Exploration of Musculoskeletal Diseases

Gene	Chr	Protein function in the TGFβ/BMP pathway	Disease (manifestation)	References
TGFβ1	19	Encodes a ligand involved in the activation of the TGFβ pathway	CED (OMIM#131300)	[180]
ALK2/ACVR1	2	Encodes the type I BMP receptor	FOP (OMIM#135100)	[177]
LEMD3	12	Encodes a nuclear membrane protein that can inhibit the TGFβ pathway	Osteopoikilosis; Buschke-Ollendorff syndrome (OMIM#166700)	[190]

Gene

Chr

Protein function in the TGFβ/BMP pathway

Disease (manifestation)

References

TGFβ1

Encodes a ligand involved in the activation of the TGFβ pathway

CED (OMIM#131300)

ALK2/ACVR1

Encodes the type I BMP receptor

FOP (OMIM#135100)

LEMD3

Encodes a nuclear membrane protein that can inhibit the TGFβ pathway

Osteopoikilosis; Buschke-Ollendorff syndrome (OMIM#166700)