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:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | EFTUD2 CL E G H | 9343 | 30858 | ORPHA:79113 | Mandibulofacial dysostosis-microcephaly syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | GLI1 CL E G H | 2735 | 4317 | OMIM:174400 | Polydactyly, preaxial I | . | | | 1 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | HP:0040283 - Occasional | | | 23 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | . | | | 22 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:1553 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0001177 | HP:0001177 | Preaxial hand polydactyly | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |