SLC9A1, solute carrier family 9 member A1, 6548

N. diseases: 144; N. variants: 4
Disease: LICHTENSTEIN-KNORR SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 GeneticVariation disease UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 GeneticVariation disease BEFREE The main clinical feature was similar to Lichtenstein-Knorr syndrome but deafness may not be an essential phenotypic feature of SLC9A1 mutation. 30018422 2018
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 GermlineCausalMutation disease ORPHANET Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. 25205112 2015
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 GeneticVariation disease BEFREE Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. 25205112 2015
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 GeneticVariation disease UNIPROT Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. 25205112 2015
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 Biomarker disease CTD_human
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 CausalMutation disease CLINVAR
CUI: C4225383
Disease: LICHTENSTEIN-KNORR SYNDROME
LICHTENSTEIN-KNORR SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND