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:0100033 | HP:0100033 | Tics | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0100033 | HP:0100033 | Tics | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0100033 | HP:0100033 | Tics | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | | | | 146 | | |
HP:0100033 | HP:0100033 | Tics | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0100033 | HP:0100033 | Tics | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0100033 | HP:0100033 | Tics | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | HP:0040283 - Occasional | | | 33 | | |
HP:0100033 | HP:0100033 | Tics | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0100033 | HP:0100033 | Tics | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0100033 | HP:0100033 | Tics | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0100033 | HP:0100033 | Tics | 0 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | | | | 1 | | |
HP:0100033 | HP:0100033 | Tics | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0100033 | HP:0100033 | Tics | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0100033 | HP:0100033 | Tics | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100033 | HP:0100033 | Tics | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0100033 | HP:0100033 | Tics | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | | | | 9 | | |
HP:0100033 | HP:0100033 | Tics | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0100033 | HP:0100033 | Tics | 0 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | | | | 34 | | |
HP:0100033 | HP:0100033 | Tics | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0100033 | HP:0100033 | Tics | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | | | | 58 | | |
HP:0100033 | HP:0100033 | Tics | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0100033 | HP:0100033 | Tics | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0100033 | HP:0100033 | Tics | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0100033 | HP:0100033 | Tics | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0100033 | HP:0100033 | Tics | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | | | | 146 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0100033 | HP:0100035 | Phonic tics | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0100033 | HP:0100035 | Phonic tics | 1 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0100033 | HP:0100035 | Phonic tics | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | . | | | 34 | | |
HP:0100033 | HP:0100035 | Phonic tics | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0100033 | HP:0100034 | Motor tics | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0100033 | HP:0100035 | Phonic tics | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |