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[Preprint]. 2025 Apr 30:2024.08.23.609190. Originally published 2024 Aug 24. [Version 2] doi: 10.1101/2024.08.23.609190

Table 4.

Disorder and behavioral associations of top nodes by cell-type and behavioral set from MalaCards, OMIM, and GWAS catalogue.

Cell type Top Node Gene name Mota P Z-score Rare Disorders GWAS
Mature iGLUT 1 CNBP Sterol-mediated transcriptional repression 2.9e-16 8.18 Myotonic Dystrophy, Neuromyotonia & axonal neuropathy (AR), Creutzfeldt-Jakob Disease, Deafness (AR), Fragie-X tremor/ataxia, ALS
ANKRD36 1.95e-18 8.8
2 FOXJ3 1.7e-17 8.5
ATP6VOC 5.3e–44 −13.9 ASD, Epilepsy, NDD
3 FOXJ3 Gene expression regulation/chromatin 1.9e-19 9.02 EA (rs35011283)
SOX12 Implicated in cell fate decisions during development 1.6e-17 −8.52 Microphtalmia Syndromic 12 (neurological) Memory performance (rs78532272)
4 FOXJ3 7.9e-22 9.6
ANKRD36 Ankyrin Repeat Domain 36 6.6-e26 −10.5 Neuropathy, Giant Axonal Nonsyndromic Deafness (AR) SCZ (rs9631085), neuroimaging (rs11692435, rs167684, +6)
Mature iGABA 1 UBE2D4 Ubiquitin-Conjugating Enzyme E2 D4 1.2e-09 6.1
PRKAG2 Protein Kinase AMP-Activated Non-Catalytic Subunit 6.7e-7 −4.97 Wolff-Parkinson-White Syndrome, Neuromuscular Disease, Specific Language Impairment. Microencephaly, Epilepsy EA (rs1860735, rs2538046, rs4726070), ASD/SCZ (rs115136442), impulse control (rs2302532), BIP (rs7795096), memory (rs2536058)
2 MYL3 BBB & immune cell trasnmigration 4e–12 6.9 Wolff-Parkinson-White Syndrome, Microencephaly, Epiliepsy
TNFSF11 3.6e-10 −6.3 ID, NDD, developmental & epileptic encephalopathy, IBS,
3 KIF1A Axonal Transporter Of Synaptic Vesicles 8.8e-12 6.8 ID, ASD, neuropathy, Epilepsy, Spastic Ataxia, Cortical Dysplasia, Alacrima, Achalasia, and Impaired ID Syndrome Insomnia (rs10196604, rs4455151)
UNC5C Netrin Receptor 3.98e-8 −5.5 Alzheimer Disease, Familial 1 Insomnia (rs371745379), wellbeing (rs116984513), OCD (rs17384439), cognition (rs3846455), unipolar depression (rs6822806)
4 UBE2D4 8.5e-13 7.2
UBC 1.70–10 −6.4 Parkinson’s disease, epilepsy, muscular dystrophy Sleep duration (rs10773112), AD (rs78184510),