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:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040282 - Frequent | | | | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 64 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0004602 | HP:0004602 | Cervical C2/C3 vertebral fusion | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |