Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.600 Biomarker CTD_human Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 17726072

2007

Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.600 Biomarker GENOMICS_ENGLAND Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004

Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.600 Biomarker CTD_human Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004

Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.600 Biomarker GENOMICS_ENGLAND Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 14762184

2004

Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.600 Biomarker HPO

Entrez Id: 3814
Gene Symbol: KISS1
KISS1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.400 Biomarker CTD_human The testosterone-dependent and independent transcriptional networks in the hypothalamus of Gpr54 and Kiss1 knockout male mice are not fully equivalent. 21527035

2011

Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.400 Biomarker CTD_human The testosterone-dependent and independent transcriptional networks in the hypothalamus of Gpr54 and Kiss1 knockout male mice are not fully equivalent. 21527035

2011

Entrez Id: 3953
Gene Symbol: LEPR
LEPR
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.400 Biomarker CTD_human Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 17229951

2007

Entrez Id: 3814
Gene Symbol: KISS1
KISS1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.400 Biomarker HPO

Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.400 Biomarker HPO

Entrez Id: 3953
Gene Symbol: LEPR
LEPR
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.400 Biomarker HPO

Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.300 Biomarker CTD_human Segregated responses of mammary gland development and vaginal opening to prepubertal genistein exposure in Bscl2(-/-) female mice with lipodystrophy. 25462787

2015

Entrez Id: 1392
Gene Symbol: CRH
CRH
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.300 Biomarker CTD_human Corticotrophin-releasing factor alters the timing of puberty in the female rat. 20002962

2010

Entrez Id: 3972
Gene Symbol: LHB
LHB
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.300 Biomarker CTD_human Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. 15602022

2004

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.110 GeneticVariation LHGDN Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. 15613419

2005

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.110 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.110 Biomarker HPO

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO

Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO

Entrez Id: 6218
Gene Symbol: RPS17
RPS17
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO

Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO

Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO

Entrez Id: 51339
Gene Symbol: DACT1
DACT1
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker HPO