Disease: RAINE SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051849
rs796051849
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs796051849
rs796051849
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs796051850
rs796051850
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs796051850
rs796051850
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs796051852
rs796051852
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs796051852
rs796051852
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs797044462
rs797044462
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs797044462
rs797044462
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs778899041
rs778899041
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.700 GeneticVariation UNIPROT A secretory kinase complex regulates extracellular protein phosphorylation. 25789606 2015
dbSNP: rs778899041
rs778899041
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.700 GeneticVariation UNIPROT Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. 22582013 2012
dbSNP: rs778899041
rs778899041
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.700 GeneticVariation UNIPROT Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. 17924334 2007
dbSNP: rs267606795
rs267606795
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs779708323
rs779708323
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.700 GeneticVariation UNIPROT
dbSNP: rs796051851
rs796051851
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs796051853
rs796051853
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs796051854
rs796051854
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs796051855
rs796051855
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs796051874
rs796051874
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs796051875
rs796051875
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs148276213
rs148276213
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.010 GeneticVariation BEFREE Further study conducted using Clinical Exome Sequencing identified a homozygous missense variation c.1228 T > A (p.Ser410Thr) in the exon 6 of FAM20C gene - a likely pathogenic variant that confirmed the clinical diagnosis of RS. 29751744 2018
dbSNP: rs1377083279
rs1377083279
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
CUI: C1850106
Disease:
RAINE SYNDROME 		0.010 GeneticVariation 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