Moyamoya disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MOYAMOYA DISEASE |
MONDO_0016820C0026654
|
STAC2 | Unknown | GWAS catalog | |
| STK33 | Unknown | GWAS catalog | |||
| SUGCT | Unknown | GWAS catalog | |||
| TCN2 | Unknown | GWAS catalog | |||
| TIMP2 | Unknown | — | Disgenet | ||
| TMEM170A | Unknown | GWAS catalog | |||
| TSC22D2 | Unknown | GWAS catalog | |||
| TWIST1 | Unknown | GWAS catalog | |||
| WNT9A | Unknown | GWAS catalog | |||
| ZBTB40 | Unknown | GWAS catalog | |||
| ZNF385D | Unknown | GWAS catalog | |||
| MOYAMOYA DISEASE 1 | GUCY1A1 | Causal | — | Disgenet | |
| RNF213 | Unknown | — | Disgenet | ||
| MOYAMOYA DISEASE 2 | RNF213 | Causal | — | CTD ClinVar Disgenet GenCC | |
| ENG | Unknown | — | Disgenet | ||
| MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM | BRCC3 | Unknown | — | Disgenet | |
| MOYAMOYA DISEASE 5 | ACTA2 | Causal | — | CTD ClinVar Disgenet GenCC HPO | |
| MOYAMOYA DISEASE 6 WITH ACHALASIA | GUCY1A1 | Unknown | — | Disgenet | |
| MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA | GUCY1A1 | Unknown | — | CTD Disgenet HPO | |
| MOYAMOYA DISEASE 7 | ANO1 | Causal | — | ClinVar Disgenet GenCC HPO | |
| MOYAMOYA DISEASE WITH EARLY ONSET ACHALASIA | GUCY1A1 | Unknown | — | Disgenet | |
| MOYAMOYA DISEASE WITH EARLY-ONSET ACHALASIA | GUCY1A1 | Causal | ClinVar GenCC Orphanet |