Table 10 Validation of false positives in the top 10 ranked predictions
Gene name | Protein | HPO ID | HPO name | PubMed ID | Disease | Evidence |
|---|---|---|---|---|---|---|
SH3TC2 | Q8TF17 | HP:0001315 | Reduced tendon reflexes | PMID: 14574644 | Charcot-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." |
FOXG1 | P55316 | HP:0001263 | Global developmental delay | PMID: 19578037 | Rett 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." |