Gene: SMOC1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease BEFREE A 9-month-old female patient is presented herein, who was diagnosed with ophthalmo-acromelic syndrome and had a homozygous nonsense mutation (p.Arg75Ter) in SMOC1, along with a review of the literature. 31067494 2019
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease BEFREE A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. 30445150 2019
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease BEFREE Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. 30586382 2018
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease BEFREE Our study extended the mutation spectrum of SMOC1 gene related to WAS. 28807869 2017
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease BEFREE The mutation identified in the present investigation extends the body of evidence implicating the gene SMOC-1 in causing WAS. 28085523 2017
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease CLINVAR A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome. 28085523 2017
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease BEFREE Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant. 23646827 2013
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 CausalMutation disease CLINVAR Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant. 23646827 2013
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease UNIPROT Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant. 23646827 2013
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease BEFREE We aimed to identify a pathogenic mutation in one Lebanese family having an MLA-like condition without SMOC1 mutation by whole-exome sequencing (WES) combined with homozygosity mapping. 23703728 2013
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease BEFREE Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. 21194678 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease UNIPROT Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. 21194678 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease UNIPROT Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 21194680 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease MGD Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 21750680 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease BEFREE Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 21750680 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease MGD Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. 21194678 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease GENOMICS_ENGLAND Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 21194680 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 CausalMutation disease CLINVAR Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 21194680 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GeneticVariation disease UNIPROT Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 21750680 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease GENOMICS_ENGLAND Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. 21194678 2011
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease CTD_human
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.990 GermlineCausalMutation disease ORPHANET