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Situs ambiguus

ORPHA:157769Morphological anomalyMultigenic/multifactorialAntenatal

Ассоциированные гены (11)

PKD1L1
polycystin 1 like 1, transient receptor potential channel interacting
Disease-causing germline mutation(s) in
OMIM: 609721
ZIC3
Zic family zinc finger 3
Major susceptibility factor in
OMIM: 300265
ACVR2B
activin A receptor type 2B
Major susceptibility factor in
OMIM: 602730
LEFTY2
left-right determination factor 2
Major susceptibility factor in
OMIM: 601877
NODAL
nodal growth differentiation factor
Candidate gene tested in
OMIM: 601265
CFAP53
cilia and flagella associated protein 53
Disease-causing germline mutation(s) in
OMIM: 614759
MMP21
matrix metallopeptidase 21
Disease-causing germline mutation(s) (loss of function) in
OMIM: 608416
NODAL
nodal growth differentiation factor
Disease-causing germline mutation(s) in
OMIM: 601265
CIROP
ciliated left-right organizer metallopeptidase
Disease-causing germline mutation(s) in
OMIM: 619703
DNAH9
dynein axonemal heavy chain 9
Disease-causing germline mutation(s) (loss of function) in
OMIM: 603330
CFC1
cryptic, EGF-CFC family member 1
Candidate gene tested in
OMIM: 605194

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы