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:0010489 | HP:0010489 | Absent palmar crease | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0010489 | HP:0010489 | Absent palmar crease | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |