SF1, splicing factor 1, 7536

N. diseases: 20; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0022116
Disease: Ischemia
Ischemia 		0.200 Biomarker phenotype RGD ZFM1/SF1 mRNA in rat and gerbil brain after global ischaemia. 10103072 1999
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.040 GeneticVariation disease BEFREE The human SF1 gene is located on chromosome 11 close to the gene encoding Menin, recently identified as the gene responsible for multiple endocrine neoplasia-type 1 (MEN1). 9573336 1998
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.040 GeneticVariation disease BEFREE By differential screening of a cDNA library obtained from a GM-CSF-dependent human myeloid leukemia cell line (GF-D8), we identified two novel isoforms of the recently described ZNF162 gene, which is apparently linked to multiple endocrine neoplasia type 1. 9192847 1997
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.040 Biomarker disease BEFREE Thus, our results indicate that ZFM1 is excluded as a candidate gene for MEN1. 9150722 1997
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.040 GeneticVariation disease BEFREE These data suggest that ZFM1 might be a candidate for mutations that cause MEN1. 7912130 1994
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.030 GeneticVariation phenotype BEFREE In rare cases, sequence variants of the NR5A1/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency. 31831369 2019
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.030 GeneticVariation disease BEFREE In rare cases, sequence variants of the NR5A1/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency. 31831369 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.030 GeneticVariation phenotype BEFREE A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sex-reversed patient without adrenal insufficiency. 14689056 2004
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.030 GeneticVariation phenotype BEFREE Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. 15472171 2004
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.030 GeneticVariation disease BEFREE Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. 15472171 2004
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.030 GeneticVariation disease BEFREE A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sex-reversed patient without adrenal insufficiency. 14689056 2004
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE These data also present novel molecular mechanisms that may explain the loss of SF‑1 protein in ovarian tumors, and its potential role in ovarian carcinogenesis. 23291911 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 AlteredExpression phenotype BEFREE The expression of SF1 was found to be correlated with the differentiation status of intestinal epithelial cells and inversely correlated with tumorigenesis. 17383426 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE The Splicing Factor-1 (SF-1), which is critical for smooth muscle cell proliferation and phenotype switch, was found to be elevated in collaterals of DM mice. 31284541 2019
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE DAX1 and SF1 protein expression were assessed in 104 ACTs from 34 children (25 clinically benign and 9 malignant) and 70 adults (40 adenomas and 30 carcinomas). 25985323 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE DAX1 and SF1 protein expression were assessed in 104 ACTs from 34 children (25 clinically benign and 9 malignant) and 70 adults (40 adenomas and 30 carcinomas). 25985323 2015
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.010 GeneticVariation disease BEFREE Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias. 23729601 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 Biomarker disease BEFREE These data also present novel molecular mechanisms that may explain the loss of SF‑1 protein in ovarian tumors, and its potential role in ovarian carcinogenesis. 23291911 2013
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.010 GeneticVariation disease BEFREE Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias. 23729601 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 Biomarker disease BEFREE Finally, the SF-1 gene profile can be used to distinguish malignant from benign adrenocortical tumors, a finding that implicates SF-1 in the development of malignant adrenocortical carcinoma. 22427816 2012
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.010 GeneticVariation disease BEFREE Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 22907560 2012
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 GeneticVariation group BEFREE Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described. 20861607 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE SF-1 protein expression was assessed in a cohort of 103 adrenocortical tumors from 36 children and 67 adults, whereas gene amplification was studied in 38 adrenocortical tumors (17 from children). 20080844 2010
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 Biomarker disease BEFREE SF-1 protein staining was detectable in 158 of 161 (98%) evaluable ACC samples including 49 (30%) with strong SF-1 staining and in all normal and benign steroidogenic tissues. 20660055 2010