Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 Biomarker disease GENOMICS_ENGLAND Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 21700882 2011
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 CausalMutation disease CLINVAR
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 Biomarker disease CTD_human
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.300 Biomarker disease CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.300 Biomarker disease CTD_human
CUI: C0003126
Disease: Anosmia
Anosmia 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO