IL6 Gene (Protein Coding)

Interleukin 6

GC07P022765
GIFtS:
50
This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcrip... See more...

Aliases for IL6 Gene

Aliases for IL6 Gene

  • Interleukin 6 2 3 5
  • B-Cell Stimulatory Factor 2 3 4
  • CTL Differentiation Factor 3 4
  • Hybridoma Growth Factor 3 4
  • Interferon Beta-2 3 4
  • Interleukin-6 3 4
  • IFN-Beta-2 3 4
  • IFNB2 3 4
  • BSF-2 3 4
  • IL-6 3 4
  • CDF 3 4
  • Interleukin 6 (Interferon, Beta 2) 2
  • B-Cell Differentiation Factor 3
  • Interferon, Beta 2 2
  • Interleukin BSF-2 3
  • BSF2 3
  • HGF 3
  • HSF 3

External Ids for IL6 Gene

Previous HGNC Symbols for IL6 Gene

  • IFNB2

Previous GeneCards Identifiers for IL6 Gene

  • GC07P022409
  • GC07P022509
  • GC07P022540
  • GC07P022732

Summaries for IL6 Gene

Entrez Gene Summary for IL6 Gene

  • This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for IL6 Gene

IL6 (Interleukin 6) is a Protein Coding gene. Diseases associated with IL6 include Rheumatoid Arthritis, Systemic Juvenile and Kaposi Sarcoma. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include signaling receptor binding and growth factor activity.

UniProtKB/Swiss-Prot Summary for IL6 Gene

  • Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation.

Gene Wiki entry for IL6 Gene

Additional gene information for IL6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL6 Gene

Genomics for IL6 Gene

GeneHancer (GH) Regulatory Elements for IL6 Gene

Promoters and enhancers for IL6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J022724 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +1.7 1717 5.3 CTCF ZBTB6 SMARCE1 POLR2A ZNF362 MYC L3MBTL2 RAD21 MAX DACH1 IL6-AS1 STEAP1B IL6 TRA2A FAM126A LOC100506178
GH07J022569 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 47.3 -150.0 -150041 13.2 POLR2A CTBP1 ZNF217 RAD21 DACH1 MNT SP1 NCOA3 MAFK CEBPG IL6 IL6-AS1 STEAP1B LOC100506178 SNHG26 ENSG00000232949 lnc-RAPGEF5-3 lnc-STEAP1B-1
GH07J022695 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 36.3 -28.0 -27963 3.4 ZBTB40 SMARCE1 ETV6 RELA HLF RBM39 L3MBTL2 TEAD4 CBFA2T2 MLLT1 IL6-AS1 IL6 TRA2A EEF1A1P6 lnc-IL6-5 piR-43105-594 STEAP1B
GH07J022600 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 42.3 -123.6 -123642 2.4 RFX1 FOS ATF2 IL6 IL6-AS1 STEAP1B ENSG00000232949 lnc-RAPGEF5-3 lnc-STEAP1B-1
GH07J022597 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 35.8 -127.2 -127241 1.6 ZBTB40 JUN JUND CEBPG CEBPB IL6 IL6-AS1 ENSG00000232949 lnc-RAPGEF5-3 lnc-STEAP1B-1 STEAP1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL6 gene promoter:
  • C/EBPbeta
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR
  • GR-alpha
  • GR-beta
  • IRF-2
  • Nkx2-2
  • STAT3
  • YY1

Genomic Locations for IL6 Gene

Genomic Locations for IL6 Gene
chr7:22,725,442-22,732,002
(GRCh38/hg38)
Size:
6,561 bases
Orientation:
Plus strand
chr7:22,765,503-22,771,621
(GRCh37/hg19)
Size:
6,119 bases
Orientation:
Plus strand

Genomic View for IL6 Gene

Genes around IL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IL6 Gene

Proteins for IL6 Gene

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  • Protein details for IL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05231-IL6_HUMAN
    Recommended name:
    Interleukin-6
    Protein Accession:
    P05231
    Secondary Accessions:
    • Q9UCU2
    • Q9UCU3
    • Q9UCU4

    Protein attributes for IL6 Gene

    Size:
    212 amino acids
    Molecular mass:
    23718 Da
    Quaternary structure:
    • Interacts with IL6R (via the N-terminal ectodomain); this interaction may be affected by IL6R-binding with SORL1, hence decreasing IL6 cis signaling (PubMed:28265003). Interacts with SORL1 (via the N-terminal ectodomain); this interaction leads to IL6 internalization and lysosomal degradation (PubMed:28265003). May form a trimeric complex with the soluble SORL1 ectodomain and soluble IL6R receptor; this interaction might stabilize circulating IL6, hence promoting IL6 trans signaling (PubMed:28265003).

    Three dimensional structures from OCA and Proteopedia for IL6 Gene

neXtProt entry for IL6 Gene

Protein Expression for IL6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IL6 Gene

Other Protein References for IL6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for IL6

Protein Products

  • Abcam proteins for IL6

Assay Products

  • Abcam assays for IL6

No data available for DME Specific Peptides for IL6 Gene

Domains & Families for IL6 Gene

Gene Families for IL6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for IL6 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IL6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55231, highly similar to Interleukin-6 (B4DNQ5_HUMAN)
  • cDNA FLJ52006, moderately similar to Interleukin-6 (B4DNV3_HUMAN)
  • Interferon beta-2 (IL6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05231

UniProtKB/Swiss-Prot:

IL6_HUMAN :
  • Belongs to the IL-6 superfamily.
Family:
  • Belongs to the IL-6 superfamily.
genes like me logo Genes that share domains with IL6: view

Function for IL6 Gene

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Molecular function for IL6 Gene

UniProtKB/Swiss-Prot Function:
Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig-secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation.
GENATLAS Biochemistry:
interleukin 6,23.7kDa,involved in the regulation of immune response,hematopoiesis,platelet production,acute phase reaction and bone resorption (susceptibility factor for osteopenia),playing a role in the aggressiveness of non hodgkin lymphoma by stimulating MMP2 and MMP9

Phenotypes From GWAS Catalog for IL6 Gene

Gene Ontology (GO) - Molecular Function for IL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity NAS 10443688
GO:0005138 interleukin-6 receptor binding NAS 1883960
GO:0005515 protein binding IPI 11238858
GO:0008083 growth factor activity IDA 2261637
genes like me logo Genes that share ontologies with IL6: view
genes like me logo Genes that share phenotypes with IL6: view

Human Phenotype Ontology for IL6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL6 Gene

MGI Knock Outs for IL6:
  • Il6 Il6<tm1Kopf>
  • Il6 Il6<tm1Mur>
  • Il6 Il6<tm1Poli>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for IL6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL6 Gene

Localization for IL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4
endoplasmic reticulum 4
cytoskeleton 3
mitochondrion 3
cytosol 3
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 3023045
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005896 interleukin-6 receptor complex IDA 2261637
genes like me logo Genes that share ontologies with IL6: view

Pathways & Interactions for IL6 Gene

PathCards logo

SuperPathways for IL6 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
2 PEDF Induced Signaling
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
Cytokine-cytokine receptor interaction
.43
3 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
4 Toll-like Receptor Signaling Pathway
Toll-like receptor signaling pathway
.92
Toll-like Receptor Signaling Pathway
.92
Regulation of toll-like receptor signaling pathway
.71
NOD-like Receptor Signaling Pathways
.39
Hepatitis B
.37
Chagas disease (American trypanosomiasis)
.31
5 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.40
genes like me logo Genes that share pathways with IL6: view

SIGNOR curated interactions for IL6 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001781 neutrophil apoptotic process IDA 7595060
GO:0002384 hepatic immune response TAS 12832423
GO:0002446 neutrophil mediated immunity TAS 16034137
GO:0002548 monocyte chemotaxis IC 10510402
GO:0002675 positive regulation of acute inflammatory response IDA 2444978
genes like me logo Genes that share ontologies with IL6: view

Drugs & Compounds for IL6 Gene

Products:

  1. Drug

(141) Drugs for IL6 Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Siltuximab Approved, Investigational Pharma Target, antagonist, antibody 20
Vitamin C Approved Nutra 712,712
Vitamin E Approved, Vet_approved Nutra 504,508
Adalimumab Approved Pharma 569
Etanercept Approved, Investigational Pharma 436

(51) Additional Compounds for IL6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL6: view

Drug Products

Transcripts for IL6 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for IL6 Gene

(3) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for IL6

Alternative Splicing Database (ASD) splice patterns (SP) for IL6 Gene

No ASD Table

Relevant External Links for IL6 Gene

GeneLoc Exon Structure for
IL6
ECgene alternative splicing isoforms for
IL6

Expression for IL6 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL6 Gene

mRNA expression in normal human tissues for IL6 Gene
mRNA expression by BioGPS for IL6 GenemRNA expression by GTEx for IL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL6 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x10.0), Heart - Atrial Appendage (x6.6), and Lung (x4.5).

Protein differential expression in normal tissues from HIPED for IL6 Gene

This gene is overexpressed in Vitreous humor (36.3) and Bone marrow mesenchymal stem cell (32.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IL6 Gene



Protein tissue co-expression partners for IL6 Gene

NURSA nuclear receptor signaling pathways regulating expression of IL6 Gene:

IL6

SOURCE GeneReport for Unigene cluster for IL6 Gene:

Hs.654458

Evidence on tissue expression from TISSUES for IL6 Gene

  • Lung(4.9)
  • Blood(4)
  • Nervous system(4)
  • Intestine(3.7)
  • Bone marrow(3.6)
  • Liver(3.6)
  • Heart(3.5)
  • Spleen(3.5)
  • Muscle(3.4)
  • Lymph node(3.3)
  • Skin(3.1)
  • Kidney(3)
  • Bone(2.9)
  • Adrenal gland(2.8)
  • Pancreas(2.7)
  • Eye(2.5)
  • Urine(2.4)
  • Saliva(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL6: view

No data available for mRNA Expression by UniProt/SwissProt for IL6 Gene

Orthologs for IL6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia IL6 33 32
  • 99.69 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia IL6 33 32
  • 76.81 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Il6 17 33 32
  • 61.24 (n)
rat
(Rattus norvegicus)
 Mammalia Il6 32
  • 59.01 (n)
cow
(Bos Taurus)
 Mammalia IL6 33
  • 52 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia IL6 33
  • 40 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia IL6 33
  • 36 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves IL6 33 32
  • 53.43 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia IL6 33
  • 29 (a)
 OneToOne
Species where no ortholog for IL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL6 Gene

ENSEMBL:
Gene Tree for IL6 (if available)
TreeFam:
Gene Tree for IL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL6: view image

Paralogs for IL6 Gene

No data available for Paralogs for IL6 Gene

Variants for IL6 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for IL6 Gene

IL6_HUMAN-P05231
Genetic variations in IL6 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.

Sequence variations from dbSNP and Humsavar for IL6 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000829843 -- 22,730,527(+) A/G 3_prime_UTR_variant, intron_variant
rs1000900537 -- 22,730,773(+) A/G 3_prime_UTR_variant, intron_variant
rs1001171397 -- 22,724,325(+) C/A upstream_transcript_variant
rs1001486170 -- 22,732,209(+) T/C/G downstream_transcript_variant
rs1002148681 -- 22,727,152(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IL6 Gene

Variant ID Type Subtype PubMed ID
esv2759518 CNV loss 17122850
nsv7393 OTHER inversion 18451855

Variation tolerance for IL6 Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.52; 43.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL6 Gene

Human Gene Mutation Database (HGMD)
IL6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL6

SNP Genotyping and Copy Number Assay Products

Disorders for IL6 Gene

MalaCards: The human disease database

(388) MalaCards diseases for IL6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards