×
Entrez Id: 25
Gene Symbol: ABL1
ABL1
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
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
Short stature
0.100
CausalMutation
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876 2017
×
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
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
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
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
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
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
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
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
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
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
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
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
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
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
Short stature
0.100
CausalMutation
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621 2011
×
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
Short stature
0.100
CausalMutation
CLINVAR
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
21907147 2011
×
Entrez Id: 5428
Gene Symbol: POLG
POLG
Short stature
0.100
CausalMutation
CLINVAR
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
20142534 2010
×
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
Short stature
0.100
GeneticVariation
CLINVAR
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
19684605 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
18372317 2008
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Short stature
0.100
CausalMutation
CLINVAR
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
17603482 2007
×
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Short stature
0.100
CausalMutation
CLINVAR
Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.
17875939 2007
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Short stature
0.100
CausalMutation
CLINVAR
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
17603483 2007
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Short stature
0.100
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218 2006