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:0002970 | HP:0002970 | Genu varum | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040282 - Frequent | | | 79 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 284 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | HP:0040284 - Very rare | | | 284 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | . | | | 110 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 137 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040284 - Very rare | | | 89 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | . | | | 151 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | . | | | 145 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 9 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | HP:0040284 - Very rare | | | 9 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | HP:0040282 - Frequent | | | 44 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040282 - Frequent | | | 32 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:93356 | Spondyloepimetaphyseal dysplasia, Missouri type | HP:0040282 - Frequent | | | 52 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | MMP9 CL E G H | 4318 | 7176 | OMIM:613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | | | | 31 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | . | | | 37 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | . | | | 2 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040282 - Frequent | | | 104 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0002970 | HP:0002970 | Genu varum | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | . | | | 14 | | |
HP:0002970 | HP:0100531 | Wind-swept deformity of the knees | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040282 - Frequent | | | 89 | | |