Disease: RAINE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. 30151622 2019
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. 31297960 2019
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation. 31471673 2019
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Fam20C is a secreted protein kinase mutated in Raine syndrome, a human skeletal disorder. 31541016 2019
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Clinical indications, striking radiological findings and molecular testing of FAM20C gene confirmed the diagnosis of RS. 29751744 2018
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). 27862258 2017
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). 27862258 2017
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 AlteredExpression disease BEFREE FAM20C mutations in humans cause Raine syndrome and our previous studies showed that global inactivation of mouse Fam20C led to bone and dental defects. 28620244 2017
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. 25928877 2015
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. 25974638 2015
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. 25974638 2015
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease UNIPROT A secretory kinase complex regulates extracellular protein phosphorylation. 25789606 2015
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. 25019372 2014
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE To clarify the mechanism of how FAM20C regulates FGF23, we performed functional analysis of mutant FAM20C proteins reported in Raine syndrome. 25026495 2014
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE We report an adult case of Raine syndrome accompanying hypophosphatemic osteomalacia with a homozygous FAM20C mutation (R408W) associated with increased periosteal bone formation in the long bones and an increase in bone mineral density in the femoral neck. 24982027 2014
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. 24039075 2013
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome. 22582013 2012
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Genetic studies showed that the loss-of-function mutations in FAM20C were associated with human lethal osteosclerotic bone dysplasia (Raine Syndrome), implying an inhibitory role of this molecule in bone formation. 22615579 2012
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease UNIPROT Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome. 22582013 2012
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 Biomarker disease BEFREE Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome. 22900076 2012
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. 20825432 2011
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. 20825432 2011
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE However, the identification of mutations in these two patients confirms a broader phenotypic spectrum and that mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis. 19250384 2009
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND However, the identification of mutations in these two patients confirms a broader phenotypic spectrum and that mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis. 19250384 2009
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		0.800 GeneticVariation disease BEFREE Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. 17924334 2007