OMIM предоставляет доступ к своим ресурсам через API omim api help

Токен предоставляется по запросу, предлагаю для экспериментов мой

    You can access the API using the following information :

    API Key : 7DD5E7F80D3F9CCA27F47B4D92A93C1F561DE2EE

    The API key will be activated within TWO hours, trying to use it before then will result in a error. It is for your own use, we ask that you do not share it with others.

    Two API hosts are available, one is located in the United States: API Server : api.omim.org API Web Interface : http://api.omim.org/api/html/apiKey.html

    And one is located in Europe: API Server : api.europe.omim.org API Web Interface : http://api.europe.omim.org/api/html/apiKey.html

    You should use the API host located closest to you.

    API Documentation : http://omim.org/help/api

    Note that the API key has to be included with every request to the API otherwise access will be denied.

    In addition the API key will expire after one year, and we will be emailing you once a week starting a month before its expiration to remind you to create a new one.

    If you have any issues, you can contact us by simply replying to this message.

    If that does not work, you can always contact us via our contact form at http://omim.org/contact

Пока что наиболее простым шагом кажется поиск в базе GeneMap по различным фенотипам Допустим мы ищем гипотрихоз Запрос:

http://api.europe.omim.org/api/geneMap/search?search=hypotrichosis&filter=&fields=&retrieve=&start=0&limit=1&sort=&operator=&format=json

Выдача:

{"omim": { "version": "1.0", "searchResponse": { "search": "hypotrichosis", "expandedSearch": "hypotrichosis", "parsedSearch": "+(text:hypotrichosi)", "searchSuggestion": null, "searchSpelling": "hypotrichosi", "filter": "", "expandedFilter": null, "fields": "", "searchReport": null, "totalResults": 19, "startIndex": 0, "endIndex": 0, "sort": "", "operator": "", "searchTime": 6.0, "geneMapList": [ {"geneMap": { "sequenceID": 9839, "chromosome": 13, "chromosomeSymbol": "13", "chromosomeSort": 136, "chromosomeLocationStart": 48985180, "chromosomeLocationEnd": 49018839, "transcript": "uc010acu.3", "cytoLocation": "13q14.12-q14.2", "computedCytoLocation": "13q14.2", "mimNumber": 609239, "geneSymbols": "LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8", "geneName": "Lysophosphatidic acid receptor 6", "mappingMethod": "REc, Fd", "confidence": "C", "comments": "in intron 17 of RB gene", "mouseGeneSymbol": "Lpar6", "mouseMgiID": "MGI:1914418", "geneInheritance": null, "phenotypeMapList": [ {"phenotypeMap": { "mimNumber": 609239, "phenotype": "Hypotrichosis 8", "phenotypeMimNumber": 278150, "phenotypeMappingKey": 3, "phenotypeInheritance": "Autosomal recessive" } }, {"phenotypeMap": { "mimNumber": 609239, "phenotype": "Woolly hair, autosomal recessive 1, with or without hypotrichosis", "phenotypeMimNumber": 278150, "phenotypeMappingKey": 3, "phenotypeInheritance": "Autosomal recessive" } } ] , "matches": "hypotrichosi" } } ] } } }

Берём информацию из поля "geneSymbols": "LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8" и добавляем в фильтр по генам