Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285

2019
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862

2018
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305

2017
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker GENOMICS_ENGLAND RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779

2015
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664

1998
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker HPO

Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker HPO

Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker HPO

Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker HPO

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0349588
Disease: Short stature
Short stature 		0.400 CausalMutation CLINVAR

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker HPO

Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1
CUI: C0349588
Disease: Short stature
Short stature 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 31607425

2019
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B
CUI: C0349588
Disease: Short stature
Short stature 		0.300 Biomarker GENOMICS_ENGLAND De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. 30929739

2019
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
CUI: C0349588
Disease: Short stature
Short stature 		0.300 Biomarker GENOMICS_ENGLAND Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. 29878199

2018
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C0349588
Disease: Short stature
Short stature 		0.300 Biomarker GENOMICS_ENGLAND Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. 22060631

2012
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0349588
Disease: Short stature
Short stature 		0.300 Biomarker GENOMICS_ENGLAND Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0349588
Disease: Short stature
Short stature 		0.300 Biomarker GENOMICS_ENGLAND Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004
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