Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	C5548212	BICD2	Unknown	—	Disgenet
		DYNC1H1	Unknown	—	Disgenet
		FIG4	Unknown	—	Disgenet
		GARS1	Unknown	—	Disgenet
		HSPB8	Unknown	—	Disgenet
		IGHMBP2	Unknown	—	Disgenet
		LMNA	Unknown	—	Disgenet
		MORC2	Unknown	—	Disgenet
		NEFL	Unknown	—	Disgenet
		SETX	Unknown	—	Disgenet
		TRPV4	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY	C5548369	COL6A3	Unknown	—	Disgenet
DISTAL HEREDITARY MOTOR NEUROPATHY	MONDO:0018894	BAG3	Unknown	—	GenCC
		BSCL2	Unknown	15242882 15732094 17486577 18585921 19323790 21750110 23142943 23470542 23553728 24604904 25832430 26815532 32108980 32489946	ClinGen GWAS catalog
		FBXO38	Unknown	24207122 34103343	ClinGen GWAS catalog
		SETX	Unknown	12023320 15106121 16644229 21438761 22088787 22577233 25802885 29395064 29725819 30052327 30528841 31957062 34922620 9497266	ClinGen GWAS catalog
		WARS1	Unknown	27094857 31069783 31321409 28369220	ClinGen GWAS catalog
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2	139525 MONDO:0015352	FBXO38	Causal	24207122	ClinGen Orphanet
		HSPB1	Causal	15122254	CTD Orphanet
		HSPB3	Unknown	20142617	HPO Orphanet
		HSPB8	Unknown	15122253	ClinVar Orphanet
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5	139536	BSCL2	Unknown	14981520	Orphanet
		GARS1	Unknown	12690580 20301420	Orphanet
		REEP1	Unknown	22703882	Orphanet
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 7	139589 C4749653 MONDO:0015355	DCTN1	Unknown	12627231	Disgenet GWAS catalog Orphanet
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 7	139589 C4749653 MONDO:0015355	SLC5A7	Unknown	23141292	Disgenet Orphanet
DISTAL HEREDITARY MOTOR NEUROPATHY, JERASH TYPE	139552	SIGMAR1	Unknown	26078401	Orphanet
DISTAL HEREDITARY MOTOR NEUROPATHY, TYPE II	C3711384	FBXO38	Unknown	—	Disgenet
		HSPB1	Unknown	—	Disgenet
		HSPB3	Unknown	—	Disgenet
		HSPB8	Unknown	—	Disgenet
		MPZ	Unknown	—	Disgenet
NEURONOPATHY, DISTAL HEREDITARY MOTOR	MONDO:0000075	DYNC1H1	Unknown	21820100 22459677 22847149 24307404 25484024 25512093 25609763 26846447 28193117 29306600 30122514 36218033 36882741	Disgenet
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT	MONDO:0015362	HSPB8	Unknown	14594798 15122253 15565283 15879436 18006506 20538880 23796487 23825401 26718575 28144995 28780615	ClinGen ClinVar
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10	620080 C5774234 MONDO:0859300	EMILIN1	Causal	26462740 26920215 31978608	ClinVar Disgenet HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11	620528 C5882697 MONDO:0957875	SPTAN1	Causal	20493457 22258530 31332438 32811770 33578420 36331550	ClinVar Disgenet HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12	C3553656 614751	BICD2	Unknown	—	Disgenet
	C3553656 614751	REEP1	Unknown	—	Disgenet HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13	619112 C5436838	BSCL2	Unknown	—	Disgenet HPO
	619112 C5436838	GNG3	Unknown	—	Disgenet
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14	607641	DCTN1	Unknown	—	HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 15	621094 MONDO:0976226	BAG3	Unknown	—	ClinVar HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2	158590	HSPB8	Unknown	—	HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3	608634	HSPB1	Unknown	—	HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4	613376 C3150619 OMIM:613376	HSPB3	Unknown	—	CTD Disgenet HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4	613376 C3150619 OMIM:613376	IGHMBP2	Unknown	—	Disgenet
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5	600794	GARS1	Unknown	—	HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6	615575 OMIM:615575	FBXO38	Unknown	—	CTD HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7	158580	SLC5A7	Unknown	—	HPO
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8	600175 MONDO:0010839	TRPV4	Causal	24830047 22526352	ClinVar HPO

Distal hereditary motor neuropathy