Branchiootorenal syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BRANCHIO-OTO-RENAL SYNDROME	C0265234 MESH:D019280 MONDO:0007029	CLRN1	Unknown	—	Disgenet	—
		EYA1	Unknown	10072433 11734542 12834866 14628042 18220287 19206155 19951260	CTD, ClinGen, Disgenet	Transcriptional misregulation in cancer Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		PAX1	Unknown	—	Disgenet	—
		SIX1	Unknown	10512683 19726885 7720577 15141091 10777717 14704789 19389353 19726883 17637804 9770533 10773454 21700001 8617500 18330911 16670092 12368906 15226428 22267199 11262400 12843324 14628042 11734542	CTD, ClinGen, Disgenet, GenCC	Transcriptional misregulation in cancer
		SIX5	Unknown	20301554	CTD, ClinGen, Disgenet, GWAS catalog	—
		TFAP2A	Unknown	19685247	CTD, Disgenet	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors Negative regulation of activity of TFAP2 (AP-2) family transcription factors TFAP2 (AP-2) family regulates transcription of other transcription factors +4 more
		TJP2	Unknown	—	Disgenet	Tight junction Vibrio cholerae infection Signaling by Hippo +1 more
BRANCHIOOTORENAL SPECTRUM DISORDERS		EYA1	Unknown	—	ClinVar	Transcriptional misregulation in cancer Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		SIX1	Unknown	—	ClinVar	Transcriptional misregulation in cancer
		SIX5	Unknown	—	ClinVar	—
BRANCHIOOTORENAL SYNDROME 1	113650 C4551702 MONDO:0007236	EYA1	Causal	10655545 9020840 9361030 19206155 5365063 16441263	CTD, ClinVar, Disgenet, HPO	Transcriptional misregulation in cancer Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
BRANCHIOOTORENAL SYNDROME 1	113650 C4551702 MONDO:0007236	SIX1	Causal	—	ClinVar, Disgenet, HPO	Transcriptional misregulation in cancer
BRANCHIOOTORENAL SYNDROME 2	610896 C1970479 MONDO:0012575	SIX5	Causal	17357085	ClinVar, Disgenet, GWAS catalog, HPO	—