Disease Term Disease ID Gene Symbol Classification References Source
Glucose-6-phosphate transport defect C0268146 SLC37A4 Causal Pathogenic evidence from ClinVar 9428641, 9675154, 9758626, 9781688, 9856496, 10026167, 10323254, 10482875, 10482962, 10518030, 10874322, 10923042, 10931421, 10940311, 11071391, 11949931, 12373566, 12409273, 12444104, 15059622, 15260472, 15669677, 15757503, 15906092, 15953877, 17307551, 18337460, 18437526, 18835800, 18996862, 19454374, 19579760, 20386986, 21575371, 21629566, 22899091, 24565827, 24646511, 24745989, 25356975, 25982172, 26913919, 27066451, 27604308, 28224773 ClinVar
RMRP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2328993 -
TRAPPC4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9758626, 10026167, 10323254, 10923042, 10940311, 12444104, 15953877, 18835800, 22899091, 24646511, 26913919, 28224773 -