Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 105371260
Gene Symbol: LIX1L-AS1
LIX1L-AS1
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		0.100 CausalMutation CLINVAR Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. 28857120

2017
Entrez Id: 105371260
Gene Symbol: LIX1L-AS1
LIX1L-AS1
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		0.100 CausalMutation CLINVAR Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. 24053387

2013
Entrez Id: 105371260
Gene Symbol: LIX1L-AS1
LIX1L-AS1
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		0.100 CausalMutation CLINVAR Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. 22366785

2012