MCID: 46X071
MIFTS: 34

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 colorectal cancer, hereditary nonpolyposis, type 4. 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. Affiliated tissues include colon, skin and small intestine, and 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 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect family:

46, Xy Disorders of Sexual Development

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 83)
# Related Disease Score Top Affiliating Genes
1 spindle cell intraocular melanoma 10.0 PMS2 MLH1
2 colorectal cancer, hereditary nonpolyposis, type 4 10.0 PMS2 MLH1
3 ascending colon cancer 9.9 MSH2 MLH1
4 lower lip cancer 9.9 MSH2 MLH1
5 anal fistula 9.9 MSH2 MLH1
6 melanocytic nevus syndrome, congenital 9.9 MSH2 MLH1
7 duodenum disease 9.9 MSH2 MLH1
8 ureter, cancer of 9.9 MSH2 MLH1
9 cecum carcinoma 9.9 MSH2 MLH1
10 familial colorectal cancer 9.8 MSH2 MLH1
11 signet ring cell adenocarcinoma 9.8 MSH2 MLH1
12 keratoacanthoma 9.8 MSH2 MLH1
13 alveolar soft part sarcoma 9.8 MSH2 MLH1
14 skin melanoma 9.8 PMS2 MLH1
15 jejunal adenocarcinoma 9.8 MSH6 MLH1
16 periampullary adenoma 9.8 PMS2 MSH6
17 ovary adenocarcinoma 9.8 MSH2 MLH1
18 fallopian tube endometrioid adenocarcinoma 9.7 PMS2 MSH6
19 colorectal adenoma 9.7 MSH2 MLH1
20 attenuated familial adenomatous polyposis 9.7 MSH6 MSH2
21 cervical mucinous adenocarcinoma 9.7 MSH6 MSH2
22 uterine corpus cancer 9.7 MSH6 MLH1
23 legius syndrome 9.7 MSH6 MSH2
24 rectum signet ring adenocarcinoma 9.6 PMS2 MSH2 MLH1
25 uterine carcinosarcoma 9.5 MSH2 MLH1
26 adenoma 9.4 MSH6 MSH2 MLH1
27 renal pelvis transitional cell carcinoma 9.4 MSH6 MSH2 MLH1
28 cervical adenoma malignum 9.3 MSH6 MSH2 MLH1
29 autosomal dominant non-syndromic intellectual disability 8 9.3 MSH6 MSH2 MLH1
30 mental retardation, autosomal dominant 20 9.3 MSH6 MSH2 MLH1
31 dysplastic nevus syndrome 9.3 MSH6 MSH2 MLH1
32 skin benign neoplasm 9.3 MSH6 MSH2 MLH1
33 endometrial hyperplasia 9.3 MSH6 MSH2 MLH1
34 rectum cancer 9.3 MSH6 MSH2 MLH1
35 cell type benign neoplasm 9.3 MSH6 MSH2 MLH1
36 familial adenomatous polyposis 9.3 MSH6 MSH2 MLH1
37 ulcerative colitis 9.3 MSH6 MSH2 MLH1
38 colitis 9.3 MSH6 MSH2 MLH1
39 glioblastoma multiforme 9.3 PMS2 MSH2 MLH1
40 rhabdomyosarcoma 9.2 PMS2 MSH6 MSH2
41 xeroderma pigmentosum, variant type 9.2 MSH6 MSH2 MLH1
42 ocular cancer 9.2 MSH6 MSH2
43 brain cancer 9.1 PMS2 MSH6 MSH2
44 colon adenocarcinoma 9.1 PMS2 MSH6 MLH1 EPCAM
45 adenocarcinoma 9.0 MSH6 MSH2 MLH1 EPCAM
46 lymphoma 9.0 PMS2 MSH6 MSH2
47 adenosquamous colon carcinoma 9.0 PMS2 MSH6 MSH2 MLH1
48 extrahepatic bile duct adenoma 9.0 PMS2 MSH6 MSH2 MLH1
49 appendix carcinoid tumor 9.0 PMS2 MSH6 MSH2 MLH1
50 jejunal cancer 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 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10 PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10 EPCAM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10 EPCAM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10 PMS2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10 EPCAM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10 EPCAM MSH2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10 PMS2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10 PMS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10 MSH2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10 EPCAM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10 MSH2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10 MSH2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10 PMS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10 MSH2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10 PMS2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10 EPCAM MSH2 PMS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10 EPCAM
20 Increased replication of vaccinia virus (VACV) GR00362-A 9.33 MLH1 MSH6 PMS2
21 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 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...

MalaCards organs/tissues related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

40
Colon, Skin, Small Intestine, Ovary, Brain, Breast, Appendix

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 4787) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPCAM NM_002354.2(EPCAM):c.556-14A>GSNV Pathogenic 157603 rs376155665 2:47606078-47606078 2:47378939-47378939
2 MSH6 NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs)deletion Pathogenic 156507 rs587783056 2:48026824-48026825 2:47799685-47799686
3 MSH6 NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter)SNV Pathogenic 182659 rs730881816 2:48026927-48026927 2:47799788-47799788
4 MSH6 NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs)deletion Pathogenic 182680 rs730881827 2:48027954-48027955 2:47800815-47800816
5 MLH1 NM_000249.3(MLH1):c.209_215delAAGAAGAdeletion Pathogenic 182513 rs730881734 3:37042444-37042450 3:37000953-37000959
6 MLH1 NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter)SNV Pathogenic 182529 rs41542214 3:37090470-37090470 3:37048979-37048979
7 PMS2 NM_000535.7(PMS2):c.2T>A (p.Met1Lys)SNV Pathogenic 182809 rs587780059 7:6048649-6048649 7:6009018-6009018
8 MSH2 NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter)SNV Pathogenic 183761 rs786201066 2:47672761-47672761 2:47445622-47445622
9 MSH6 NM_000179.2(MSH6):c.578del (p.Leu193fs)deletion Pathogenic 183724 rs587782281 2:48023152-48023152 2:47796013-47796013
10 MSH6 NM_001281492.1(MSH6):c.1689dup (p.Cys564fs)duplication Pathogenic 187516 rs267608083 2:48027195-48027196 2:47800056-47800057
11 MSH6 NM_000179.2(MSH6):c.2906_2907del (p.Tyr969fs)deletion Pathogenic 187691 rs786203924 2:48028027-48028028 2:47800888-47800889
12 MSH6 NM_001281492.1(MSH6):c.3172_3175dup (p.Thr1059fs)duplication Pathogenic 186929 rs786203331 2:48032760-48032761 2:47805621-47805622
13 MSH6 NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs)insertion Pathogenic 183794 rs786201084 2:48033439-48033440 2:47806300-47806301
14 MSH6 NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs)duplication Pathogenic 184998 rs1553333738 2:48033767-48033768 2:47806628-47806629
15 PMS2 NM_000535.7(PMS2):c.2156del (p.Gln719fs)deletion Pathogenic 183755 rs786201062 7:6022473-6022473 7:5982842-5982842
16 PMS2 NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)deletion Pathogenic 186596 rs786203073 7:6026522-6026522 7:5986891-5986891
17 PMS2 NM_000535.7(PMS2):c.853_856ACAG[1] (p.Asp286fs)short repeat Pathogenic 183860 rs267608154 7:6035204-6035211 7:5995573-5995580
18 PMS2 NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)SNV Pathogenic 183732 rs786201047 7:6035259-6035259 7:5995628-5995628
19 PMS2 NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)SNV Pathogenic 183716 rs573125799 7:6036995-6036995 7:5997364-5997364
20 MSH6 NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs)deletion Pathogenic 188393 rs786204252 2:48026229-48026230 2:47799090-47799091
21 MSH6 NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter)SNV Pathogenic 216042 rs863224473 2:48026167-48026167 2:47799028-47799028
22 PMS2 NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)deletion Pathogenic 216075 rs863224498 7:6026757-6026758 7:5987126-5987127
23 PMS2 NM_000535.7(PMS2):c.1239dup (p.Asp414fs)duplication Pathogenic 216072 rs267608159 7:6027156-6027157 7:5987525-5987526
24 MSH2 NM_000251.2(MSH2):c.2236dup (p.Ile746fs)duplication Pathogenic 218042 rs863225392 2:47705434-47705435 2:47478295-47478296
25 MSH2 NM_000251.2(MSH2):c.2297del (p.Ile766fs)deletion Pathogenic 218044 rs863225394 2:47705497-47705497 2:47478358-47478358
26 MSH2 NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter)SNV Pathogenic 218045 rs863225395 2:47705500-47705500 2:47478361-47478361
27 MSH2 NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter)SNV Pathogenic 218037 rs370970617 2:47690264-47690264 2:47463125-47463125
28 MSH6 NM_001281493.1(MSH6):c.-7dupduplication Pathogenic 218080 rs863225421 2:48026020-48026021 2:47798881-47798882
29 MSH6 NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs)deletion Pathogenic 218060 rs863225406 2:48030623-48030624 2:47803484-47803485
30 MSH6 NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer)duplication Pathogenic 218061 rs587782562 2:48030716-48030717 2:47803577-47803578
31 MSH6 NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs)deletion Pathogenic 218062 rs863225408 2:48032137-48032141 2:47804998-47805002
32 MLH1 NM_001354621.1(MLH1):c.-139-2802deldeletion Pathogenic 218027 rs863225384 3:37058999-37058999 3:37017508-37017508
33 MLH1 NM_001354630.1(MLH1):c.1732-940_1732-939delinsATCTGGACCindel Pathogenic 218018 rs863225378 3:37089068-37089069 3:37047577-37047578
34 MSH6 NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro)SNV Pathogenic 219294 rs864622041 2:48032832-48032832 2:47805693-47805693
35 MSH2 NM_000251.2(MSH2):c.421_422delATshort repeat Pathogenic 220510 rs1553350680 2:47637285-47637286 2:47410146-47410147
36 MSH2 NM_000251.2(MSH2):c.748G>T (p.Gly250Ter)SNV Pathogenic 219627 rs864622183 2:47639655-47639655 2:47412516-47412516
37 MSH2 NM_000251.2(MSH2):c.1563T>A (p.Tyr521Ter)SNV Pathogenic 220417 rs63750330 2:47693849-47693849 2:47466710-47466710
38 MSH2 NM_000251.2(MSH2):c.1023del (p.Val342fs)deletion Pathogenic 220006 rs864622340 2:47643514-47643514 2:47416375-47416375
39 MSH6 NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter)SNV Pathogenic 220241 rs864622435 2:48026509-48026509 2:47799370-47799370
40 MSH6 NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs)indel Pathogenic 220570 rs864622585 2:48027430-48027434 2:47800291-47800295
41 MLH1 NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter)SNV Pathogenic 220069 rs267607823 3:37067335-37067335 3:37025844-37025844
42 MSH6 NM_001281492.1(MSH6):c.962del (p.Phe321fs)deletion Pathogenic 224534 rs869312769 2:48026473-48026473 2:47799334-47799334
43 MLH1 NM_001167617.2(MLH1):c.-492_-491delinsTAindel Pathogenic 224532 rs869312767 3:37035063-37035064 3:36993572-36993573
44 PMS2 NM_000535.7(PMS2):c.1500del (p.Val501fs)deletion Pathogenic 224541 rs759151952 7:6026896-6026896 7:5987265-5987265
45 MSH2 NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter)SNV Pathogenic 228365 rs876657701 2:47672794-47672794 2:47445655-47445655
46 MSH6 NM_000179.2(MSH6):c.599C>G (p.Ser200Ter)SNV Pathogenic 234621 rs63751077 2:48023174-48023174 2:47796035-47796035
47 MSH6 NM_000179.2(MSH6):c.1969del (p.Gln657fs)deletion Pathogenic 234761 rs876661205 2:48027088-48027088 2:47799949-47799949
48 MSH6 NM_000179.2(MSH6):c.2269_2270del (p.Thr757fs)deletion Pathogenic 234448 rs876661025 2:48027391-48027392 2:47800252-47800253
49 MSH6 NM_000179.2(MSH6):c.3491dup (p.Cys1165fs)duplication Pathogenic 234542 rs876661073 2:48032100-48032101 2:47804961-47804962
50 PMS2 NM_000535.7(PMS2):c.2445+1G>TSNV Pathogenic 234604 rs876661113 7:6017218-6017218 7:5977587-5977587

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 9.85 PMS2 MSH6 MSH2 MLH1
2 chromatin binding GO:0003682 9.71 MSH6 MSH2 MLH1
3 enzyme binding GO:0019899 9.7 MSH6 MSH2 MLH1
4 double-stranded DNA binding GO:0003690 9.57 MSH6 MSH2
5 damaged DNA binding GO:0003684 9.56 MSH6 MSH2
6 single-stranded DNA binding GO:0003697 9.54 PMS2 MSH2 MLH1
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 MutSalpha complex binding GO:0032407 9.46 PMS2 MLH1
11 ATPase activity GO:0016887 9.46 PMS2 MSH6 MSH2 MLH1
12 MutLalpha complex binding GO:0032405 9.43 MSH6 MSH2
13 oxidized purine DNA binding GO:0032357 9.4 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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