615 | OMIM | 1 | | 239 | 22082 | 300913 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | VWA3B CL E G H | 200403 | 616948 | Spinocerebellar ataxia, autosomal recessive 22 | 616948 | C4310781 | OMIM | 1 | | 63 | 28385 | 614884 |
HP:0003677 | HP:0003677 | Slowly progressive | 0 | WNK1 CL E G H | 65125 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1448 | 14540 | 605232 |
HPO disease - gene - phenotype less frequent non-typical associations: |