Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT OSTEOPETROSIS 1	MONDO:0011877	LRP5	Causal	—	ClinVar GenCC
AUTOSOMAL DOMINANT OSTEOPETROSIS 2	MONDO:0008156	CLCN7	Causal	11741829 21947783 21962762 28942122 30229577 30942407 36051116	ClinGen ClinVar GWAS catalog
AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1	2783	LRP5	Unknown	12579474 21600326	Orphanet
AUTOSOMAL RECESSIVE OSTEOPETROSIS	C4272578 MONDO:0019026	TCIRG1	Causal	—	Disgenet GenCC
		CLCN7	Unknown	22419446 20424301 20301306 23877423	Disgenet GWAS catalog
		SNX10	Unknown	22499339 23877423	Disgenet
		TNFSF11	Unknown	17632511 23877423	Disgenet
AUTOSOMAL RECESSIVE OSTEOPETROSIS 1	MONDO:0009815	TCIRG1	Causal	10581033 10709991 10888887 11532986 15231021 19448635 34545712	ClinGen ClinVar GWAS catalog
AUTOSOMAL RECESSIVE OSTEOPETROSIS 2	MONDO:0009816	TNFSF11	Causal	10984520 17632511 22068587 22664871 23762088 32850393 34056870 39011244 9568710	ClinGen ClinVar Disgenet
AUTOSOMAL RECESSIVE OSTEOPETROSIS 3	MONDO:0009818	CA2	Unknown	12566520 1301935 8127074 5041390	ClinGen Orphanet
AUTOSOMAL RECESSIVE OSTEOPETROSIS 4	MONDO:0012676	CLCN7	Causal	11207362 11741829 17033731	ClinGen ClinVar GWAS catalog
AUTOSOMAL RECESSIVE OSTEOPETROSIS 5	MONDO:0009817	OSTM1	Causal	12627228 15108279 16525474 16813530 17400532 17922613 18296023 23772242	ClinGen ClinVar Disgenet
AUTOSOMAL RECESSIVE OSTEOPETROSIS 6	MONDO:0012679	PLEKHM1	Causal	17404618 27777970	ClinGen ClinVar GWAS catalog
		CLCN7	Unknown	12522560 20301306	GWAS catalog
		TCIRG1	Unknown	24535816 25829125	GWAS catalog
AUTOSOMAL RECESSIVE OSTEOPETROSIS 7	MONDO:0012859	TNFRSF11A	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE OSTEOPETROSIS 8	MONDO:0014040	SNX10	Causal	22174188 22499339 23123320 23280965 25212774 25811986 27187610 27391121 28592808 29090071 29620724 30977576 32278070 33678645 36526684 36703223	CTD ClinGen ClinVar
INTERMEDIATE OSTEOPETROSIS	210110	CLCN7	Unknown	12522560 20301306	Orphanet
		PLEKHM1	Unknown	17404618	Orphanet
		TCIRG1	Unknown	24535816 25829125	Orphanet
OSTEOPETROSIS	C0029454 MONDO:0017198 MESH:D010022	CA2	Causal	—	Disgenet
		OSTM1	Causal	—	Disgenet
		TCIRG1	Causal	—	Disgenet
		CCDC120	Unknown	—	Disgenet GenCC
		CD36	Unknown	—	Disgenet
		CLCN7	Unknown	—	CTD Disgenet
		FERMT3	Unknown	18278053	CTD Disgenet
		NUP160	Unknown	—	Disgenet
		PLEKHM1	Unknown	—	Disgenet
		RASGRP2	Unknown	—	Disgenet GenCC
		SLC4A2	Unknown	—	Disgenet
		SNX10	Unknown	—	Disgenet
		TNFRSF11A	Unknown	—	Disgenet
		TNFSF11	Unknown	17632511	CTD Disgenet
OSTEOPETROSIS - INTERMEDIATE TYPE	C0432261	CLCN7	Unknown	—	Disgenet
		PLEKHM1	Unknown	—	Disgenet
		TCIRG1	Unknown	—	Disgenet
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY	C1838258	OSTM1	Unknown	—	Disgenet
OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 2	C3179239	CLCN7	Unknown	—	Disgenet
OSTEOPETROSIS HYPOGAMMAGLOBULINEMIA SYNDROME	C4751205	TNFRSF11A	Unknown	—	Disgenet
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS	2785 MESH:C536058	CA2	Causal	—	CTD ClinVar Orphanet
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	C1843330 607634	CLCNKB	Unknown	—	Disgenet
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	C1843330 607634	LRP5	Unknown	—	Disgenet HPO
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	166600	CLCN7	Unknown	—	HPO
OSTEOPETROSIS, AUTOSOMAL DOMINANT 3	618107 C4748197 MONDO:0020848	PLEKHM1	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	C1850127 259700 MESH:C564915	PLEKHM1	Unknown	—	Disgenet
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	C1850127 259700 MESH:C564915	TCIRG1	Unknown	—	CTD Disgenet HPO
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	259710 OMIM:259710	TNFSF11	Unknown	—	CTD HPO
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	259730 C0345407	CA2	Unknown	—	Disgenet HPO
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	611490 C1969106 MESH:C566933	CLCN7	Unknown	—	CTD Disgenet HPO

Osteopetrosis