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:0005324 | HP:0005324 | Disturbance of facial expression | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | | | | 227 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | | | | 115 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | | | | 33 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 99 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 528 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 302 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | LRIG2 CL E G H | 9860 | 20889 | OMIM:615112 | Urofacial syndrome 2 | | | | 5 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300496 | Autism susceptibility, X-linked 3 | . | | | 950 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 12 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 4 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | | | | 6 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PNKD CL E G H | 25953 | 9153 | OMIM:118800 | Paroxysmal nonkinesigenic dyskinesia 1 | | | | 66 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | | | | 60 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | | | | 60 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0005324 | HP:0005324 | Disturbance of facial expression | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:141291 | Cleft lip and alveolus | HP:0040282 - Frequent | | | 140 | | |
HP:0005324 | HP:0040212 | Risus sardonicus | 1 | CL E G H | | | | | | | | | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 227 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040281 - Very frequent | | | 291 | | |
HP:0005324 | HP:0005335 | Sleepy facial expression | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 167 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040281 - Very frequent | | | 250 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040283 - Occasional | | | 528 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040283 - Occasional | | | 302 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | LRIG2 CL E G H | 9860 | 20889 | OMIM:615112 | Urofacial syndrome 2 | | | | 5 | | |
HP:0005324 | HP:0005335 | Sleepy facial expression | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 7 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 6 | | |
HP:0005324 | HP:0005335 | Sleepy facial expression | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040282 - Frequent | | | 79 | | |
HP:0005324 | HP:0000273 | Facial grimacing | 1 | PNKD CL E G H | 25953 | 9153 | OMIM:118800 | Paroxysmal nonkinesigenic dyskinesia 1 | . | | | 66 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | . | | | 60 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0005324 | HP:0011468 | Facial tics | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |