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 ABCD1 gene ABCD1 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Cerebral Adrenoleukodystrophy (CALD) False 3 100;0;0 0.9 False ENSG00000101986 ENSG00000101986 HGNC:61 ADA gene ADA ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Adenosine deaminase (ADA) deficiency False 3 100;0;0 0.9 False ENSG00000196839 ENSG00000196839 HGNC:186 ATP2A2 gene ATP2A2 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Chronic Heart Failure;Patients That Have Received a Left Ventricular Assist Device False 3 100;0;0 0.9 False ENSG00000174437 ENSG00000174437 HGNC:812 CFTR gene CFTR ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Cystic Fibrosis False 3 100;0;0 0.9 False ENSG00000001626 ENSG00000001626 HGNC:1884 CHM gene CHM ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Choroideraemia False 3 100;0;0 0.9 False ENSG00000188419 ENSG00000188419 HGNC:1940 CNGB3 gene CNGB3 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Achromatopsia False 3 100;0;0 0.9 False ENSG00000170289 ENSG00000170289 HGNC:2153 CYBB gene CYBB ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Granulomatous Disease, Chronic, X-linked False 3 100;0;0 0.9 False ENSG00000165168 ENSG00000165168 HGNC:2578 DMD gene DMD ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Duchenne Muscular Dystrophy False 3 100;0;0 0.9 False ENSG00000198947 ENSG00000198947 HGNC:2928 F8 gene F8 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Haemophilia A;Severe Haemophilia A False 3 100;0;0 0.9 False ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Hemophilia B False 3 100;0;0 0.9 False ENSG00000101981 ENSG00000101981 HGNC:3551 HBB gene HBB ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Beta-Thalassemia False 3 100;0;0 0.9 False ENSG00000244734 ENSG00000244734 HGNC:4827 IL2RG gene IL2RG ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information X-linked Severe Combined Immunodeficiency False 3 100;0;0 0.9 False ENSG00000147168 ENSG00000147168 HGNC:6010 MT-ND4 gene MT-ND4 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Optic, Atrophy, Hereditary, Leber False 3 100;0;0 0.9 False ENSG00000198886 ENSG00000198886 HGNC:7459 OTC gene OTC ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Late-Onset OTC Deficiency False 3 100;0;0 0.9 False ENSG00000036473 ENSG00000036473 HGNC:8512 RPE65 gene RPE65 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Leber Congenital Amaurosis;Leber Hereditary Optic Neuropathy;Eye Diseases;Eye Diseases, Hereditary;Retinal Diseases;Retinal Degeneration False 3 100;0;0 0.9 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information X-Linked Retinitis Pigmentosa False 3 100;0;0 0.9 False ENSG00000156313 ENSG00000156313 HGNC:10295 SMN1 gene SMN1 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Spinal Muscular Atrophy Type 1 False 3 100;0;0 0.9 False ENSG00000172062 ENSG00000172062 HGNC:11117 SMN2 gene SMN2 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information {Spinal muscular atrophy, type III, modifier of}, OMIM:253400 False 3 100;0;0 0.9 False ENSG00000205571 ENSG00000205571 HGNC:11118 SPINK5 gene SPINK5 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Netherton syndrome False 3 100;0;0 0.9 False ENSG00000133710 ENSG00000133710 HGNC:15464 UGT1A1 gene UGT1A1 ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Crigler-Najjar Syndrome False 3 100;0;0 0.9 False ENSG00000241635 ENSG00000241635 HGNC:12530 WAS gene WAS ClinicalTrials.gov;Expert Review Green Gene therapy clinical trials Clinical trials Actionable information Wiskott Aldrich syndrome False 3 100;0;0 0.9 False ENSG00000015285 ENSG00000015285 HGNC:12731