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:0009777 | HP:0009777 | Absent thumb | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:619239 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS | | | | 92 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:615272 | Fanconi anemia, complementation group Q | . | | | 158 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | HP:0040283 - Occasional | | | 53 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:266280 | Rapadilino syndrome | . | | | 445 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | . | | | | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | HP:0040283 - Occasional | | | 274 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0009777 | HP:0009777 | Absent thumb | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |