Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 GeneticVariation disease BEFREE Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. 31053103 2019
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 CausalMutation disease CLINVAR Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 28202457 2017
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 Biomarker disease GENOMICS_ENGLAND Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 28202457 2017
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 Biomarker disease GENOMICS_ENGLAND Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 GeneticVariation disease UNIPROT Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 CausalMutation disease CLINVAR Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 GeneticVariation disease BEFREE Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 Biomarker disease GENOMICS_ENGLAND Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 GermlineCausalMutation disease ORPHANET Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 Biomarker disease CTD_human
CUI: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		0.720 GeneticVariation disease CLINVAR
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		0.200 Biomarker phenotype MGD Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. 24029230 2013
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		0.200 Biomarker phenotype MGD The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development. 21412262 2011
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) (OMIM: *610456) and ataxia-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7 deletions, myelodysplastic syndrome (MDS), and bone marrow failure. 31306780 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 GeneticVariation disease BEFREE Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) (OMIM: *610456) and ataxia-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7 deletions, myelodysplastic syndrome (MDS), and bone marrow failure. 31306780 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. 29535429 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 GeneticVariation disease BEFREE By targeted sequencing of SAMD9L, we subsequently identified a different missense mutation (c.3587G>C, p.Cys1196Ser) in affected members of the first described family with AP syndrome, Li-AP. 27259050 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 GeneticVariation disease BEFREE SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years. 29535429 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 GeneticVariation disease BEFREE SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years. 29535429 2018
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013