Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.700 GeneticVariation disease UNIPROT Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 21802064 2011
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.700 GermlineCausalMutation disease ORPHANET Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 21802064 2011
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.700 Biomarker disease CTD_human
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.700 CausalMutation disease CLINVAR
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.400 Biomarker disease CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.400 Biomarker disease HPO
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.310 Biomarker disease BEFREE Among the progestins that are currently used for treatment of endometriosis, dydrogesterone, medroxyprogesterone acetate and 20α-dihydrodydrogesterone act as AKR1C2 inhibitors with low μM K(i) values in vitro. 22245609 2012
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.310 Biomarker disease CTD_human Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis. 21232532 2011
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		0.300 Biomarker disease CTD_human Genes specifically modulated in sensitized skins allow the detection of sensitizers in a reconstructed human skin model. Development of the SENS-IS assay. 25724174 2015
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism 		0.300 Biomarker disease CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C0027661
Disease: Neoplasms, Hormone-Dependent
Neoplasms, Hormone-Dependent 		0.300 Biomarker phenotype CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.300 Biomarker disease CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		0.300 Biomarker group CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity 		0.300 Biomarker phenotype CTD_human Genes specifically modulated in sensitized skins allow the detection of sensitizers in a reconstructed human skin model. Development of the SENS-IS assay. 25724174 2015
CUI: C2930618
Disease: Intersex Conditions
Intersex Conditions 		0.300 Biomarker disease CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		0.300 Biomarker group CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C0043094
Disease: Weight Gain
Weight Gain 		0.300 Biomarker phenotype CTD_human Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period. 25322899 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.300 Biomarker disease CTD_human The expression of sex steroid synthesis and inactivation enzymes in subcutaneous adipose tissue of PCOS patients. 22381227 2012
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		0.300 Biomarker disease CTD_human The expression of sex steroid synthesis and inactivation enzymes in subcutaneous adipose tissue of PCOS patients. 22381227 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS. 21472284 2012
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis. 21232532 2011
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		0.300 Biomarker phenotype CTD_human Induction of neoplastic transformation by ectopic expression of human aldo-keto reductase 1C isoforms in NIH3T3 cells. 19696165 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009