Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0349588
Disease: Short stature
Short stature
0.400 CausalMutation CLINVAR

Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019

Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019

Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017

Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017

Entrez Id: 23498
Gene Symbol: HAAO
HAAO
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014

Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011