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:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040283 - Occasional | | | 304 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040283 - Occasional | | | 323 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | 3 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 442 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 478 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 702 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | | | | 20 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | PRG4 CL E G H | 10216 | 9364 | OMIM:208250 | Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome | . | | | 6 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0001239 | HP:0001239 | Wrist flexion contracture | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | HP:0040283 - Occasional | | | 64 | | |
HP:0001239 | HP:0012453 | Bilateral wrist flexion contracture | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0001239 | HP:0012453 | Bilateral wrist flexion contracture | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040281 - Very frequent | | | 18 | | |
HP:0001239 | HP:0012454 | Unilateral wrist flexion contracture | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |