Pitt-hopkins syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Pitt-Hopkins syndrome
MONDO_0012589MONDO_0016377MONDO_0013690
TCF4 Causal
17436254 17436255 18728071 19235238 19938247 20184619 20205897 22045651 22670824 22777675 23528641 24896178 25356899 25529582 27132474 29588831 29604340 29695756 30848346
ClinGen, Open Targets
CNTNAP2 Unknown
16571880 19896112
Open Targets
NRXN1 Unknown
19896112 21964664 22337556 22617343 23533028 25486015 30031152 35101781
Open Targets
All3 Causal1 Unknown2
Related Diseases Diseases that share the most curated genes with Pitt-hopkins syndrome.
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Corneal edema 1 shared geneTCF4 Related via 1 shared gene including TCF4. Adrenal gland neoplasms 1 shared geneTCF4 Related via 1 shared gene including TCF4. Corneal disease 1 shared geneTCF4 Related via 1 shared gene including TCF4. Paranoia 1 shared geneTCF4 Related via 1 shared gene including TCF4. Congenital epicanthus 1 shared geneTCF4 Related via 1 shared gene including TCF4.