Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar 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: C0431363
Disease: Alobar Holoprosencephaly
Alobar 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 Biomarker disease CTD_human A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. 12073012 2002
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.400 Biomarker disease CTD_human A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. 12073012 2002
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.400 Biomarker disease HPO
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		0.300 Biomarker disease CTD_human A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. 12073012 2002
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		0.300 Biomarker disease CTD_human Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
CUI: C0265357
Disease: Polysplenia Syndrome
Polysplenia Syndrome 		0.300 Biomarker disease CTD_human Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.300 Biomarker disease CTD_human Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.300 Biomarker disease CTD_human Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism 		0.300 Biomarker disease CTD_human Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
CUI: C3178807
Disease: Left Atrial Isomerism
Left Atrial Isomerism 		0.300 Biomarker disease CTD_human Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482 2000
CUI: C1861235
Disease: Forebrain Defects
Forebrain Defects 		0.110 GeneticVariation disease BEFREE A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. 12073012 2002
CUI: C1861235
Disease: Forebrain Defects
Forebrain Defects 		0.110 CausalMutation disease CLINVAR
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO