Details for Gene WDR11

GENE NAME WDR11
CHROMOSOME 10
ENSEMBL ID None
ENTREZ ID ENSG00000120008
UNIPROT ACCESSION NUMBER Q9BZH6
GO MOLECULAR FUNCTION ['protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS
15 combinations linked to WDR11 OLI014; OLI602; OLI854; OLI603; OLI1168; OLI1270; OLI1399; OLI1595; OLI357; OLI1299; OLI1357; OLI1165; OLI1164; OLI1263; OLI1115
16 variants linked to WDR11 WDR11:c.1306A>G, p.Ile436Val; WDR11:p.Val336Phe; WDR11:c.3571G>A, p.Gly1191Ser; WDR11:c.1592C>G, p.Ser531Cys; WDR11:c.155A>G, p.Gln52Arg; WDR11:c.3242G>A, p.Arg1081His; WDR11:c.3449T>C, p.Phe1150Ser; WDR11:c.2305A>G, p.Met769Val; WDR11:c.2146A>G, p.Ile716Val; WDR11:c.1425G>A, p.P475P; WDR11:c.2962G>A, p.Glu988Lys; WDR11:c.3319G>A, p.Asp1107Asn; WDR11:c.1649T>C, p.Val550Ala; WDR11:c.386G>A, p.Arg129His; WDR11:c.1175G>A, p.Arg392Gln; WDR11:c.1342C>T, p.Arg448Trp
5 diseases linked to WDR11 Pituitary stalk interruption syndrome; Hypogonadotropic hypogonadism with absent puberty phenotype; Normosmic congenital hypogonadotropic hypogonadism; Disorder of sex development; Kallmann syndrome
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