Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 24138066 2014
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 24138066 2014
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 GeneticVariation disease BEFREE We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene-dependent clinical variability. 22991235 2012
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene-dependent clinical variability. 22991235 2012
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene-dependent clinical variability. 22991235 2012
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 21835305 2011
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 GermlineCausalMutation disease ORPHANET Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 21835305 2011
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 GeneticVariation disease UNIPROT Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 21835305 2011
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 CausalMutation disease CLINVAR
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease CTD_human
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.310 GeneticVariation disease BEFREE Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 24138066 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.310 Biomarker disease GENOMICS_ENGLAND A syndrome of permanent neonatal diabetes along with primary microcephaly with simplified gyral pattern associated with severe infantile epileptic encephalopathy was recently described in two independent reports in which disease-causing homozygous mutations were identified in the immediate early response-3 interacting protein-1 (IER3IP1) gene. 24138066 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 24138066 2014
CUI: C4229700
Disease: Microcephaly (-3 to -9 SD)
Microcephaly (-3 to -9 SD) 		0.300 Biomarker phenotype GENOMICS_ENGLAND A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). 22991235 2012
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 GeneticVariation group BEFREE These results suggest that IER3IP1 suppression induces an increase in cell death and a decrease in cell proliferation in MIN6 cells, which may be the mechanism that mutations in IER3IP1 lead to diabetes. 28915629 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 GeneticVariation group BEFREE Identification of IER3IP1 mutations sheds light on the mechanisms of brain development and on the pathogenesis of infantile epilepsy and early-onset permanent diabetes. 21835305 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 Biomarker group HPO
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.100 CausalMutation disease CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO