Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC 		0.300 Biomarker disease CTD_human Analysis of hematopathology and alteration of JAK1/STAT3/STAT5 signaling axis in experimental myelodysplastic syndrome. 27725143 2016
Entrez Id: 7067
Gene Symbol: THRA
THRA 		0.300 Biomarker disease GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
Entrez Id: 3815
Gene Symbol: KIT
KIT 		0.200 Biomarker disease MGD
Entrez Id: 6208
Gene Symbol: RPS14
RPS14 		0.140 GeneticVariation disease BEFREE The del(5q) myelodysplastic syndrome (MDS) is a distinct subtype of MDS, associated with deletion of the ribosomal protein S14 (<i>RPS14</i>) gene that results in macrocytic anemia. 31540902 2019
Entrez Id: 6208
Gene Symbol: RPS14
RPS14 		0.140 GeneticVariation disease BEFREE Acquired uniallelic deletion of RPS14 gene has also been shown to lead to the 5q syndrome, a distinct subset of MDS associated with macrocytic anemia. 22709827 2012
Entrez Id: 6208
Gene Symbol: RPS14
RPS14 		0.140 AlteredExpression disease BEFREE Heterozygous loss of the RPS14 gene on 5q leads to activation of p53 in the erythroid lineage and the macrocytic anemia characteristic of the 5q-syndrome. 21943668 2011
Entrez Id: 6208
Gene Symbol: RPS14
RPS14 		0.140 GeneticVariation disease BEFREE Haploinsufficiency of the Cd74-Nid67 interval (containing Rps14, encoding the ribosomal protein S14) caused macrocytic anemia, prominent erythroid dysplasia and monolobulated megakaryocytes in the bone marrow. 19966810 2010
Entrez Id: 6208
Gene Symbol: RPS14
RPS14 		0.140 Biomarker disease HPO
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		0.110 GeneticVariation disease BEFREE Mutations in the erythroid-specific ALA synthase 2 (ALAS2) gene cause microcytic anemia, whereas mitochondrial DNA deletions are responsible for Pearsons syndrome with a macrocytic anemia. 9372069 1996
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		0.110 Biomarker disease HPO
Entrez Id: 6235
Gene Symbol: RPS29
RPS29 		0.100 Biomarker disease HPO
Entrez Id: 51520
Gene Symbol: LARS1
LARS1 		0.100 Biomarker disease HPO
Entrez Id: 11224
Gene Symbol: RPL35
RPL35 		0.100 Biomarker disease HPO
Entrez Id: 6231
Gene Symbol: RPS26
RPS26 		0.100 Biomarker disease HPO
Entrez Id: 6201
Gene Symbol: RPS7
RPS7 		0.100 Biomarker disease HPO
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		0.100 Biomarker disease HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker disease HPO
Entrez Id: 6141
Gene Symbol: RPL18
RPL18 		0.100 Biomarker disease HPO
Entrez Id: 6138
Gene Symbol: RPL15
RPL15 		0.100 Biomarker disease HPO
Entrez Id: 90121
Gene Symbol: TSR2
TSR2 		0.100 Biomarker disease HPO
Entrez Id: 54790
Gene Symbol: TET2
TET2 		0.100 Biomarker disease HPO
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 Biomarker disease HPO
Entrez Id: 6232
Gene Symbol: RPS27
RPS27 		0.100 Biomarker disease HPO
Entrez Id: 6229
Gene Symbol: RPS24
RPS24 		0.100 Biomarker disease HPO
Entrez Id: 51816
Gene Symbol: ADA2
ADA2 		0.100 Biomarker disease HPO