Disease: Semilobar Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.500 Biomarker disease CTD_human A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. 12073012 2002
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET