×
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:
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:
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:
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:
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:
54517
Gene Symbol:
PUS7
PUS7
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
345895
Gene Symbol:
RSPH4A
RSPH4A
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
×
Entrez Id:
26224
Gene Symbol:
FBXL3
FBXL3
0.400
Biomarker
phenotype
HPO
×
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:
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:
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:
23363
Gene Symbol:
OBSL1
OBSL1
0.100
GeneticVariation
phenotype
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
7355
Gene Symbol:
SLC35A2
SLC35A2
0.100
GeneticVariation
phenotype
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854
2019
×
Entrez Id:
49855
Gene Symbol:
SCAPER
SCAPER
0.100
CausalMutation
phenotype
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
0.100
GeneticVariation
phenotype
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
9820
Gene Symbol:
CUL7
CUL7
0.100
GeneticVariation
phenotype
CLINVAR
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
30980518
2019
×
Entrez Id:
513
Gene Symbol:
ATP5F1D
ATP5F1D
0.100
CausalMutation
phenotype
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
0.100
CausalMutation
phenotype
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
Entrez Id:
25
Gene Symbol:
ABL1
ABL1
0.100
CausalMutation
phenotype
CLINVAR
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
28288113
2017