KDSR, 3-ketodihydrosphingosine reductase, 2531

N. diseases: 52; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.600 GeneticVariation disease UNIPROT Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 28575652 2017
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 28575652 2017
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4479620
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 		0.600 CausalMutation disease CLINVAR
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 AlteredExpression disease LHGDN We investigated the expression of FVT1 in a variety of B-cell non-Hodgkin lymphomas and found that FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma (DLBCL) when compared with non-germinal center-type DLBCL, follicular lymphoma, and normal tonsil control samples. 19019774 2008
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 GeneticVariation disease BEFREE The proximity of FVT-1 to the BCL-2 locus suggests that in the t(14;18) currently observed in follicular lymphomas, both genes would participate in the tumoral process. 8417785 1993
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.310 GeneticVariation disease BEFREE KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for <i>de novo</i> sphingolipid synthesis, and pathogenic mutations in <i>KDSR</i> result in the severe skin disorder <i>erythrokeratodermia variabilis et progressiva-4</i> Four of the eight reported cases also had thrombocytopenia but the underlying mechanism has remained unexplored. 30467204 2019
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.310 GermlineCausalMutation disease ORPHANET Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 28575652 2017
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.300 Biomarker group GENOMICS_ENGLAND Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 28575652 2017
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		0.300 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.100 Biomarker group HPO