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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
INTELLECTUAL DISABILITY NGLY1 Causal — Disgenet
NIPBL Causal — Disgenet
NLGN3 Causal — Disgenet
NOVA2 Causal — Disgenet —
NPR2 Causal — Disgenet
NPRL3 Causal — Disgenet
NRXN1 Causal CTD, Disgenet
NSD1 Causal CTD, Disgenet
NSUN2 Causal — Disgenet
NUDT2 Causal — Disgenet
OTOG Causal — Disgenet —
OTUD6B Causal — Disgenet —
P4HTM Causal — Disgenet —
PACS1 Causal — Disgenet
PACS2 Causal — Disgenet —
PAFAH1B1 Causal — Disgenet
PAH Causal — Disgenet
PAK3 Causal — Disgenet
PALS1 Causal — Disgenet
PAX3 Causal — Disgenet
PCDH19 Causal — Disgenet —
PCGF2 Causal — Disgenet
PHC1 Causal — Disgenet
PHF21A Causal — Disgenet
PHF6 Causal — Disgenet
PHF8 Causal — Disgenet
PHIP Causal CTD, Disgenet —
PIK3R2 Causal — Disgenet
EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +129 more
PLAG1 Causal — Disgenet —
PLP1 Causal — Disgenet —
PMM2 Causal CTD, Disgenet
PNKP Causal — Disgenet
POGZ Causal — Disgenet —
POLD1 Causal — Disgenet
POLG Causal — Disgenet
POMT2 Causal — Disgenet
POU3F3 Causal — Disgenet —
PPP3CA Causal — Disgenet
PQBP1 Causal — Disgenet
PRR12 Causal — Disgenet —
PSMD12 Causal — Disgenet
Proteasome Alzheimer disease Parkinson disease +58 more
PTCHD1 Causal CTD, Disgenet —
PTEN Causal CTD, Disgenet
PTPN11 Causal — Disgenet
Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
PTPN4 Causal — Disgenet
PURA Causal — Disgenet —
QRICH1 Causal — Disgenet —
RAC3 Causal — Disgenet
RAI1 Causal CTD, Disgenet —
RALA Causal — Disgenet
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 5 NSUN2 Causal CTD, ClinVar
All809 Causal429 Unknown517