Name

DEL2P21 Gene

Hypotonia-cystinuria syndrome

thrive Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term thrive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle Hypotonia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscle Hypotonia from the curated CTD Gene-Disease Associations dataset.

Hypotonia-Cystinuria Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypotonia-Cystinuria Syndrome from the curated CTD Gene-Disease Associations dataset.

apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c deficiency; seizures; stroke; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c deficiency; seizures; stroke; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypotonia Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hypotonia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

generalized hypotonia Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the generalized hypotonia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

muscular hypotonia Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the muscular hypotonia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

central hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the central hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

facial hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the facial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neonatal hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular hypotonia of the trunk Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular hypotonia of the trunk phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized neonatal hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile axial hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile axial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Muscle Hypotonia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Muscle Hypotonia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

hypotonia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hypotonia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hypotonia-cystinuria syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypotonia-cystinuria syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

?multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.