DONSON, downstream neighbor of SON, 29980

N. diseases: 55; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 GeneticVariation disease BEFREE Here, we present the clinical data of siblings with MISSLA featuring a novel DONSON variant and summarize the current literature on MISSLA. 31320746 2019
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 GeneticVariation disease BEFREE Co-occurrence of primordial dwarfism and microcephaly together with particular skeletal findings are seen in a wide range of Mendelian syndromes including microcephaly micromelia syndrome (MMS, OMIM 251230), microcephaly, short stature, and limb abnormalities (MISSLA, OMIM 617604), and microcephalic primordial dwarfisms (MPDs). 31407851 2019
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 Biomarker disease GENOMICS_ENGLAND Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. 28630177 2017
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 GeneticVariation disease UNIPROT Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 Biomarker disease GENOMICS_ENGLAND Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 CausalMutation disease CLINVAR
CUI: C4539873
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 		0.620 GeneticVariation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE Biallelic variants in DONSON have been recently described in individuals with microcephalic dwarfism. 31407851 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease BEFREE In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability. 28191891 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease CTD_human In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability. 28191891 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 GeneticVariation disease BEFREE We identified four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score < -3 SD), additional skeletal abnormalities, and microcephaly. 31407851 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease CTD_human In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability. 28191891 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease HPO
CUI: C1855079
Disease: Microcephaly-Micromelia Syndrome
Microcephaly-Micromelia Syndrome 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017
CUI: C1855079
Disease: Microcephaly-Micromelia Syndrome
Microcephaly-Micromelia Syndrome 		0.400 Biomarker disease GENOMICS_ENGLAND Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. 28630177 2017
CUI: C1855079
Disease: Microcephaly-Micromelia Syndrome
Microcephaly-Micromelia Syndrome 		0.400 CausalMutation disease CLINVAR
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 Biomarker disease CTD_human Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment. 25944804 2015
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker group CTD_human Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment. 25944804 2015
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 GeneticVariation disease BEFREE We also identified a de novo c.683G > T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, short stature and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (FFS, OMIM 134780). 31407851 2019
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 Biomarker disease HPO
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASCAT Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. 25854761 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO