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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664

1998
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker HPO

Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker HPO

Entrez Id: 54517
Gene Symbol: PUS7
PUS7
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker HPO

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker HPO

Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker HPO

Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: 9922
Gene Symbol: IQSEC1
IQSEC1
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 31607425

2019
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: 201163
Gene Symbol: FLCN
FLCN
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 29926
Gene Symbol: GMPPA
GMPPA
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 10525
Gene Symbol: HYOU1
HYOU1
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 121214
Gene Symbol: SDR9C7
SDR9C7
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 55112
Gene Symbol: WDR60
WDR60
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO