Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040284 - Very rare | | | 600 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040283 - Occasional | | | 197 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040281 - Very frequent | | | | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040282 - Frequent | | | 11 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | . | | | 13 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040281 - Very frequent | | | 18 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040283 - Occasional | | | 82 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 62 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 5 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040284 - Very rare | | | 7128 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0008959 | HP:0008959 | Distal upper limb muscle weakness | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |