| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.750 | GeneticVariation | disease | BEFREE | Many mutations in the FAM83H gene have been identified to result in autosomal dominant hypocalcified amelogenesis imperfecta in different populations. | 28683132 | 2017 | ||||
|
0.750 | GeneticVariation | disease | UNIPROT | Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel. | 26142250 | 2015 | ||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel. | 26142250 | 2015 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. | 21702852 | 2011 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | FAM83H nonsense mutations have recently been recognised as a cause of AD hypocalcified AI. | 20160442 | 2010 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. | 19825039 | 2009 | ||||
|
0.750 | GeneticVariation | disease | UNIPROT | FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. | 18252228 | 2008 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. | 18252228 | 2008 | ||||
|
0.750 | GermlineCausalMutation | disease | ORPHANET | FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. | 18252228 | 2008 | ||||
|
0.750 | CausalMutation | disease | CLINVAR | |||||||
|
0.750 | Biomarker | disease | CTD_human |