This is an online
repository of genetic disorders in the Israeli population. The data is obtained
mostly from publications in the medical literature as well as from some
unpublished observations contributed from individual clinicians. This database
intends to include all recessive Mendelian disorders and dominant/ X linked
Mendelian disorders that are either relatively frequent or have a specific
mutation reported at an increased frequency.
Efforts are made to
ensure that the Israeli National Genetic Database is accurate and up-to-date.
Nevertheless, there may be omissions and error; thus, the data should be used
Your feedback is highly
requested. Comments and suggestions will help improve this database for
This project is
dedicated to the memory of the late Professor Richard M Goodman whose
publications, specifically his book on genetic disorders among Jews, were an
Searching and Reading the Results
The names of disorders and genes are listed as seen in OMIM. In order to
facilitate the search of diseases there is also an option to free text search.
In some cases, there is not yet an OMIM entry and a provisional number was
classified according their country of origin before their migration to Israel.
The largest groups are the Ashkenazi Jews who originated from Eastern and Central
Europe. The Muslim Arabs are categorized as either Muslims or Bedouins (when
the distinction is known).
'Palestinian' designates Palestinian Arabs from the Palestinian Authority or
Palestinian Arabs reported without data on the exact origin.
according to ethnic groups does not include Ashkenazi Jews or Muslim Arabs.
Most of the Arab and Druze population are living in
villages, small towns with a strong tradition of marriages within the
family. The origin of some of the patients is known and available in
Search + (using a specific 'user name' and 'password')
Number of chromosomes column
The number of alleles was calculated in the independent patients who are known
and reported. In cases in which there are more than two non-related patients
reported, the mutation is assumed to be a founder mutation. For
Ashkenazi Jews the frequency in gnomAD browser was
also taken into consideration in classifying the mutations.
The frequency is
listed in a percent. It is calculated from a random sample of individuals from
the ethnic group or from the Ashkenazi Jewish population according to the data
in gnomAD (noted with an asterisk).
In certain cases,
such as the the Israeli Arabs or the Druze, the mutation(s) is limited to
either one or two villages, a tribe or a region. Thus, the number indicated represents
the frequency of the mutation in the particular village/tribe/region.
When available the PubMed link is given.
'p.c.' denotes personal communication; details may be available by contacting
Varsome; if a link to Clinvar exists, it is available in the Varsome database.
Joël Zlotogora MD, PhD (email@example.com or firstname.lastname@example.org).