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HPOFiller

Table 6. Top disease-gene associations found by HPOFiller that are newly added to the latest OMIM database

Rank Protein ID Gene

114

P05231

1323

4032

Q30201

P05164

IL6

Protein name

HPO term ID

Interleukin-6

Cerebral arteriovenous

Arteriovenous malformations

HP:0002408

OMIM:108010

malformation

of the brain (BAVM)

HFE Hereditary hemochromatosis protein HP:0000726

MPO

Myeloperoxidase

HP:0002423

HPO term name

Dementia

Long-tract signs

Disease ID

OMIM:104300

Disease name

Alzheimer disease (AD)

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