MCID: KLL008

Kallmann Syndrome 6 malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Smell/Taste diseases categories

Aliases & Classifications for Kallmann Syndrome 6

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Aliases & Descriptions for Kallmann Syndrome 6:

Name: Kallmann Syndrome 6 42 22 61
 
Kal6 42


Classifications:



Summaries for Kallmann Syndrome 6

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MalaCards based summary: Kallmann Syndrome 6, is also known as kal6 An important gene associated with Kallmann Syndrome 6 is FGF8 (fibroblast growth factor 8 (androgen-induced)).

Related Diseases for Kallmann Syndrome 6

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Symptoms for Kallmann Syndrome 6

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Drugs & Therapeutics for Kallmann Syndrome 6

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Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 6

Search NIH Clinical Center for Kallmann Syndrome 6

Genetic Tests for Kallmann Syndrome 6

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Genetic tests related to Kallmann Syndrome 6:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 622

Anatomical Context for Kallmann Syndrome 6

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Animal Models for Kallmann Syndrome 6 or affiliated genes

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Publications for Kallmann Syndrome 6

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Variations for Kallmann Syndrome 6

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Clinvar genetic disease variations for Kallmann Syndrome 6:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGF8NM_033163.3(FGF8): c.40C> A (p.His14Asn)single nucleotide variantPathogenicrs137852659GRCh37Chr 10, 103535526: 103535526
2FGF8NM_033163.3(FGF8): c.77C> T (p.Pro26Leu)single nucleotide variantPathogenicrs137852660GRCh37Chr 10, 103534966: 103534966
3FGF8NM_033163.3(FGF8): c.118T> C (p.Phe40Leu)single nucleotide variantPathogenicrs137852661GRCh37Chr 10, 103534925: 103534925
4FGF8NM_033163.3(FGF8): c.298A> G (p.Lys100Glu)single nucleotide variantPathogenicrs137852662GRCh37Chr 10, 103534528: 103534528
5FGF8NM_033163.3(FGF8): c.379C> G (p.Arg127Gly)single nucleotide variantPathogenicrs137852663GRCh37Chr 10, 103531285: 103531285

Expression for genes affiliated with Kallmann Syndrome 6

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Search GEO for disease gene expression data for Kallmann Syndrome 6.

Pathways for genes affiliated with Kallmann Syndrome 6

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Compounds for genes affiliated with Kallmann Syndrome 6

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GO Terms for genes affiliated with Kallmann Syndrome 6

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Sources for Kallmann Syndrome 6

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet