GDF3, growth differentiation factor 3, 9573

N. diseases: 74; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 GeneticVariation disease UNIPROT Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.700 GeneticVariation disease UNIPROT Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 CausalMutation disease CLINVAR
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 Biomarker disease CTD_human
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.700 Biomarker disease CTD_human
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.700 CausalMutation disease CLINVAR
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.630 Biomarker disease BEFREE Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. 26238661 2015
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.630 Biomarker disease BEFREE Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of "CTD-negative" families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). 23620759 2013
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.630 GeneticVariation disease BEFREE Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6. 19864492 2010
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.630 GermlineCausalMutation disease ORPHANET Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6. 19864492 2010
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.630 Biomarker disease HPO
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 Biomarker disease CTD_human
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.320 AlteredExpression disease BEFREE Stem cell markers, OCT3/4, and more recently SOX2 and growth differentiation factor 3 (GDF3), have been reported to be expressed variably in germ cell tumors. 19396148 2009
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.320 Biomarker disease CTD_human Retinoic acid represses a cassette of candidate pluripotency chromosome 12p genes during induced loss of human embryonal carcinoma tumorigenicity. 16168501 2005
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		0.320 GeneticVariation disease BEFREE Notably, human STELLAR is located distal to a previously uncharacterized homeobox gene, which is the human homolog of the recently identified murine gene, Nanog, and proximal to the GDF3 locus, whose transcription is restricted to germ cell tumor cells. 14990856 2004
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		0.300 GermlineCausalMutation disease ORPHANET Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 19864492 2010