Val Wood

These should all be also neurodegenerative diseases

Another missing association Mtx2 .0005 MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (MONDO:0030880)

For the SPAC15A10.04c zpr1 **Defects in this gene or the SMN1 gene can cause spinal muscular atrophy MONARCH, but human (ZPR1) has no disease assignment one, this appears to be...

Another ECM10 MONDO:0031011 .0001 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES

They are causal for the disease (or at least they seem to be). Most are single-gene diseases.

@matentzn What do you mean by causal? To me causal means that it is demonstrated that a variation causes the disease?

As far as I am aware yes, these are all single-gene diseases.

Also, it's a PINTA to need to look them up :)

HI @joeflack4 ! @sartweedie at the HGNC should be able to point you to a mapping source for human gene synonyms to current names.

Yes I mean symbol sorry about that. symbols change over time for various reasons . hopefully @sartweedie can explain more about the name changes.