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:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0031857 | HP:0031857 | Ineffective esophageal peristalsis | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | . | HP:0011463 - Childhood onset | | 111 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | . | | | 24 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | . | | | | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | | | | 7 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040283 - Occasional | | | 27 | | |
HP:0031857 | HP:0002571 | Achalasia | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 27 | | |