MCID: 46X071
MIFTS: 32

46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

MalaCards integrated aliases for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

Name: 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA443090

Summaries for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

MalaCards based summary : 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect is related to spindle cell intraocular melanoma and transverse colon cancer. An important gene associated with 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect is EPCAM (Epithelial Cell Adhesion Molecule), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Diseases in the Disorders of Sexual Development family:

46, Xy Disorders of Sexual Development 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Diseases related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 spindle cell intraocular melanoma 10.0 PMS2 MLH1
2 transverse colon cancer 10.0 PMS2 MLH1
3 colorectal cancer, hereditary nonpolyposis, type 4 10.0 PMS2 MLH1
4 familial colorectal cancer 9.9 MSH2 MLH1
5 ascending colon cancer 9.9 MSH2 MLH1
6 lower lip cancer 9.9 MSH2 MLH1
7 anal fistula 9.9 MSH2 MLH1
8 melanocytic nevus syndrome, congenital 9.9 MSH2 MLH1
9 ureter, cancer of 9.9 MSH2 MLH1
10 uterine body mixed cancer 9.9 MSH2 MLH1
11 polyposis syndrome, hereditary mixed, 1 9.8 MSH2 MLH1
12 signet ring cell adenocarcinoma 9.8 MSH2 MLH1
13 keratoacanthoma 9.8 MSH2 MLH1
14 periampullary adenoma 9.8 PMS2 MSH6
15 lymphangioma 9.7 MSH2 MLH1
16 fallopian tube endometrioid adenocarcinoma 9.7 PMS2 MSH6
17 alveolar soft part sarcoma 9.7 MSH2 MLH1
18 esophageal tuberculosis 9.7 PMS2 MSH6
19 attenuated familial adenomatous polyposis 9.7 MSH6 MSH2
20 skin melanoma 9.7 PMS2 MLH1
21 colorectal adenoma 9.7 MSH2 MLH1
22 legius syndrome 9.6 MSH6 MSH2
23 b-lymphoblastic leukemia/lymphoma 9.6 MSH6 MSH2
24 bilateral breast cancer 9.6 MSH6 MLH1
25 rectum signet ring adenocarcinoma 9.6 PMS2 MSH2 MLH1
26 jejunal adenocarcinoma 9.4 PMS2 MSH6 MLH1
27 adenoma 9.4 MSH6 MSH2 MLH1
28 renal pelvis transitional cell carcinoma 9.4 MSH6 MSH2 MLH1
29 autosomal dominant non-syndromic intellectual disability 8 9.3 MSH6 MSH2 MLH1
30 endometrioid ovary carcinoma 9.3 MSH6 MSH2 MLH1
31 esophagus sarcoma 9.3 PMS2 MSH6 MSH2
32 breast-ovarian cancer, familial 1 9.3 MSH6 MSH2 MLH1
33 cecum carcinoma 9.3 MSH6 MSH2 MLH1
34 skin benign neoplasm 9.3 MSH6 MSH2 MLH1
35 cowden syndrome 1 9.3 MSH6 MSH2
36 endometrial hyperplasia 9.3 MSH6 MSH2 MLH1
37 gastrointestinal system benign neoplasm 9.3 MSH6 MSH2 MLH1
38 rectum cancer 9.3 MSH6 MSH2 MLH1
39 ulcerative colitis 9.3 MSH6 MSH2 MLH1
40 colitis 9.3 MSH6 MSH2 MLH1
41 lymphoma 9.2 PMS2 MSH6 MSH2
42 rhabdomyosarcoma 9.2 PMS2 MSH6 MSH2
43 xeroderma pigmentosum, variant type 9.2 MSH6 MSH2 MLH1
44 ocular cancer 9.2 MSH6 MSH2
45 brain cancer 9.1 PMS2 MSH6 MSH2
46 colon adenocarcinoma 9.0 PMS2 MSH6 MLH1 EPCAM
47 adenocarcinoma 9.0 MSH6 MSH2 MLH1 EPCAM
48 extrahepatic bile duct adenoma 9.0 PMS2 MSH6 MSH2 MLH1
49 adenosquamous colon carcinoma 9.0 PMS2 MSH6 MSH2 MLH1
50 appendix carcinoid tumor 9.0 PMS2 MSH6 MSH2 MLH1

Graphical network of the top 20 diseases related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:



Diseases related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Symptoms & Phenotypes for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

GenomeRNAi Phenotypes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.86 MSH2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.86 MSH2 PMS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.86 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.86 EPCAM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.86 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.86 MSH2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.86 PMS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.86 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.86 PMS2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.86 MSH2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.86 EPCAM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.86 PMS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.86 MSH2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.86 EPCAM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.86 EPCAM
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.1 MLH1
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 MLH1
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 PMS2

MGI Mouse Phenotypes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.72 EPCAM MLH1 MSH2 MSH6 PMS2
2 digestive/alimentary MP:0005381 9.56 EPCAM MLH1 MSH2 PMS2
3 hematopoietic system MP:0005397 9.55 EPCAM MLH1 MSH2 MSH6 PMS2
4 immune system MP:0005387 9.35 EPCAM MLH1 MSH2 MSH6 PMS2
5 neoplasm MP:0002006 8.92 MLH1 MSH2 MSH6 PMS2

Drugs & Therapeutics for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Search Clinical Trials , NIH Clinical Center for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Genetic Tests for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Anatomical Context for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Publications for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Variations for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

ClinVar genetic disease variations for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

6 (show top 50) (show all 6941) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMS2 NM_000535.7(PMS2):c.2445+1G>TSNV Pathogenic 234604 rs876661113 7:6017218-6017218 7:5977587-5977587
2 PMS2 NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)SNV Pathogenic 234658 rs763939668 7:6048644-6048644 7:6009013-6009013
3 PMS2 NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)SNV Pathogenic 234508 rs760228510 7:6038813-6038813 7:5999182-5999182
4 MSH2 NM_000251.2(MSH2):c.1344del (p.Lys449fs)deletion Pathogenic 231037 rs876658918 2:47672753-47672753 2:47445614-47445614
5 MSH6 NM_000179.2(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)deletion Pathogenic 233651 rs876660549 2:48026256-48026257 2:47799117-47799118
6 MSH6 NM_000179.2(MSH6):c.1519dup (p.Arg507fs)duplication Pathogenic 230978 rs876658881 2:48026640-48026641 2:47799501-47799502
7 MSH6 NM_000179.2(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)deletion Pathogenic 233770 rs876660630 2:48027767-48027775 2:47800628-47800636
8 MSH6 NM_000179.2(MSH6):c.3846dup (p.Ile1283fs)duplication Pathogenic 232687 rs866771359 2:48033634-48033635 2:47806495-47806496
9 MSH6 NM_000179.2(MSH6):c.3882del (p.Pro1295fs)deletion Pathogenic 230870 rs876658817 2:48033671-48033671 2:47806532-47806532
10 MLH1 NM_000249.3(MLH1):c.1522_1523del (p.Leu509fs)deletion Pathogenic 230876 rs876658821 3:37070386-37070387 3:37028895-37028896
11 MLH1 NM_000249.3(MLH1):c.1746del (p.Phe583fs)deletion Pathogenic 231279 rs876659068 3:37089024-37089024 3:37047533-37047533
12 MLH1 NM_000249.3(MLH1):c.2206G>T (p.Glu736Ter)SNV Pathogenic 232190 rs876659608 3:37092079-37092079 3:37050588-37050588
13 PMS2 NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)indel Pathogenic 231999 rs1554294508 7:6018318-6018320 7:5978687-5978689
14 PMS2 NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)SNV Pathogenic 232650 rs876659900 7:6022492-6022492 7:5982861-5982861
15 PMS2 NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)deletion Pathogenic 233521 rs876660459 7:6026894-6026904 7:5987263-5987273
16 PMS2 NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)SNV Pathogenic 233656 rs587782898 7:6035217-6035217 7:5995586-5995586
17 PMS2 NM_000535.7(PMS2):c.325dup (p.Glu109fs)duplication Pathogenic 233300 rs587781716 7:6043348-6043349 7:6003717-6003718
18 PMS2 NM_000535.7(PMS2):c.2T>G (p.Met1Arg)SNV Pathogenic 231873 rs587780059 7:6048649-6048649 7:6009018-6009018
19 MSH2 NM_000251.2(MSH2):c.790C>T (p.Gln264Ter)SNV Pathogenic 237408 rs878853824 2:47639697-47639697 2:47412558-47412558
20 MSH6 NM_000179.2(MSH6):c.741del (p.Lys247fs)deletion Pathogenic 237213 rs267608041 2:48025857-48025857 2:47798718-47798718
21 MSH6 NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs)deletion Pathogenic 237133 rs878853702 2:48026471-48026472 2:47799332-47799333
22 MSH6 NM_000179.3(MSH6):c.2802_2803CT[1] (p.Asp934_Ser935insTer)short repeat Pathogenic 237166 rs878853721 2:48027924-48027925 2:47800785-47800786
23 MSH6 NM_000179.2(MSH6):c.3163dup (p.Ala1055fs)duplication Pathogenic 237178 rs878853729 2:48028284-48028285 2:47801145-47801146
24 MSH6 NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter)SNV Pathogenic 237193 rs398123231 2:48032087-48032087 2:47804948-47804948
25 MSH6 NM_000179.2(MSH6):c.3930_3970dup (p.Glu1324fs)duplication Pathogenic 237202 rs878853742 2:48033718-48033719 2:47806579-47806580
26 MLH1 NM_000249.3(MLH1):c.1456dup (p.Ser486fs)duplication Pathogenic 237314 rs878853778 3:37070319-37070320 3:37028828-37028829
27 MLH1 NM_000249.3(MLH1):c.2044_2045del (p.Met682fs)deletion Pathogenic 237329 rs878853785 3:37090448-37090449 3:37048957-37048958
28 MLH1 NM_000249.3(MLH1):c.2249dup (p.Tyr750Ter)duplication Pathogenic 237334 rs878853787 3:37092121-37092122 3:37050630-37050631
29 PMS2 NM_000535.7(PMS2):c.1500dup (p.Val501fs)duplication Pathogenic 237887 rs759151952 7:6026895-6026896 7:5987264-5987265
30 PMS2 NM_000535.7(PMS2):c.945_946AC[1] (p.His316fs)short repeat Pathogenic 237934 rs878854060 7:6031644-6031645 7:5992013-5992014
31 MSH2 NM_000251.2(MSH2):c.897T>G (p.Tyr299Ter)SNV Pathogenic 246110 rs879254104 2:47641512-47641512 2:47414373-47414373
32 MSH6 NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)duplication Pathogenic 291306 rs886044911 2:48033755-48033755 2:47806614-47806615
33 MSH6 NM_000179.3(MSH6):c.3573dup (p.Val1192fs)duplication Pathogenic 372414 rs1057517764 2:48032767-48032768 2:47805628-47805629
34 MSH6 NM_000179.2(MSH6):c.3449T>A (p.Leu1150Ter)SNV Pathogenic 372413 rs1057517763 2:48032059-48032059 2:47804920-47804920
35 PMS2 NM_000535.7(PMS2):c.1743del (p.Glu582fs)deletion Pathogenic 372470 rs1057517801 7:6026653-6026653 7:5987022-5987022
36 PMS2 NM_000535.7(PMS2):c.445del (p.Tyr149fs)deletion Pathogenic 372468 rs769742496 7:6042176-6042176 7:6002545-6002545
37 MLH1 NM_000249.3(MLH1):c.1997G>A (p.Trp666Ter)SNV Pathogenic 265246 rs886039424 3:37090402-37090402 3:37048911-37048911
38 PMS2 NC_000007.14:g.(?_5986753)_(6009025_?)deldeletion Pathogenic 267334 7:6026384-6048656 7:5986753-6009025
39 MSH2 NM_000251.2(MSH2):c.2027C>G (p.Ser676Ter)SNV Pathogenic 379791 rs1057520735 2:47703527-47703527 2:47476388-47476388
40 PMS2 NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)SNV Pathogenic 392296 rs1057524433 7:6022489-6022489 7:5982858-5982858
41 PMS2 NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)SNV Pathogenic 393103 rs587780724 7:6027020-6027020 7:5987389-5987389
42 MSH2 NM_000251.2(MSH2):c.350G>A (p.Trp117Ter)SNV Pathogenic 408504 rs786202083 2:47635678-47635678 2:47408539-47408539
43 MSH2 NM_000251.2(MSH2):c.1308dup (p.Val437fs)duplication Pathogenic 408551 rs1060502035 2:47672713-47672714 2:47445574-47445575
44 MSH2 NM_000251.2(MSH2):c.1796del (p.Val598_Leu599insTer)deletion Pathogenic 408559 rs1060502039 2:47702199-47702199 2:47475060-47475060
45 MSH2 NM_000251.2(MSH2):c.830T>A (p.Leu277Ter)SNV Pathogenic 408494 rs786203424 2:47641445-47641445 2:47414306-47414306
46 MSH2 NM_000251.2(MSH2):c.943-1G>TSNV Pathogenic 408461 rs12476364 2:47643434-47643434 2:47416295-47416295
47 MSH6 NM_001281493.1(MSH6):c.-11deldeletion Pathogenic 410523 rs1060502941 2:48026016-48026016 2:47798877-47798877
48 MSH2 NM_000251.2(MSH2):c.2640_2656del (p.Glu881fs)deletion Pathogenic 408510 rs1064792951 2:47709920-47709936 2:47482781-47482797
49 MSH6 NM_000179.2(MSH6):c.2010del (p.Gly670_Leu671insTer)deletion Pathogenic 410470 rs1060502918 2:48027130-48027130 2:47799991-47799991
50 MSH6 NM_000179.2(MSH6):c.2735G>A (p.Trp912Ter)SNV Pathogenic 410398 rs1060502876 2:48027857-48027857 2:47800718-47800718

Expression for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Search GEO for disease gene expression data for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect.

Pathways for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Pathways related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 PMS2 MSH6 MSH2 MLH1
2
Show member pathways
12.55 PMS2 MSH2 MLH1
3
Show member pathways
12.5 MSH6 MSH2 MLH1
4
Show member pathways
12.43 MSH6 MSH2 MLH1
5 12.4 MSH6 MSH2 MLH1
6 12.05 MSH6 MSH2 MLH1
7 11.72 MSH6 MSH2 MLH1
8 11.55 PMS2 MSH2 MLH1
9 11.5 PMS2 MLH1
10
Show member pathways
11.44 MSH6 MSH2
11
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
12 11.2 MSH6 MSH2 MLH1
13 11.14 MSH6 MSH2
14
Show member pathways
11.1 MSH2 MLH1
15
Show member pathways
11.03 MSH2 MLH1
16 10.39 PMS2 MSH6 MSH2 MLH1

GO Terms for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Cellular components related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.43 MSH6 MSH2 MLH1
2 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

Biological processes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 PMS2 MSH6 MSH2 MLH1
2 DNA repair GO:0006281 9.71 PMS2 MSH6 MSH2 MLH1
3 determination of adult lifespan GO:0008340 9.54 MSH6 MSH2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.54 MSH6 MSH2 MLH1
5 negative regulation of DNA recombination GO:0045910 9.52 MSH6 MSH2
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.51 MSH2 MLH1
7 positive regulation of helicase activity GO:0051096 9.48 MSH6 MSH2
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.46 MSH2 MLH1
9 maintenance of DNA repeat elements GO:0043570 9.43 MSH6 MSH2
10 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
11 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MSH2 MLH1
13 mismatch repair GO:0006298 9.26 PMS2 MSH6 MSH2 MLH1
14 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 PMS2 MSH6 MSH2 MLH1

Molecular functions related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.84 PMS2 MSH6 MSH2 MLH1
2 chromatin binding GO:0003682 9.73 MSH6 MSH2 MLH1
3 enzyme binding GO:0019899 9.7 MSH6 MSH2 MLH1
4 single-stranded DNA binding GO:0003697 9.63 PMS2 MSH2 MLH1
5 double-stranded DNA binding GO:0003690 9.57 MSH6 MSH2
6 damaged DNA binding GO:0003684 9.55 MSH6 MSH2
7 DNA-dependent ATPase activity GO:0008094 9.51 MSH6 MSH2
8 ADP binding GO:0043531 9.49 MSH6 MSH2
9 four-way junction DNA binding GO:0000400 9.48 MSH6 MSH2
10 ATPase activity GO:0016887 9.46 PMS2 MSH6 MSH2 MLH1
11 MutSalpha complex binding GO:0032407 9.43 PMS2 MLH1
12 MutLalpha complex binding GO:0032405 9.4 MSH6 MSH2
13 oxidized purine DNA binding GO:0032357 9.37 MSH6 MSH2
14 single guanine insertion binding GO:0032142 9.32 MSH6 MSH2
15 single thymine insertion binding GO:0032143 9.26 MSH6 MSH2
16 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
17 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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