Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.600 GermlineModifyingMutation ORPHANET Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 21802064

2011
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.600 Biomarker CTD_human

Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker PSYGENET Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder. 22356824

2012
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker PSYGENET AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder. 21570127

2011
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.510 Biomarker CTD_human AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder. 21570127

2011
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0338831
Disease: Manic
Manic 		0.320 Biomarker CTD_human This study aimed to test whether a history of manic/hypomanic irritability is associated with low serum progesterone levels; and whether single nucleotide polymorphisms (SNPs) in gene coding for steroidogenetic enzymes (HSD3B2, SRD5A1 and AKR1C4 were coupled to previous manic irritability and/or with serum progesterone concentrations. 21570127

2011
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C1456784
Disease: Paranoia
Paranoia 		0.310 Biomarker CTD_human The haplotype of all 4 SNPs in the AKR1C4 gene reduced the risk of exhibiting paranoia by 80% (OR 0.19, 95% CI 0.06-0.61, p=0.05). 22356824

2012
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker PSYGENET Variation in genes encoding the neuroactive steroid synthetic enzymes 5α-reductase type 1 and 3α-reductase type 2 is associated with alcohol dependence. 21323680

2011
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		0.300 Biomarker CTD_human AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder. 21570127

2011
Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		0.300 Biomarker CTD_human AKR1C4 gene variant associated with low euthymic serum progesterone and a history of mood irritability in males with bipolar disorder. 21570127

2011