Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CNOT1 gene CNOT1 Expert review;Expert Review Amber Neonatal diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500;holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787 31006513;35481434;31006510 False 2 0;0;0 4.4 False Other ENSG00000125107 ENSG00000125107 HGNC:7877 FICD gene FICD Expert review;Expert Review Amber Neonatal diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes;Neonatal insulin-dependent diabetes mellitus, HP:0000857;severe neurodevelopmental delay, HP:0012758;skeletal abnormalities. False 2 0;0;0 4.4 False ENSG00000198855 ENSG00000198855 HGNC:18416 ONECUT1 gene ONECUT1 Expert review;Expert Review Amber Neonatal diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ONECUT1-associated neonatal diabetes;neonatal diabetes mellitus, MONDO:0016391 34663987 False 2 0;0;0 4.4 False ENSG00000169856 ENSG00000169856 HGNC:8138 PDIA6 gene PDIA6 Expert Review Amber;Literature Neonatal diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 4.4 False ENSG00000143870 ENSG00000143870 HGNC:30168