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 ABCB6 gene ABCB6 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Microphthalmia, isolated, with coloboma 7, 614497 False 1 0;0;100 1.57 False ENSG00000115657 ENSG00000115657 HGNC:47 B3GLCT gene B3GLCT Emory Genetics Laboratory Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000187676 ENSG00000187676 HGNC:20207 BMPR1A gene BMPR1A UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000107779 ENSG00000107779 HGNC:1076 CYP1B1 gene CYP1B1 Emory Genetics Laboratory Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000138061 ENSG00000138061 HGNC:2597 DDB1 gene DDB1 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000167986 ENSG00000167986 HGNC:2717 DDB2 gene DDB2 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000134574 ENSG00000134574 HGNC:2718 ERCC1 gene ERCC1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 False 1 0;0;100 1.57 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 False 1 0;0;100 1.57 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal Syndrome;Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980 False 1 0;0;100 1.57 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000049167 ENSG00000049167 HGNC:3439 GDF3 gene GDF3 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Klippel-Feil syndrome 3, autosomal dominant, 613702 False 1 0;0;100 1.57 False ENSG00000184344 ENSG00000184344 HGNC:4218 GDF6 gene GDF6 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Klippel-Feil syndrome 1, autosomal dominant, 118100 False 1 0;0;100 1.57 False ENSG00000156466 ENSG00000156466 HGNC:4221 GTF2H5 gene GTF2H5 UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000272047 ENSG00000272047 HGNC:21157 HDAC6 gene HDAC6 Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863 False 1 0;0;0 1.57 False ENSG00000094631 ENSG00000094631 HGNC:14064 MPLKIP gene MPLKIP UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000168303 ENSG00000168303 HGNC:16002 PITX3 gene PITX3 Emory Genetics Laboratory Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000107859 ENSG00000107859 HGNC:9006 POLH gene POLH UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000170734 ENSG00000170734 HGNC:9181 VAX1 gene VAX1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders Microphthalmia, syndromic 11, 614402 False 1 0;0;100 1.57 True ENSG00000148704 ENSG00000148704 HGNC:12660 XPA gene XPA UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC UKGTN Anophthalmia or microphthalmia Ocular malformations Ophthalmological disorders False 1 0;0;100 1.57 False ENSG00000154767 ENSG00000154767 HGNC:12816