eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| klinefelter syndrome | ||||
| Disease ID | 474 |
|---|---|
| Disease | klinefelter syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:37) C2697321 | melas syndrome C2364114 | tremor C1963120 | gynecomastia C1961102 | acute lymphoblastic leukemia C1863767 | m syndrome C1621958 | glioblastoma multiforme C1384582 | primary hypogonadism C1266158 | nonseminomatous germ cell tumor C0863027 | leydig cell tumor of the testis C0751265 | learning disabilities C0678222 | breast carcinoma C0600139 | prostate cancer C0342543 | central precocious puberty C0334518 | polyembryoma C0221233 | cyclic edema C0206660 | germinomas C0206660 | germinoma C0205851 | germ cell tumour C0205851 | germ cell tumors C0085119 | ulcus cruris C0043379 | xyy karyotype C0042341 | varicocele C0035412 | rhabdomyosarcoma C0034013 | sexual precocity C0034013 | precocious puberty C0033117 | priapism C0026987 | agnogenic myeloid metaplasia C0026267 | mitral valve prolapse C0024299 | malignant lymphoma C0023467 | acute myelocytic leukemia C0023223 | leg ulcers C0021359 | infertility C0020619 | hypogonadism C0019080 | hemorrhage C0011849 | diabetes mellitus C0005586 | bipolar disorder C0004352 | autism |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:22) C0003126 | anosmia | 6 C0021359 | infertility | 5 C0020619 | hypogonadism | 5 C0021359 | infertile | 4 C0034012 | delayed puberty | 3 C0024141 | systemic lupus erythematosus | 3 C0205851 | germ cell tumors | 2 C0011847 | diabetes | 2 C0040822 | tremor | 2 C0011849 | diabetes mellitus | 2 C0029456 | osteoporosis | 1 C0026267 | mitral valve prolapse | 1 C0023223 | leg ulcer | 1 C0034013 | precocious puberty | 1 C0004352 | autism | 1 C0023418 | leukemia | 1 C0023223 | leg ulcers | 1 C1863767 | m syndrome | 1 C0005586 | bipolar disorder | 1 C0342543 | central precocious puberty | 1 C0022735 | primary hypogonadism | 1 C0006142 | breast cancer | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:38) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893836 | 11397871 | 8406 | SRPX | umls:C0271623 | BeFree | In conclusion, we report the first naturally occurring mutation within the conserved DRS motif of the GnRH receptor in a female with complete HH and a novel compound heterozygous mutation (Asn(10)Lys and Gln(106)Arg) in a family with partial HH, increasing the repertoire of the inactivating mutations of the GnRH receptor. | 0.000271442 | 2001 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | 19449676 | 2798 | GNRHR | umls:C0271623 | BeFree | Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. | 0.1351248 | 2009 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | 23155690 | 2798 | GNRHR | umls:C0271623 | BeFree | Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. | 0.1351248 | 2012 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | 10999776 | 2798 | GNRHR | umls:C0271623 | BeFree | A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. | 0.1351248 | 2000 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | NA | 2798 | GNRHR | umls:C0271623 | CLINVAR | NA | 0.1351248 | NA | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | 19449676 | 2798 | GNRHR | umls:C0022735 | BeFree | Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. | 0.009771907 | 2009 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | 11397871 | 5411 | PNN | umls:C0271623 | BeFree | In conclusion, we report the first naturally occurring mutation within the conserved DRS motif of the GnRH receptor in a female with complete HH and a novel compound heterozygous mutation (Asn(10)Lys and Gln(106)Arg) in a family with partial HH, increasing the repertoire of the inactivating mutations of the GnRH receptor. | 0.000271442 | 2001 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893836 | 10999776 | 2798 | GNRHR | umls:C0022735 | BeFree | A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. | 0.009771907 | 2000 | GNRHR;LOC105377264 | 4 | 67754019 | T | C |
| rs104893837 | 23155690 | 2798 | GNRHR | umls:C0271623 | BeFree | Partially inactivating substitutions of the GnRHR frequently found in familial hypogonadotrophic hypogonadism are Q106R and R262Q. | 0.1351248 | 2012 | GNRHR | 4 | 67740682 | C | T |
| rs104893837 | 12477532 | 2798 | GNRHR | umls:C0271623 | BeFree | Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. | 0.1351248 | 2002 | GNRHR | 4 | 67740682 | C | T |
| rs104893837 | 12477532 | 2798 | GNRHR | umls:C0022735 | BeFree | Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. | 0.009771907 | 2002 | GNRHR | 4 | 67740682 | C | T |
| rs104893838 | 12477532 | 2798 | GNRHR | umls:C0022735 | BeFree | Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. | 0.009771907 | 2002 | GNRHR;LOC105377264 | 4 | 67753950 | G | T,C |
| rs104893838 | 12477532 | 2798 | GNRHR | umls:C0271623 | BeFree | Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. | 0.1351248 | 2002 | GNRHR;LOC105377264 | 4 | 67753950 | G | T,C |
| rs104893841 | 10999776 | 2798 | GNRHR | umls:C0022735 | BeFree | A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. | 0.009771907 | 2000 | GNRHR | 4 | 67740526 | A | T |
| rs104893841 | 10999776 | 2798 | GNRHR | umls:C0271623 | BeFree | A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. | 0.1351248 | 2000 | GNRHR | 4 | 67740526 | A | T |
| rs104893843 | 11397871 | 8406 | SRPX | umls:C0271623 | BeFree | In conclusion, we report the first naturally occurring mutation within the conserved DRS motif of the GnRH receptor in a female with complete HH and a novel compound heterozygous mutation (Asn(10)Lys and Gln(106)Arg) in a family with partial HH, increasing the repertoire of the inactivating mutations of the GnRH receptor. | 0.000271442 | 2001 | GNRHR | 4 | 67754306 | A | T |
| rs104893843 | 11397871 | 5411 | PNN | umls:C0271623 | BeFree | In conclusion, we report the first naturally occurring mutation within the conserved DRS motif of the GnRH receptor in a female with complete HH and a novel compound heterozygous mutation (Asn(10)Lys and Gln(106)Arg) in a family with partial HH, increasing the repertoire of the inactivating mutations of the GnRH receptor. | 0.000271442 | 2001 | GNRHR | 4 | 67754306 | A | T |
| rs104894701 | 14573733 | 84634 | KISS1R | umls:C0022735 | BeFree | The patient carrying the compound heterozygous mutations (R331X and X399R) had attenuated secretion of endogenous gonadotropin-releasing hormone and a left-shifted dose-response curve for gonadotropin-releasing hormone as compared with six patients who had idiopathic hypogonadotropic hypogonadism without GPR54 mutations. | 0.00434307 | 2003 | KISS1R | 19 | 920542 | C | T |
| rs104894702 | 14573733 | 84634 | KISS1R | umls:C0022735 | BeFree | The patient carrying the compound heterozygous mutations (R331X and X399R) had attenuated secretion of endogenous gonadotropin-releasing hormone and a left-shifted dose-response curve for gonadotropin-releasing hormone as compared with six patients who had idiopathic hypogonadotropic hypogonadism without GPR54 mutations. | 0.00434307 | 2003 | KISS1R | 19 | 920746 | T | A |
| rs104894703 | 17164310 | 84634 | KISS1R | umls:C0271623 | BeFree | Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. | 0.010238846 | 2007 | KISS1R | 19 | 918604 | T | C |
| rs104894897 | 11443184 | 190 | NR0B1 | umls:C0271623 | BeFree | All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism. | 0.018186605 | 2001 | NR0B1 | X | 30304676 | A | C |
| rs104894897 | 11443184 | 190 | NR0B1 | umls:C0022735 | BeFree | All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism. | 0.016557954 | 2001 | NR0B1 | X | 30304676 | A | C |
| rs141090506 | 22745195 | 128674 | PROKR2 | umls:C0271623 | BeFree | Our goal was to determine whether variants in the first intracellular loop (ICL1) of PROKR2 (R80C, R85C, and R85H) identified in patients with hypogonadotropic hypogonadism interfere with receptor function and to elucidate the mechanisms of these effects. | 0.002171535 | 2012 | PROKR2;FLJ33544 | 20 | 5314117 | G | A,C |
| rs141090506 | 22745195 | 128674 | PROKR2 | umls:C0022735 | BeFree | Our goal was to determine whether variants in the first intracellular loop (ICL1) of PROKR2 (R80C, R85C, and R85H) identified in patients with hypogonadotropic hypogonadism interfere with receptor function and to elucidate the mechanisms of these effects. | 0.001357209 | 2012 | PROKR2;FLJ33544 | 20 | 5314117 | G | A,C |
| rs148499544 | 19449676 | 2798 | GNRHR | umls:C0271623 | BeFree | Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. | 0.1351248 | 2009 | GNRHR | 4 | 67740670 | A | C |
| rs148499544 | 19449676 | 2798 | GNRHR | umls:C0022735 | BeFree | Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. | 0.009771907 | 2009 | GNRHR | 4 | 67740670 | A | C |
| rs267607165 | 25559402 | 10381 | TUBB3 | umls:C0271623 | BeFree | A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). | 0.000271442 | 2015 | TUBB3 | 16 | 89935679 | G | A |
| rs267607165 | 25559402 | 10381 | TUBB3 | umls:C0022735 | BeFree | A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). | 0.000271442 | 2015 | TUBB3 | 16 | 89935679 | G | A |
| rs28939719 | 18772143 | 84634 | KISS1R | umls:C0022735 | BeFree | A point mutation (L148S) in the second intracellular loop (IL2) of GPR54 causes idiopathic hypogonadotropic hypogonadism, a disorder characterized by delayed puberty and infertility. | 0.00434307 | 2008 | KISS1R | 19 | 919563 | T | C |
| rs28939719 | 18772143 | 84634 | KISS1R | umls:C0271623 | BeFree | A point mutation (L148S) in the second intracellular loop (IL2) of GPR54 causes idiopathic hypogonadotropic hypogonadism, a disorder characterized by delayed puberty and infertility. | 0.010238846 | 2008 | KISS1R | 19 | 919563 | T | C |
| rs369176613 | NA | 2798 | GNRHR | umls:C0271623 | CLINVAR | NA | 0.1351248 | NA | GNRHR | 4 | 67740661 | G | A |
| rs515726219 | NA | 2798 | GNRHR | umls:C0271623 | CLINVAR | NA | 0.1351248 | NA | GNRHR | 4 | 67754242 | T | C |
| rs515726220 | NA | 2798 | GNRHR | umls:C0271623 | CLINVAR | NA | 0.1351248 | NA | GNRHR | 4 | 67740625 | G | A |
| rs606231406 | NA | 2798 | GNRHR | umls:C0271623 | CLINVAR | NA | 0.1351248 | NA | GNRHR;LOC105377264 | 4 | 67753944 | A | G |
| rs74315418 | 22745195 | 128674 | PROKR2 | umls:C0271623 | BeFree | Our goal was to determine whether variants in the first intracellular loop (ICL1) of PROKR2 (R80C, R85C, and R85H) identified in patients with hypogonadotropic hypogonadism interfere with receptor function and to elucidate the mechanisms of these effects. | 0.002171535 | 2012 | PROKR2;FLJ33544 | 20 | 5314116 | C | T,A |
| rs74315418 | 22745195 | 128674 | PROKR2 | umls:C0022735 | BeFree | Our goal was to determine whether variants in the first intracellular loop (ICL1) of PROKR2 (R80C, R85C, and R85H) identified in patients with hypogonadotropic hypogonadism interfere with receptor function and to elucidate the mechanisms of these effects. | 0.001357209 | 2012 | PROKR2;FLJ33544 | 20 | 5314116 | C | T,A |
| rs74452732 | 12679486 | 2798 | GNRHR | umls:C0271623 | BeFree | Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. | 0.1351248 | 2003 | GNRHR;LOC105377264 | 4 | 67753825 | C | A,T |
| rs74452732 | 12679486 | 2798 | GNRHR | umls:C0022735 | BeFree | Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. | 0.009771907 | 2003 | GNRHR;LOC105377264 | 4 | 67753825 | C | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 474 |
|---|---|
| Disease | klinefelter syndrome |
| Case | (Waiting for update.) |