WDR11 — WD repeat domain 11

5 sources retrieved · Most recent: April 2026 · Index updated 23 days ago

92PubMed Papers

#5,216 · top 27% of 19K genes

22Diseases

top 5%

0Drugs

16Pathogenic Variants

top 44%

OMIM Disease GeneOncogeneExperimental GO EvidenceSwiss-Prot Reviewed

protein bindingintracellular protein transportnucleuslysosomal membraneisolated congenital hypogonadotropic hypogonadismhypogonadotropic hypogonadism 14 with or without anosmiamicrocephalyintellectual developmental disorder, autosomal recessive 78

AI Summary

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WD repeat domain 11

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations22

isolated congenital hypogonadotropic hypogonadismOpen Targets

0.64Moderate

hypogonadotropic hypogonadism 14 with or without anosmiaOpen Targets

0.62Moderate

microcephalyOpen Targets

0.59Moderate

intellectual developmental disorder, autosomal recessive 78Open Targets

0.58Moderate

Kallmann syndromeOpen Targets

0.50Moderate

type 2 diabetes mellitusOpen Targets

0.48Moderate

benign prostatic hyperplasiaOpen Targets

0.44Moderate

prostate carcinomaOpen Targets

0.43Moderate

Intellectual disabilityOpen Targets

0.42Moderate

hypogonadotropic hypogonadismOpen Targets

0.42Moderate

Short statureOpen Targets

0.42Moderate

microcephaly with intellectual disabilityOpen Targets

0.37Weak

hypertensionOpen Targets

0.31Weak

smoking initiationOpen Targets

0.31Weak

Abruptio PlacentaeOpen Targets

0.30Weak

male reproductive organ cancerOpen Targets

0.30Weak

diabetes mellitusOpen Targets

0.30Weak

essential hypertensionOpen Targets

0.30Weak

response to antipsychotic drugOpen Targets

0.29Weak

renal osteodystrophyOpen Targets

0.29Weak

Hypogonadotropic hypogonadism 14 with or without anosmiaUniProt

Intellectual developmental disorder, autosomal recessive 78UniProt

Pathogenic Variants16

NM_018117.12(WDR11):c.3033_3036delPathogenic

Microcephaly|Intellectual developmental disorder, autosomal recessive 78|not provided

★★☆☆2026

NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter)Pathogenic

Microcephaly|Intellectual developmental disorder, autosomal recessive 78

★★☆☆2026→ Residue 419

NM_018117.12(WDR11):c.949C>T (p.Arg317Ter)Pathogenic

Intellectual developmental disorder, autosomal recessive 78

★☆☆☆2026→ Residue 317

NM_018117.12(WDR11):c.879+1G>TLikely pathogenic

Hypogonadotropic hypogonadism 14 with or without anosmia

★☆☆☆2025

NM_018117.12(WDR11):c.3141dup (p.Ser1048fs)Likely pathogenic

WDR11-related disorder

★☆☆☆2024→ Residue 1048

NM_018117.12(WDR11):c.352+1G>ALikely pathogenic

WDR11-related disorder

★☆☆☆2023

NM_018117.12(WDR11):c.3292-1G>CLikely pathogenic

not provided

★☆☆☆2022

NM_018117.12(WDR11):c.1153del (p.Leu385fs)Pathogenic

not provided

★☆☆☆2022→ Residue 385

NM_018117.12(WDR11):c.1280T>G (p.Leu427Ter)Pathogenic

not provided

★☆☆☆2022→ Residue 427

NM_018117.12(WDR11):c.163dup (p.Gln55fs)Likely pathogenic

Hypogonadotropic hypogonadism 14 with or without anosmia

★☆☆☆2022→ Residue 55

NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter)Likely pathogenic

Hypogonadotropic hypogonadism 14 with or without anosmia

★☆☆☆2019→ Residue 617

NM_018117.12(WDR11):c.1439del (p.Asn480fs)Pathogenic

Microcephaly|Intellectual developmental disorder, autosomal recessive 78|WDR11-related disorder

★☆☆☆→ Residue 480

NM_018117.12(WDR11):c.2931+1G>APathogenic

Microcephaly|Intellectual developmental disorder, autosomal recessive 78

★☆☆☆

NM_018117.12(WDR11):c.458G>A (p.Trp153Ter)Likely pathogenic

Hypogonadotropic hypogonadism 14 with or without anosmia

☆☆☆☆2025→ Residue 153

NM_018117.12(WDR11):c.2070T>A (p.His690Gln)Pathogenic

Hypogonadotropic hypogonadism 14 with anosmia|not provided

☆☆☆☆2010→ Residue 690

NM_018117.12(WDR11):c.3220_3223del (p.Asp1074fs)Likely pathogenic

Hypogonadotropic hypogonadism 14 with or without anosmia

☆☆☆☆→ Residue 1074

Tissue Expression6 tissues

Bone Marrow

100%

Ovary

96%

Liver

88%

Lung

77%

Heart

52%

Brain

39%

Gene Interaction Network6 neighbors

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Structure2 PDB hits

Preparing viewer…

PDB8Z9M · 3.30 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.62LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.50 [0.41–0.62]

Rankings3 dim

Where WDR11 stands among ~20K protein-coding genes

#5,226of 20,598
Most Researched92
#2,401of 5,499
Most Pathogenic Variants16
#4,309of 17,882
Most Constrained (LOEUF)0.62 · top quartile