Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.130 GeneticVariation disease BEFREE Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. 1971035 1990
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.130 GeneticVariation disease BEFREE Thus a deletion in one allele of the insulin receptor gene may be at least partly responsible for some instances of insulin-resistant diabetes. 2544997 1989
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.130 GeneticVariation disease BEFREE A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. 2573522 1989
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.130 Biomarker disease HPO
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.130 CausalMutation disease CLINVAR
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
0.110 GeneticVariation disease BEFREE In this paper we describe a female patient with partial lipodystrophy (affecting limb, femorogluteal and subcutaneous abdominal fat), white adipocytes with multiloculated lipid droplets and insulin-resistant diabetes, who was found to be homozygous for a premature truncation mutation in the lipid droplet protein cell death-inducing Dffa-like effector C (CIDEC) (E186X). 20049731 2009
Entrez Id: 208
Gene Symbol: AKT2
AKT2
0.110 GeneticVariation disease BEFREE We previously reported a family in which a heterozygous missense mutation in Akt2 led to a dominantly inherited syndrome of insulin-resistant diabetes and partial lipodystrophy. 17327441 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.110 Biomarker disease BEFREE Rare mutations in LMNA were shown to cause familial partial lipodystrophy, a syndrome characterized by regional loss of adipose tissue, glucose intolerance, and dyslipidemia, making LMNA a candidate gene for insulin-resistant diabetes. 12145775 2002
Entrez Id: 208
Gene Symbol: AKT2
AKT2
0.110 Biomarker disease HPO
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.110 Biomarker disease HPO
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
0.110 Biomarker disease HPO
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
0.100 Biomarker disease HPO
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
0.100 Biomarker disease HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
0.100 Biomarker disease HPO
Entrez Id: 3991
Gene Symbol: LIPE
LIPE
0.100 Biomarker disease HPO
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3
0.100 Biomarker disease HPO
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
0.100 Biomarker disease HPO
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.100 Biomarker disease HPO
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
0.100 Biomarker disease HPO
Entrez Id: 286053
Gene Symbol: NSMCE2
NSMCE2
0.100 Biomarker disease HPO
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.100 Biomarker disease HPO
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
0.100 Biomarker disease HPO
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.020 Biomarker disease BEFREE Besides this salutary actions, GH and its derived peptide insulin-like growth factor-I (IGF-I), main product of the GH/GHR interaction, have been implicated in the genesis of diseases such as cancer and insulin-resistant diabetes. 29395968 2018
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.020 Biomarker disease BEFREE Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship. 22170795 2012
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.010 Biomarker disease BEFREE Besides this salutary actions, GH and its derived peptide insulin-like growth factor-I (IGF-I), main product of the GH/GHR interaction, have been implicated in the genesis of diseases such as cancer and insulin-resistant diabetes. 29395968 2018