Renal carnitine transport defect

Disease Term Disease ID Gene Symbol Classification References Source
Renal carnitine transport defect C0342788 SLC22A5 Causal Pathogenic evidence from ClinVar 2216472, 2235122, 3974805, 9685390, 9700600, 9837751, 9916797, 10051646, 10072434, 10425211, 10480371, 10545605, 10559218, 10612840, 10679939, 11058897, 11715001, 12183691, 12204000, 12210323, 12408185, 12409266, 14605509, 14665638, 15303004, 15523054, 15617188, 15714519, 16652335, 16830263, 16931768, 17126586, 17594400, 17703373, 19208393, 19238580, 20027113, 20074989, 20208395, 20574985, 21126579, 21864509, 21922592, 22116472, 22989098, 23090741, 23379544, 23430798, 23430858, 23430869, 23520115, 23653224, 23798014, 23963628, 24516753, 24746540, 24997454, 25132046, 25525159, 25665836, 25846890, 25929793, 26190315, 26252091, 26589311, 26828774, 27896095, 27931018, 28711408, 28753539, 28841266, 29198778, 29790872, 30609409 ClinVar
CACNA1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29697308 -
MIR3936HG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2235122, 9916797, 11715001, 12210323, 15714519, 16652335, 16830263, 16931768, 17126586, 20027113, 20074989, 20574985, 21126579, 21922592, 23379544, 23430798, 23430858, 23520115, 23653224, 23963628, 25132046, 25665836, 25846890, 26828774, 27896095, 28841266 -