Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 GermlineCausalMutation disease ORPHANET An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 25348816 2015
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 GeneticVariation disease UNIPROT An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 25348816 2015
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease CLINGEN An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. 25348816 2015
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 GermlineCausalMutation disease ORPHANET Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease CLINGEN Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 GeneticVariation disease UNIPROT Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 23824842 2013
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease CLINGEN Lamin B receptor: multi-tasking at the nuclear envelope. 21327105 2012
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease CLINGEN Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. 19940018 2010
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. 12490533 2003
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 Biomarker disease CLINGEN Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. 12490533 2003
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
0.700 CausalMutation disease CLINVAR