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Table 10 Validation of false positives in the top 10 ranked predictions

From: HPOAnnotator: improving large-scale prediction of HPO annotations by low-rank approximation with HPO semantic similarities and multiple PPI networks

Gene nameProteinHPO IDHPO namePubMed IDDiseaseEvidence
SH3TC2Q8TF17HP:0001315Reduced tendon reflexesPMID: 14574644Charcot-Marie-Tooth disease 4C (CMT4C)"Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4."
FOXG1P55316HP:0001263Global developmental delayPMID: 19578037Rett syndrome congenital variant (RTTCV)"Rett syndromeis a severe neurodevelopmental disorder representing one of the most common genetic causes of mental retardation in girls. The classic form is caused by MECP2 mutations. In two patients affected by the congenital variant of Rett we have recently identified mutations in the FOXG1 gene encoding a brain specific transcriptional repressor, essential for early development of the telencephalon."