WDR11, WD repeat domain 11, 55717

N. diseases: 179; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs318240760
rs318240760
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs318240760
rs318240760
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs318240760
rs318240760
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs139007744
rs139007744
Entrez Id: 55717;105378519
Gene Symbol: WDR11;LOC105378519
WDR11;LOC105378519
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs144440500
rs144440500
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs201051480
rs201051480
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs318240761
rs318240761
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs4548546
rs4548546
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C1704272
Disease:
Benign Prostatic Hyperplasia 		T 0.700 GeneticVariation GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
dbSNP: rs4548546
rs4548546
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C0574785
Disease:
Lower Urinary Tract Symptoms 		T 0.700 GeneticVariation GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
dbSNP: rs4548546
rs4548546
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C0201544
Disease:
Prostate specific antigen measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
dbSNP: rs761599645
rs761599645
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs139007744
rs139007744
Entrez Id: 55717;105378519
Gene Symbol: WDR11;LOC105378519
WDR11;LOC105378519
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs144440500
rs144440500
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs201051480
rs201051480
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs318240761
rs318240761
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs761599645
rs761599645
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs1269636220
rs1269636220
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C0008924
Disease:
Cleft upper lip 		0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944 2015
dbSNP: rs1269636220
rs1269636220
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C0162809
Disease:
Kallmann Syndrome 		0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944 2015
dbSNP: rs1269636220
rs1269636220
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C0158646
Disease:
Cleft palate with cleft lip 		0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944 2015
dbSNP: rs1269636220
rs1269636220
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C4321245
Disease:
Cleft lip or lips 		0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944 2015
dbSNP: rs1269636220
rs1269636220
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C0240635
Disease:
Byzanthine arch palate 		0.010 GeneticVariation BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944 2015