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:0200021 | HP:0200021 | Down-sloping shoulders | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | . | | | 135 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0200021 | HP:0200021 | Down-sloping shoulders | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |