0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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50PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondriontricarboxylic acid cycle2-oxoglutarate metabolic processoxoglutarate dehydrogenase complexLeigh syndromeIsolated anophthalmia - microphthalmiamicrophthalmiaisolated microphthalmia 7
AI summary not yet available. Showing NCBI Gene summary.
alpha-ketoglutarate dehydrogenase subunit 4
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Leigh syndromeOpen Targets
Isolated anophthalmia - microphthalmiaOpen Targets
microphthalmiaOpen Targets
isolated microphthalmia 7Open Targets
nanophthalmiaOpen Targets
nanophthalmos 2Open Targets
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
microphthalmia, isolated, with colobomaOpen Targets
premature ovarian failure 12Open Targets
primary ovarian insufficiencyOpen Targets
Abnormality of the skeletal systemOpen Targets
microphthalmia, isolated, with coloboma 7Open Targets
microphthalmia, isolated, with coloboma 5Open Targets
microphthalmia, isolated, with coloboma 10Open Targets
Sensorineural hearing impairmentOpen Targets
ovarian dysfunctionOpen Targets
idiopathic pulmonary fibrosisOpen Targets
NM_033281.6(KGD4):c.296G>C (p.Arg99Pro)Likely pathogenic
Leigh syndrome
☆☆☆☆2025→ Residue 99
NM_033281.6(KGD4):c.42+1G>APathogenic
Leigh syndrome
☆☆☆☆2025