TBC1D20, TBC1 domain family member 20, 128637

N. diseases: 79; N. variants: 4
Disease: WARBURG MICRO SYNDROME 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 Biomarker disease GENOMICS_ENGLAND Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 26063829 2015
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 GeneticVariation disease BEFREE Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibit cataracts and testicular phenotypes similar to those observed in WARBM4 patients. 25476608 2014
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381 2013
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381 2013
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 Biomarker disease MGD Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381 2013
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 Biomarker disease MGD Production of fertile offspring from genetically infertile male mice. 14757819 2004
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 CausalMutation disease CLINVAR
CUI: C3810265
Disease: WARBURG MICRO SYNDROME 4
WARBURG MICRO SYNDROME 4 		0.610 Biomarker disease GENOMICS_ENGLAND