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), |