×
Entrez Id: 5020
Gene Symbol: OXT
OXT
0.300
Biomarker
phenotype
CTD_human
Use of tocolytic drugs to reverse oxytocin-induced uterine hypertonus and fetal distress.
2862618 1985
×
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: 8621
Gene Symbol: CDK13
CDK13
0.100
GeneticVariation
phenotype
CLINVAR
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
28807008 2017
×
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
0.100
CausalMutation
phenotype
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781 2016
×
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
0.100
GeneticVariation
phenotype
CLINVAR
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
24785942 2014
×
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 351
Gene Symbol: APP
APP
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.100
Biomarker
phenotype
HPO
TMEM106B
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
0.100
GeneticVariation
phenotype
CLINVAR