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:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93321 | Radial hemimelia | | | | 106 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93321 | Radial hemimelia | | | | 67 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010242 | HP:0010242 | Aplasia of the proximal phalanges of the hand | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0010242 | HP:0009458 | Aplasia of the proximal phalanx of the 3rd finger | 1 | CL E G H | | | | | | | | | | |
HP:0010242 | HP:0009298 | Aplasia of the proximal phalanx of the 4th finger | 1 | CL E G H | | | | | | | | | | |
HP:0010242 | HP:0009225 | Aplasia of the proximal phalanx of the 5th finger | 1 | CL E G H | | | | | | | | | | |
HP:0010242 | HP:0009596 | Aplasia of the proximal phalanx of the 2nd finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93321 | Radial hemimelia | HP:0040281 - Very frequent | | | 106 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93321 | Radial hemimelia | HP:0040281 - Very frequent | | | 67 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0010242 | HP:0010035 | Aplasia of the 1st metacarpal | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |