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:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | CLCF1 CL E G H | 23529 | 17412 | OMIM:610313 | Cold-Induced sweating syndrome 2 | . | | | 6 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | | 51 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | . | | | 5 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | | | | 55 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | | | | 20 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | | | | 6 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | . | | | 90 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | . | | | 120 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0002944 | HP:0002944 | Thoracolumbar scoliosis | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | AP1G1 CL E G H | 164 | 555 | OMIM:619548 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR | | | | | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040282 - Frequent | | | | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002944 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0002944 | HP:0004626 | Lumbar scoliosis | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0002944 | HP:0004619 | Lumbar kyphoscoliosis | 2 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0002944 | HP:0004619 | Lumbar kyphoscoliosis | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |