Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP 		0.610 Biomarker disease CTD_human TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. 26595769 2016
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP 		0.610 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4998
Gene Symbol: ORC1
ORC1 		0.450 Biomarker disease CTD_human Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 21358633 2011
Entrez Id: 25886
Gene Symbol: POC1A
POC1A 		0.440 Biomarker disease GENOMICS_ENGLAND SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 26791357 2016
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		0.440 Biomarker disease GENOMICS_ENGLAND Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
Entrez Id: 51574
Gene Symbol: LARP7
LARP7 		0.420 Biomarker disease GENOMICS_ENGLAND Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. 26374271 2016
Entrez Id: 10785
Gene Symbol: WDR4
WDR4 		0.420 Biomarker disease GENOMICS_ENGLAND Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 26416026 2015
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.410 Biomarker disease GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.410 Biomarker disease GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
Entrez Id: 29980
Gene Symbol: DONSON
DONSON 		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
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.410 Biomarker disease CTD_human Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.410 Biomarker disease GENOMICS_ENGLAND De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 10733
Gene Symbol: PLK4
PLK4 		0.410 Biomarker disease CTD_human Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 25344692 2014
Entrez Id: 7038
Gene Symbol: TG
TG 		0.410 Biomarker disease CTD_human A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats. 24582622 2014
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.400 Biomarker disease GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.400 Biomarker disease GENOMICS_ENGLAND RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
Entrez Id: 54361
Gene Symbol: WNT4
WNT4 		0.400 Biomarker disease CTD_human These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice. 17505543 2007
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.400 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		0.350 Biomarker disease GENOMICS_ENGLAND Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184 2004
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B 		0.310 Biomarker disease GENOMICS_ENGLAND De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. 30929739 2019
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1 		0.310 Biomarker disease GENOMICS_ENGLAND Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 31607425 2019
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.300 Biomarker disease CTD_human Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. 30478443 2019
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7 		0.300 Biomarker disease GENOMICS_ENGLAND Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. 29878199 2018