Score

The disease matching score is based on the following parameters:

1. The number of genes in your query that match to a specific disease normalized by the total number of genes specifically associated with the disease.
2. The quality and type of the gene-disease relation. These relations are based on MalaCards sources and include the following relation types:

• Differentially expressed (DE) genes () are genes that were found to be significantly up- or downregulated in the diseased tissues in comparison to identical tissues obtained from unaffected subjects. The disease card contains up to 200 up- and 200 downregulated genes, derived from high throughput experiments extracted from the Gene Expression omnibus (GEO) or from the literature. The differentially expressed genes are calculated by an algorithm which filters out genes which their expression is highly variable among the samples. Then, differentially expressed genes are identified using the e-bayesian method; a gene is defined as differentially expressed if it is up-regulated or down-regulated by more than 2-folds in the diseased tissue in comparison to the matched normal tissue, and the p-value is equal to 0.05 or lower.
• Genetic associations to diseases () are determined from several MalaCards data sources. Since each data source has its own annotation terminology, we categorized all possible associations as shown in the genetic association table in a descending order of their score.
• The “GeneCards-inferred” () relation indicates that the disease name appears in the gene page in GeneCards. Of note, the ‘GeneCards-inferred’ relation does not imply causality between the gene and the disease and the nature of this relation may sometimes be unclear. For example, the gene can be indicated as ‘unaffected’ in the disease. Similarly, if a gene is related to a disease based on a ‘publication’, it means that the gene and the disease were mentioned in the title and/or abstract of the same publication.  There are two score levels for genes with GeneCards-inferred relations: a gene that appears in three or more different sections in GeneCards has higher score than a gene that appears in only one or two sections.

 For each gene, the maximal score of all the above mentioned possible scored is used as the final gene score. The disease score is based on the final scores of all the matched genes.

Disease Categories Filter

This panel filters results in accordance with the Malacards disease categorization. The Malacards algorithm categorizes each disease into 0-4 anatomical and 0-5 global disease categories based on:

1. Existing and widely used categorization systems such as ICD10 and Orphanet.
2.  Identification of category-specific keywords contained in disease names and annotations.

Use this filter to focus the results.

The numbers indicate the number of hits per disease category. These numbers are modified upon use of the additional category filter.

Note that not all the diseases are categorized. 

Genetic Associations Table

Association category	Genetic association	Source
Causative mutation	Pathogenic	ClinVar
	Likely Pathogenic	ClinVar
	Molecular basis known	OMIM
	Causative germline mutation	Orphanet
	Causative somatic mutation	Orphanet
	Causative mutation	Uniprot
Risk factor	Confers sensitivity	ClinVar
	Risk factor	ClinVar
	Genetic association	OMIM
	Susceptibility factor	OMIM
	Modifying Germline mutation	Orphanet
	Role in phenotype	Orphanet
	Modifying Somatic mutation	Orphanet
Resistance factor	Protective	ClinVar
	Resistance factor	OMIM
Genetic tests	Genetic tests	GeneTest
Drug response	Drug response	ClinVar
Structural gene variation	Structural variation	OMIM
	Gene fusion	Orphanet
Unconfirmed association	Unconfirmed association	OMIM
	Candidate gene tested	Orphanet
	Genetic linkage	OMIM