FEZF1, FEZ family zinc finger 1, 389549

N. diseases: 73; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014988
Disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Mutations in FEZF1 cause Kallmann syndrome. 25192046 2014
CUI: C4014988
Disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in FEZF1 cause Kallmann syndrome. 25192046 2014
CUI: C4014988
Disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in FEZF1 cause Kallmann syndrome. 25192046 2014
CUI: C4014988
Disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease CTD_human
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Mutations in FEZF1 cause Kallmann syndrome. 25192046 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GeneticVariation disease BEFREE Mutations in FEZF1 cause Kallmann syndrome. 25192046 2014
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: C0020619
Disease: Hypogonadism
Hypogonadism 		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
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO