Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
HYPOTRICHOSIS	C0020678 MESH:D007039	CDH3	Causal	—	Disgenet
		DSG4	Unknown	—	Disgenet
		KRT71	Unknown	—	CTD Disgenet
		KRT74	Unknown	—	CTD
		LIPH	Unknown	23066499	CTD Disgenet
		LPAR6	Unknown	18297072	CTD Disgenet
		RPL21	Unknown	—	CTD Disgenet
		SNRPE	Unknown	—	CTD Disgenet
HYPOTRICHOSIS 1	605389 C4551976 MONDO:0011549	APCDD1	Causal	20393562 22512811	ClinVar Disgenet GWAS catalog HPO
		LPAR6	Unknown	—	Disgenet
		SNRPE	Unknown	—	Disgenet
HYPOTRICHOSIS 11	615059 C3554409 MONDO:0014027	SNRPE	Causal	23246290 9621144 36814386	ClinVar Disgenet GWAS catalog HPO
HYPOTRICHOSIS 12	615885 C4014563 MONDO:0014384	RPL21	Causal	21412954	ClinVar Disgenet GWAS catalog HPO
HYPOTRICHOSIS 13	615896 C4014616 MONDO:0014390	KRT71	Causal	—	ClinVar Disgenet GenCC HPO
HYPOTRICHOSIS 14	618275 C4748930 MONDO:0032649	LSS	Causal	—	ClinVar Disgenet GenCC HPO
HYPOTRICHOSIS 15	620177 C5774279 MONDO:0859341	C3ORF52	Causal	32336749 34309526	CTD ClinVar Disgenet HPO
HYPOTRICHOSIS 2	146520 MONDO:0007805 OMIM:146520	CDSN	Causal	12754508 16307662 20448140 23746069	CTD ClinVar GWAS catalog HPO
HYPOTRICHOSIS 3	613981 C3151432 MONDO:0013514	KRT74	Causal	21188418 24714551 20346438	ClinVar Disgenet HPO Orphanet
HYPOTRICHOSIS 4	146550 MONDO:0007806 MONDO:0100522	HRURF	Causal	19122663 20659777	ClinVar GWAS catalog HPO
HYPOTRICHOSIS 4	146550 MONDO:0007806 MONDO:0100522	HR	Unknown	12459250 19122663 19897589 20814945	GWAS catalog
HYPOTRICHOSIS 5	612841 C2748535 MESH:C567554 MONDO:0013017	EPS8L3	Unknown	23099647	CTD ClinVar Disgenet HPO
HYPOTRICHOSIS 6	607903 C1842839 MONDO:0011932	DSG4	Causal	17392831 16575393	ClinGen ClinVar Disgenet HPO
HYPOTRICHOSIS 7	604379 MONDO:0011452	LIPH	Causal	19536142 33988877 29464811	CTD ClinVar HPO
HYPOTRICHOSIS 8	C3279470 278150 MONDO:0010206	KRT25	Causal	—	Disgenet
		LPAR6	Causal	—	ClinVar Disgenet GenCC HPO
		RB1	Unknown	—	Disgenet
TOTAL HYPOTRICHOSIS, MARI TYPE	C1836672	LIPH	Unknown	—	Disgenet

Hypotrichosis