Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS	MESH:C565579	GLI2	Unknown	27585885	CTD
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS	MESH:C565579	SHH	Unknown	27585885	CTD
FACIAL DYSMORPHISM, DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION	C5190804	WAC	Unknown	—	Disgenet
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL DISABILITY/DEVELOPMENTAL DELAY, GINGIVAL OVERGROWTH SYNDROME	C5193066	KCNK4	Unknown	—	Disgenet
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME	618381 MONDO:0032714	KCNK4	Causal	30290154 37750049	CTD ClinGen ClinVar HPO
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	C3554576 615139 OMIM:615139	EXOC4	Unknown	—	Disgenet
	C3554576 615139 OMIM:615139	POLE	Unknown	—	CTD Disgenet HPO
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, SHORT STATURE SYNDROME	C4749948	POLE	Unknown	—	Disgenet
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO 10P11.21P12.31 MICRODELETION	284169	WAC	Unknown	21522184 26264232	Orphanet
FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION	466950 C5681129	WAC	Unknown	26264232	Disgenet Orphanet
FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY-HYPOTONIA-POLYMICROGYRIA SYNDROME	659609	RAC3	Unknown	35851598	Orphanet
FACIAL DYSMORPHISM-HYPERTRICHOSIS-EPILEPSY-INTELLECTUAL DISABILITY/DEVELOPMENTAL DELAY-GINGIVAL OVERGROWTH SYNDROME	Facial dysmorphism-hypertrichosis-epilepsy syndrome	KCNK4	Unknown	30290154	Orphanet
FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME	352712 MONDO:0014058	POLE	Causal	23230001 25948378 30503519	ClinVar GWAS catalog Orphanet
FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-RHOMBENCEPHALOSYNAPSIS SYNDROME	693549	MN1	Unknown	31834374 31839203 37575653	Orphanet
FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME	412022 MONDO:0011106	ASPH	Causal	24768550	ClinVar GWAS catalog Orphanet
FACIAL DYSMORPHISM-OCULAR ANOMALIES-OSTEOPENIA-INTELLECTUAL DISABILITY-DENTAL ANOMALIES SYNDROME	314555	IRX5	Unknown	22581230	Orphanet

Facial dysmorphism syndrome