Autosomal dominant non-syndromic intellectual disability
ORPHA:178469Etiological subtypeAutosomal dominantChildhood, Infancy
Ассоциированные гены43
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | Disease-causing germline mutation(s) in | gene with protein product | 602235 |
| ERBB4 | erb-b2 receptor tyrosine kinase 4 | Disease-causing germline mutation(s) in | gene with protein product | 600543 |
| BRSK2 | BR serine/threonine kinase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609236 |
| SLC6A1 | solute carrier family 6 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 137165 |
| SETD1B | SET domain containing 1B, histone lysine methyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 611055 |
| CLTC | clathrin heavy chain | Disease-causing germline mutation(s) in | gene with protein product | 118955 |
| ITSN1 | intersectin 1 | Disease-causing germline mutation(s) in | gene with protein product | 602442 |
| PRICKLE2 | prickle planar cell polarity protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 608501 |
| HIVEP2 | HIVEP zinc finger 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 143054 |
| KDM5B | lysine demethylase 5B | Candidate gene tested in | gene with protein product | 605393 |
| GABBR1 | gamma-aminobutyric acid type B receptor subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 603540 |
| DPYSL2 | dihydropyrimidinase like 2 | Disease-causing germline mutation(s) in | gene with protein product | 602463 |
| SET | SET nuclear proto-oncogene | Disease-causing germline mutation(s) in | gene with protein product | 600960 |
| ARF3 | ARF GTPase 3 | Disease-causing germline mutation(s) in | gene with protein product | 103190 |
| CACNA1I | calcium voltage-gated channel subunit alpha1 I | Disease-causing germline mutation(s) in | gene with protein product | 608230 |
| RAB11A | RAB11A, member RAS oncogene family | Disease-causing germline mutation(s) in | gene with protein product | 605570 |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 114105 |
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 138248 |
| KCNQ5 | potassium voltage-gated channel subfamily Q member 5 | Disease-causing germline mutation(s) in | gene with protein product | 607357 |
| DLL1 | delta like canonical Notch ligand 1 | Disease-causing germline mutation(s) in | gene with protein product | 606582 |
| SCN8A | sodium voltage-gated channel alpha subunit 8 | Disease-causing germline mutation(s) in | gene with protein product | 600702 |
| TAOK1 | TAO kinase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610266 |
| TRPM3 | transient receptor potential cation channel subfamily M member 3 | Disease-causing germline mutation(s) in | gene with protein product | 608961 |
| NBEA | neurobeachin | Disease-causing germline mutation(s) in | gene with protein product | 604889 |
| CIC | capicua transcriptional repressor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 612082 |
| CSNK2B | casein kinase 2 beta | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 115441 |
| ASH1L | ASH1 like histone lysine methyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 607999 |
| SEMA6B | semaphorin 6B | Disease-causing germline mutation(s) in | gene with protein product | 608873 |
| CUX1 | cut like homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 116896 |
| YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Disease-causing germline mutation(s) in | gene with protein product | 601288 |
| TCF4 | transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 602272 |
| CTNND2 | catenin delta 2 | Disease-causing germline mutation(s) in | gene with protein product | 604275 |
| KIRREL3 | kirre like nephrin family adhesion molecule 3 | Disease-causing germline mutation(s) in | gene with protein product | 607761 |
| DOCK8 | dedicator of cytokinesis 8 | Disease-causing germline mutation(s) in | gene with protein product | 611432 |
| MBD5 | methyl-CpG binding domain protein 5 | Disease-causing germline mutation(s) in | gene with protein product | 611472 |
| CDH15 | cadherin 15 | Disease-causing germline mutation(s) in | gene with protein product | 114019 |
| GRIN1 | glutamate ionotropic receptor NMDA type subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 138249 |
| DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 600112 |
| CACNG2 | calcium voltage-gated channel auxiliary subunit gamma 2 | Disease-causing germline mutation(s) in | gene with protein product | 602911 |
| EPB41L1 | erythrocyte membrane protein band 4.1 like 1 | Disease-causing germline mutation(s) in | gene with protein product | 602879 |
| EEF1A2 | eukaryotic translation elongation factor 1 alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 602959 |
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | Disease-causing germline mutation(s) in | gene with protein product | 114078 |
| CAMK2B | calcium/calmodulin dependent protein kinase II beta | Disease-causing germline mutation(s) in | gene with protein product | 607707 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)