atherosclerosis ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Atherosclerosis, susceptibility to ClinVar PMID:15732116 more ... breast cancer ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 , PMID:28492532 CAKUT ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 combined oxidative phosphorylation deficiency ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:25741868 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:25058219 , PMID:25741868 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:25741868 , PMID:28492532 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:24808023 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:21549344 , PMID:24808023 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:21549344 more ... combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:28492532 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:25326637 more ... combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:30054184 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:24808023 more ... combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar diabetic angiopathy ISO RGD:1320170 8554872 ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY more ... ClinVar PMID:11978667 fetal erythroblastosis ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar genetic disease ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar genetic disease ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar PMID:25741868 genetic disease ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar PMID:32581362 genetic disease ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar PMID:21549344 more ... head and neck squamous cell carcinoma ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:22563501 more ... hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:21131976 , PMID:25741868 hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:11013442 more ... hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:25741868 , PMID:610060 hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:21131976 more ... hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:25741868 more ... hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:25741868 more ... hypomyelinating leukodystrophy 11 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukodystrophy more ... ClinVar PMID:25741868 JABERI-ELAHI SYNDROME ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Jaberi-Elahi syndrome ClinVar PMID:29449720 JABERI-ELAHI SYNDROME ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Jaberi-Elahi syndrome ClinVar PMID:25741868 , PMID:32860008 Lung Agenesis ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Pulmonary hypoplasia ClinVar PMID:21549344 more ... Lung Agenesis ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Pulmonary hypoplasia ClinVar PMID:25058219 , PMID:25741868 neurodegeneration with brain iron accumulation ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 primary ciliary dyskinesia ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 primary ciliary dyskinesia ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266 more ... primary ciliary dyskinesia ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24307375 , PMID:28492532 primary ciliary dyskinesia ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 , PMID:28492532 primary ciliary dyskinesia ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266 , PMID:28492532 primary ciliary dyskinesia ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19200523 more ... primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:19200523 , PMID:23993197 primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:24033266 , PMID:28492532 primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:24033266 more ... primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:25741868 , PMID:28492532 primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:25741868 primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:23993197 primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar PMID:28492532 primary ciliary dyskinesia 12 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Ciliary dyskinesia more ... ClinVar Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukoencephalopathy more ... ClinVar PMID:25741868 Progressive Leukoencephalopathy, with Ovarian Failure ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Leukoencephalopathy more ... ClinVar PMID:24808023 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:22563501 more ... Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:26467025 , PMID:28492532 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:21131976 , PMID:25741868 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:24942156 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive ClinVar PMID:26467025 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: POLR1C-Related Disorders ClinVar PMID:25741868 more ... Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive ClinVar PMID:11013442 more ... Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Mandibulofacial dysostosis more ... ClinVar PMID:21131976 more ... Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive ClinVar PMID:28492532 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Mandibulofacial dysostosis more ... ClinVar PMID:25741868 , PMID:610060 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Mandibulofacial dysostosis more ... ClinVar PMID:25741868 more ... Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive ClinVar Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive ClinVar PMID:25741868 Treacher Collins syndrome 3 ISO RGD:1320170 8554872 ClinVar Annotator: match by OMIM:248390 ClinVar PMID:21131976 xeroderma pigmentosum ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar xeroderma pigmentosum ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:17344931 more ... xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:25741868 , PMID:28492532 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:28492532 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:18703314 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:18368133 , PMID:26884178 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:25741868 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10385124 , PMID:18703314 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10398605 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:17344931 more ... xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:27004399 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:24130121 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10871396 , PMID:11121129 xeroderma pigmentosum variant type ISO RGD:1320170 8554872 ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:10871396 more ...