Tubulointerstitial kidney disease | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE	C4511620	APOA4	Unknown	—	Disgenet	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +1 more
		HNF1B	Unknown	—	Disgenet	Maturity onset diabetes of the young
		MUC1	Unknown	—	Disgenet	Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) Defective GALNT12 causes colorectal cancer 1 (CRCS1) +4 more
		REN	Unknown	—	Disgenet	Renin-angiotensin system Renin secretion Diabetic cardiomyopathy +1 more
		SEC61A1	Unknown	—	Disgenet	Protein export Protein processing in endoplasmic reticulum Phagosome +1 more
		SEC63	Unknown	—	Disgenet	Protein export Protein processing in endoplasmic reticulum
		UMOD	Unknown	—	Disgenet	Asparagine N-linked glycosylation
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 1	162000 OMIM:162000	UMOD	Unknown	—	CTD, HPO	Asparagine N-linked glycosylation
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 2	174000	MUC1	Unknown	—	HPO	Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) Defective GALNT12 causes colorectal cancer 1 (CRCS1) +4 more
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4	613092	REN	Unknown	—	HPO	Renin-angiotensin system Renin secretion Diabetic cardiomyopathy +1 more
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 5	617056 OMIM:617056	SEC61A1	Unknown	—	CTD, HPO	Protein export Protein processing in endoplasmic reticulum Phagosome +1 more
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 6	621106 MONDO:0976234	APOA4	Unknown	—	ClinVar, HPO	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +1 more
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2	MONDO:0020726	MUC1	Causal	23396133 29156055 29967284 31348885 31509055 32450155	ClinGen, ClinVar, Disgenet	Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) Defective GALNT12 causes colorectal cancer 1 (CRCS1) +4 more
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5	C4310741	ABCG5	Unknown	—	Disgenet	ABC transporters Fat digestion and absorption Bile secretion +5 more
		RUVBL1	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Wnt signaling pathway Telomere Extension By Telomerase +5 more
		SEC61A1	Unknown	—	Disgenet	Protein export Protein processing in endoplasmic reticulum Phagosome +1 more