Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond. 25300141

2014
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. 15471890

2004
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR Multicystic dysplastic kidney and Kallmann's syndrome: a new association? 11390716

2001
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. 10340754

1999
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR Unilateral renal aplasia in X-linked Kallmann's syndrome. 7820942

1994
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 1922361

1991
dbSNP: rs1555904596
rs1555904596
ANOS1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		CGCCGCGCAGCA 0.700 CausalMutation CLINVAR The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. 1913827

1991