Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.400 Biomarker phenotype HPO
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.400 Biomarker phenotype GENOMICS_ENGLAND RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.400 Biomarker phenotype HPO
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		0.400 Biomarker phenotype GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3 		0.400 Biomarker phenotype GENOMICS_ENGLAND Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. 30481285 2019
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.400 Biomarker phenotype GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.400 Biomarker phenotype HPO
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.400 Biomarker phenotype HPO
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.400 Biomarker phenotype HPO
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 31607425 2019
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. 30929739 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		0.300 Biomarker phenotype GENOMICS_ENGLAND Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184 2004
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype GENOMICS_ENGLAND Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. 22060631 2012
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.100 Biomarker phenotype HPO
Entrez Id: 54476
Gene Symbol: RNF216
RNF216 		0.100 Biomarker phenotype HPO
Entrez Id: 79048
Gene Symbol: SECISBP2
SECISBP2 		0.100 Biomarker phenotype HPO
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.100 Biomarker phenotype HPO
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1 		0.100 Biomarker phenotype HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker phenotype HPO
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		0.100 Biomarker phenotype HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005