×
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:
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:
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:
54517
Gene Symbol:
PUS7
PUS7
0.400
Biomarker
phenotype
HPO
×
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
Biomarker
phenotype
HPO
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
54476
Gene Symbol:
RNF216
RNF216
0.100
Biomarker
phenotype
HPO
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:
128674
Gene Symbol:
PROKR2
PROKR2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
89884
Gene Symbol:
LHX4
LHX4
0.100
Biomarker
phenotype
HPO