GDI1 Chromosome X
GDP dissociation inhibitor 1
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What This Gene Does
GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Inborn genetic diseases
Intellectual disability
X-linked 41
Immunodeficiency 47
Ovarian serous cystadenocarcinoma
Key Variants
RS1032352955
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138939602
Conflicting classifications of pathogenicity
Health Risk
RS140855833
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146653767
Conflicting classifications of pathogenicity
Health Risk
RS1557198307
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 41, Immunodeficiency 47
Health Risk
RS1569553475
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369835365
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781915148
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782477424
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1557198566
Likely pathogenic
Health Risk
RS1557198821
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2068750338
Likely pathogenic
Intellectual disability, X-linked 41, Intellectual disability
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1032352955 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138939602 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140855833 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146653767 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1557198307 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 41, Immunodeficiency 47 |
| RS1569553475 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369835365 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781915148 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782477424 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1557198566 | Health Risk | Likely pathogenic | — |
| RS1557198821 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2068750338 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS2148226455 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 41, Ovarian serous cystadenocarcinoma |
| RS2148228335 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS2523030418 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS121434608 | Health Risk | Pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS121434609 | Health Risk | Pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS2068755805 | Health Risk | Pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS2068757385 | Health Risk | Pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS2523033056 | Health Risk | Pathogenic | Intellectual disability, X-linked 41, Intellectual disability |
| RS398122814 | Health Risk | Pathogenic | Intellectual disability, X-linked 41, Intellectual disability |