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:0002380 | HP:0002380 | Fasciculations | 0 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 260 | 9137 | 606180 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 580 | 28844 | 608533 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HINT1 CL E G H | 3094 | 137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CN074193 | OMIM | 1 | | 139 | 4912 | 601314 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 726 | 23573 | 616661 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1765 | 10591 | 603967 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SOD1 CL E G H | 6647 | 105400 | Amyotrophic lateral sclerosis type 1 | 105400 | C1862939 | OMIM | 1 | | 294 | 11179 | 147450 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 163 | 12513 | 191342 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VAPB CL E G H | 9217 | 182980 | Adult proximal spinal muscular atrophy, autosomal dominant | 182980 | C1866777 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VRK1 CL E G H | 7443 | 607596 | Pontocerebellar hypoplasia type 1A | 607596 | CN032785 | OMIM | 1 | | 461 | 12718 | 602168 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 260 | 9137 | 606180 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 260 | 9137 | 606180 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 260 | 9137 | 606180 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 580 | 28844 | 608533 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 580 | 28844 | 608533 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 580 | 28844 | 608533 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HINT1 CL E G H | 3094 | 137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CN074193 | OMIM | 1 | | 139 | 4912 | 601314 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | HINT1 CL E G H | 3094 | 137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CN074193 | OMIM | 1 | | 139 | 4912 | 601314 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | HINT1 CL E G H | 3094 | 137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CN074193 | OMIM | 1 | | 139 | 4912 | 601314 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 726 | 23573 | 616661 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 726 | 23573 | 616661 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 726 | 23573 | 616661 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1765 | 10591 | 603967 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1765 | 10591 | 603967 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1765 | 10591 | 603967 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SOD1 CL E G H | 6647 | 105400 | Amyotrophic lateral sclerosis type 1 | 105400 | C1862939 | OMIM | 1 | | 294 | 11179 | 147450 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SOD1 CL E G H | 6647 | 105400 | Amyotrophic lateral sclerosis type 1 | 105400 | C1862939 | OMIM | 1 | | 294 | 11179 | 147450 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SOD1 CL E G H | 6647 | 105400 | Amyotrophic lateral sclerosis type 1 | 105400 | C1862939 | OMIM | 1 | | 294 | 11179 | 147450 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 163 | 12513 | 191342 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 163 | 12513 | 191342 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 163 | 12513 | 191342 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VAPB CL E G H | 9217 | 182980 | Adult proximal spinal muscular atrophy, autosomal dominant | 182980 | C1866777 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VAPB CL E G H | 9217 | 182980 | Adult proximal spinal muscular atrophy, autosomal dominant | 182980 | C1866777 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VAPB CL E G H | 9217 | 182980 | Adult proximal spinal muscular atrophy, autosomal dominant | 182980 | C1866777 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VRK1 CL E G H | 7443 | 607596 | Pontocerebellar hypoplasia type 1A | 607596 | CN032785 | OMIM | 1 | | 461 | 12718 | 602168 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VRK1 CL E G H | 7443 | 607596 | Pontocerebellar hypoplasia type 1A | 607596 | CN032785 | OMIM | 1 | | 461 | 12718 | 602168 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VRK1 CL E G H | 7443 | 607596 | Pontocerebellar hypoplasia type 1A | 607596 | CN032785 | OMIM | 1 | | 461 | 12718 | 602168 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | AIFM1 CL E G H | 9131 | 300816 | Combined oxidative phosphorylation deficiency 6 | 300816 | C3151753 | OMIM | 1 | | 575 | 8768 | 300169 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 270 | 25519 | 613726 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | AR CL E G H | 367 | 313200 | Bulbo-spinal atrophy X-linked | 313200 | C1839259 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CHMP2B CL E G H | 25978 | 614696 | Amyotrophic lateral sclerosis 17 | 614696 | C1836076 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | EXOSC9 CL E G H | 5393 | 618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | 618065 | CN252648 | OMIM | 1 | | 260 | 9137 | 606180 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 1 | | 580 | 28844 | 608533 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | HINT1 CL E G H | 3094 | 137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CN074193 | OMIM | 1 | | 139 | 4912 | 601314 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 366 | 5246 | 602195 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 579 | 6317 | 603060 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 792 | 25135 | 610933 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 726 | 23573 | 616661 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | PFN1 CL E G H | 5216 | 614808 | Amyotrophic lateral sclerosis 18 | 614808 | C3553719 | OMIM | 1 | | 101 | 8881 | 176610 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | PNPLA2 CL E G H | 57104 | 98908 | | | | ORPHA | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | PNPLA2 CL E G H | 57104 | 610717 | Neutral lipid storage disease with myopathy | 610717 | C1853136 | OMIM | 1 | | 566 | 30802 | 609059 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1765 | 10591 | 603967 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SCO2 CL E G H | 9997 | 521411 | | | | ORPHA | 1 | | 701 | 10604 | 604272 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SOD1 CL E G H | 6647 | 105400 | Amyotrophic lateral sclerosis type 1 | 105400 | C1862939 | OMIM | 1 | | 294 | 11179 | 147450 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SPG11 CL E G H | 80208 | 602099 | Amyotrophic lateral sclerosis type 5 | 602099 | C1865864 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SQSTM1 CL E G H | 8878 | 616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 | C4225326 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | TBK1 CL E G H | 29110 | 616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 616439 | C4225325 | OMIM | 1 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 373 | 11758 | 602498 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 163 | 12513 | 191342 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VAPB CL E G H | 9217 | 182980 | Adult proximal spinal muscular atrophy, autosomal dominant | 182980 | C1866777 | OMIM | 1 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VCP CL E G H | 7415 | 613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 613954 | C3151403 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VRK1 CL E G H | 7443 | 607596 | Pontocerebellar hypoplasia type 1A | 607596 | CN032785 | OMIM | 1 | | 461 | 12718 | 602168 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 0 | | 120 | 10548 | 601556 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 0 | | 740 | 17208 | 609797 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CEP126 CL E G H | 57562 | 65684 | | | | ORPHA | 0 | | 79 | 29264 | 614634 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 0 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | CPLANE1 CL E G H | 65250 | 65684 | | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 0 | | 297 | 14415 | 605512 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 0 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | RYR1 CL E G H | 6261 | 324581 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 0 | | 309 | 11571 | 605078 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 0 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0002380 | Fasciculations | 0 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 0 | | 120 | 10548 | 601556 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 0 | | 120 | 10548 | 601556 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 0 | | 120 | 10548 | 601556 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 0 | | 740 | 17208 | 609797 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 0 | | 740 | 17208 | 609797 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 0 | | 740 | 17208 | 609797 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | CEP126 CL E G H | 57562 | 65684 | | | | ORPHA | 0 | | 79 | 29264 | 614634 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | CEP126 CL E G H | 57562 | 65684 | | | | ORPHA | 0 | | 79 | 29264 | 614634 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CEP126 CL E G H | 57562 | 65684 | | | | ORPHA | 0 | | 79 | 29264 | 614634 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 0 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 0 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 0 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | CPLANE1 CL E G H | 65250 | 65684 | | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | CPLANE1 CL E G H | 65250 | 65684 | | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | CPLANE1 CL E G H | 65250 | 65684 | | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 0 | | 297 | 14415 | 605512 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 0 | | 297 | 14415 | 605512 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 0 | | 297 | 14415 | 605512 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 0 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 0 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 0 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | RYR1 CL E G H | 6261 | 324581 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | RYR1 CL E G H | 6261 | 324581 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | RYR1 CL E G H | 6261 | 324581 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 0 | | 309 | 11571 | 605078 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 0 | | 309 | 11571 | 605078 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 0 | | 309 | 11571 | 605078 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 0 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 0 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 0 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0007089 | Facial-lingual fasciculations | 1 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 0 | | 120 | 10548 | 601556 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 0 | | 65 | 7106 | 607047 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | BICD2 CL E G H | 23299 | 615290 | Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant | 615290 | C3809049 | OMIM | 0 | | 740 | 17208 | 609797 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | C9orf72 CL E G H | 203228 | 275872 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | C9orf72 CL E G H | 203228 | 275864 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CEP126 CL E G H | 57562 | 65684 | | | | ORPHA | 0 | | 79 | 29264 | 614634 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CHCHD10 CL E G H | 400916 | 275872 | | | | ORPHA | 0 | | 297 | 15559 | 615903 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CHMP2B CL E G H | 25978 | 275864 | | | | ORPHA | 0 | | 160 | 24537 | 609512 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | CPLANE1 CL E G H | 65250 | 65684 | | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 0 | | 297 | 14415 | 605512 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | FUS CL E G H | 2521 | 275872 | | | | ORPHA | 0 | | 474 | 4010 | 137070 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | GRN CL E G H | 2896 | 275864 | | | | ORPHA | 0 | | 594 | 4601 | 138945 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | HNRNPA1 CL E G H | 3178 | 52430 | | | | ORPHA | 0 | | 80 | 5031 | 164017 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | HNRNPA2B1 CL E G H | 3181 | 52430 | | | | ORPHA | 0 | | 295 | 5033 | 600124 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | MAPT CL E G H | 4137 | 275864 | | | | ORPHA | 0 | | 581 | 6893 | 157140 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | PSEN1 CL E G H | 5663 | 275864 | | | | ORPHA | 0 | | 501 | 9508 | 104311 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | RYR1 CL E G H | 6261 | 324581 | | | | ORPHA | 0 | | 6164 | 10483 | 180901 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SQSTM1 CL E G H | 8878 | 275864 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | SQSTM1 CL E G H | 8878 | 275872 | | | | ORPHA | 0 | | 677 | 11280 | 601530 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | TARDBP CL E G H | 23435 | 275872 | | | | ORPHA | 0 | | 309 | 11571 | 605078 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | TBK1 CL E G H | 29110 | 275872 | | | | ORPHA | 0 | | 382 | 11584 | 604834 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | TMEM106B CL E G H | 54664 | 275864 | | | | ORPHA | 0 | | 128 | 22407 | 613413 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | TREM2 CL E G H | 54209 | 275864 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VAPB CL E G H | 9217 | 608627 | Amyotrophic lateral sclerosis type 8 | 608627 | C1837728 | OMIM | 0 | | 359 | 12649 | 605704 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VCP CL E G H | 7415 | 52430 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VCP CL E G H | 7415 | 275864 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |
HP:0002380 | HP:0032507 | Labiomental fasciculations | 2 | VCP CL E G H | 7415 | 275872 | | | | ORPHA | 0 | | 607 | 12666 | 601023 |