46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: 46X071 MIFTS: 30	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases
Genes Variations Related diseases Pathways Expand all tables

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁸ ORPHA443090

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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 intracranial meningioma and ascending 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 DNA Damage. Related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

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

Diseases in the Disorder 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	intracranial meningioma	10.1	MSH2 MLH1
2	ascending colon cancer	10.1	MSH2 MLH1
3	lower lip cancer	10.1	MSH2 MLH1
4	anal fistula	10.1	MSH2 MLH1
5	melanocytic nevus syndrome, congenital	10.1	MSH2 MLH1
6	silent pituitary adenoma	10.1	MSH6 MSH2
7	endometrioid ovary carcinoma	10.0	MSH6 MLH1
8	spindle cell intraocular melanoma	10.0	PMS2 MLH1
9	ureter, cancer of	10.0	MSH2 MLH1
10	transverse colon cancer	10.0	PMS2 MLH1
11	signet ring cell adenocarcinoma	10.0	MSH2 MLH1
12	attenuated familial adenomatous polyposis	10.0	MSH6 MSH2
13	colorectal cancer, hereditary nonpolyposis, type 4	10.0	PMS2 MLH1
14	uterine body mixed cancer	10.0	MSH6 MLH1
15	familial colorectal cancer	10.0	MSH2 MLH1
16	legius syndrome	10.0	MSH6 MSH2
17	periampullary adenoma	10.0	PMS2 MSH6
18	esophageal tuberculosis	9.9	PMS2 MSH6
19	keratoacanthoma	9.9	MSH2 MLH1
20	fallopian tube endometrioid adenocarcinoma	9.9	PMS2 MSH6
21	rectosigmoid cancer	9.9	PMS2 MSH6
22	adenoma	9.9	MSH6 MSH2 MLH1
23	renal pelvis transitional cell carcinoma	9.9	MSH6 MSH2 MLH1
24	autosomal dominant non-syndromic intellectual disability 8	9.9	MSH6 MSH2 MLH1
25	bilateral breast cancer	9.9	MSH6 MLH1
26	breast-ovarian cancer, familial 1	9.8	MSH6 MSH2 MLH1
27	cecum carcinoma	9.8	MSH6 MSH2 MLH1
28	alveolar soft part sarcoma	9.8	MSH2 MLH1
29	skin benign neoplasm	9.8	MSH6 MSH2 MLH1
30	endometrial hyperplasia	9.8	MSH6 MSH2 MLH1
31	gastrointestinal system benign neoplasm	9.8	MSH6 MSH2 MLH1
32	rectum cancer	9.8	MSH6 MSH2 MLH1
33	familial adenomatous polyposis	9.8	MSH6 MSH2 MLH1
34	melanoma, cutaneous malignant 1	9.8	MSH6 MSH2 MLH1
35	jejunal adenocarcinoma	9.8	PMS2 MSH6 MLH1
36	ulcerative colitis	9.8	MSH6 MSH2 MLH1
37	colitis	9.8	MSH6 MSH2 MLH1
38	esophagus sarcoma	9.7	PMS2 MSH6 MSH2
39	cervical adenosarcoma	9.7	PMS2 MSH6 MSH2
40	t-cell non-hodgkin lymphoma	9.7	PMS2 MSH6 MSH2
41	colorectal adenoma	9.7	MSH2 MLH1
42	adenocarcinoma	9.7	MSH6 MSH2 MLH1 EPCAM
43	xeroderma pigmentosum, variant type	9.7	MSH6 MSH2 MLH1
44	rectum signet ring adenocarcinoma	9.6	PMS2 MSH2 MLH1 EPCAM
45	extrahepatic bile duct adenoma	9.5	PMS2 MSH6 MSH2 MLH1
46	adenosquamous colon carcinoma	9.5	PMS2 MSH6 MSH2 MLH1
47	appendix carcinoid tumor	9.5	PMS2 MSH6 MSH2 MLH1
48	mismatch repair cancer syndrome	9.5	PMS2 MSH6 MSH2 MLH1
49	colon adenocarcinoma	9.5	PMS2 MSH6 MLH1 EPCAM
50	jejunal cancer	9.5	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

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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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.1	MLH1
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.1	MLH1
3	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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	8.92	MLH1 MSH2 MSH6 PMS2

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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

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

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

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

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

Genes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect (7 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
2	MLH1	MutL Homolog 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
3	MSH2	MutS Homolog 2	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
4	MSH6	MutS Homolog 6	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
5	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
6	EPM2AIP1	EPM2A Interacting Protein 1	Protein Coding	400	Pathogenic ⁶
7	MIR559	MicroRNA 559	RNA Gene	400	Pathogenic ⁶

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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 7882)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MLH1	NM_000249.3(MLH1):c.2190del (p.Pro731fs)	Deletion	Pathogenic	135851	rs587780683	3:37092063-37092063	3:37050572-37050572
2	MSH6	NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter)	SNV	Pathogenic	216042	rs863224473	2:48026167-48026167	2:47799028-47799028
3	PMS2	NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	Deletion	Pathogenic	216075	rs863224498	7:6026757-6026758	7:5987126-5987127
4	PMS2	NM_000535.7(PMS2):c.1750dup (p.Ile584fs)	Duplication	Pathogenic	220605	rs864622600	7:6026645-6026646	7:5987014-5987015
5	MLH1	NM_000249.3(MLH1):c.2249dup (p.Tyr750Ter)	Duplication	Pathogenic	237334	rs878853787	3:37092121-37092122	3:37050630-37050631
6	PMS2	NM_000535.7(PMS2):c.1500dup (p.Val501fs)	Duplication	Pathogenic	237887	rs759151952	7:6026895-6026896	7:5987264-5987265
7	MSH6	NM_000179.2(MSH6):c.3930_3970dup (p.Glu1324fs)	Duplication	Pathogenic	237202	rs878853742	2:48033718-48033719	2:47806579-47806580
8	MSH6	NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter)	SNV	Pathogenic	237162	rs878853718	2:48027802-48027802	2:47800663-47800663
9	PMS2	NM_000535.7(PMS2):c.945_946AC[1] (p.His316fs)	Microsatellite	Pathogenic	237934	rs878854060	7:6031644-6031645	7:5992013-5992014
10	PMS2	NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)	SNV	Pathogenic	411087	rs876659162	7:6026743-6026743	7:5987112-5987112
11	MLH1	NM_000249.3(MLH1):c.1039-2A>C	SNV	Pathogenic	405391	rs267607815	3:37067126-37067126	3:37025635-37025635
12	PMS2	NM_000535.7(PMS2):c.684_685CT[1] (p.Ser229fs)	Microsatellite	Pathogenic	411063	rs746766787	7:6038757-6038758	7:5999126-5999127
13	MSH2	NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter)	SNV	Pathogenic	408548	rs1060502032	2:47703661-47703661	2:47476522-47476522
14	MSH2	NM_000251.2(MSH2):c.1308dup (p.Val437fs)	Duplication	Pathogenic	408551	rs1060502035	2:47672713-47672714	2:47445574-47445575
15	PMS2	NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)	SNV	Pathogenic	411069	rs1060503142	7:6027048-6027048	7:5987417-5987417
16	MSH2	NM_000251.2(MSH2):c.85A>T (p.Lys29Ter)	SNV	Pathogenic	408478	rs1060502001	2:47630415-47630415	2:47403276-47403276
17	MLH1	NM_000249.3(MLH1):c.390C>G (p.Tyr130Ter)	SNV	Pathogenic	405390	rs1060500689	3:37048491-37048491	3:37007000-37007000
18	MSH6	NM_000179.2(MSH6):c.3827_3830dup (p.Asp1277fs)	Duplication	Pathogenic	410442	rs1060502903	2:48033615-48033616	2:47806476-47806477
19	MSH2	NM_000251.2(MSH2):c.2640_2656del (p.Glu881fs)	Deletion	Pathogenic	408510	rs1064792951	2:47709920-47709936	2:47482781-47482797
20	MSH2	NM_000251.2(MSH2):c.1796del (p.Val598_Leu599insTer)	Deletion	Pathogenic	408559	rs1060502039	2:47702199-47702199	2:47475060-47475060
21	MSH6	NM_000179.2(MSH6):c.3556+1G>A	SNV	Pathogenic	410489	rs1060502926	2:48032167-48032167	2:47805028-47805028
22	MSH2	NM_000251.2(MSH2):c.350G>A (p.Trp117Ter)	SNV	Pathogenic	408504	rs786202083	2:47635678-47635678	2:47408539-47408539
23	PMS2	NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)	SNV	Pathogenic	411015	rs1060503110	7:6018310-6018310	7:5978679-5978679
24	MSH6	NM_000179.2(MSH6):c.3809_3812dup (p.Glu1272fs)	Duplication	Pathogenic	455289	rs1553333301	2:48033597-48033598	2:47806458-47806459
25	MSH6	NM_000179.2(MSH6):c.3398del (p.Thr1133fs)	Deletion	Pathogenic	455256	rs1553331722	2:48030784-48030784	2:47803645-47803645
26	MSH2	NM_000251.2(MSH2):c.2563C>T (p.Gln855Ter)	SNV	Pathogenic	455569	rs1553370404	2:47707939-47707939	2:47480800-47480800
27	PMS2	NM_000535.7(PMS2):c.1579del (p.Arg527fs)	Deletion	Pathogenic	455662	rs1554297523	7:6026817-6026817	7:5987186-5987186
28	MSH6	NM_000179.2(MSH6):c.3281dup (p.Arg1095fs)	Duplication	Pathogenic	455245	rs1553331454	2:48030666-48030667	2:47803527-47803528
29	MSH6	NM_000179.2(MSH6):c.3880_3892del (p.Cys1294fs)	Deletion	Pathogenic	455303	rs1553333497	2:48033665-48033677	2:47806526-47806538
30	MLH1	NM_000249.3(MLH1):c.1447del (p.Glu483fs)	Deletion	Pathogenic	455387	rs1553652930	3:37070311-37070311	3:37028820-37028820
31	MLH1	NM_001354621.1(MLH1):c.-13_-10delinsAATGTGCA	Indel	Pathogenic	455363	rs1553648195	3:37061927-37061930	3:37020436-37020439
32	MSH6	NM_000179.2(MSH6):c.3238del (p.Leu1080fs)	Deletion	Pathogenic	455242	rs1553331337	2:48030624-48030624	2:47803485-47803485
33	PMS2	NM_000535.7(PMS2):c.1068del (p.Thr357fs)	Deletion	Pathogenic	455637	rs1554298741	7:6029507-6029507	7:5989876-5989876
34	MLH1	NM_000249.3(MLH1):c.404dup (p.Lys136fs)	Duplication	Pathogenic	455432	rs1553642079	3:37048504-37048505	3:37007013-37007014
35	MLH1	NM_000249.3(MLH1):c.979C>T (p.Gln327Ter)	SNV	Pathogenic	455464	rs587782087	3:37061895-37061895	3:37020404-37020404
36	MLH1	NM_001167617.2(MLH1):c.967delinsTAT (p.Ser323fs)	Indel	Pathogenic	455381	rs1553651130	3:37067350-37067350	3:37025859-37025859
37	MSH6	NM_000179.2(MSH6):c.1299del (p.Phe432_Tyr433insTer)	Deletion	Pathogenic	455129	rs1553412735	2:48026421-48026421	2:47799282-47799282
38	MSH6	NM_000179.2(MSH6):c.2371_2372insAGAC (p.Arg791fs)	Insertion	Pathogenic	455191	rs1553413732	2:48027492-48027493	2:47800353-47800354
39	MSH2	NM_000251.2(MSH2):c.193_194insTC (p.Lys65fs)	Insertion	Pathogenic	455534	rs1553348898	2:47630523-47630524	2:47403384-47403385
40	MSH2	NM_000251.2(MSH2):c.2085dup (p.Pro696fs)	Duplication	Pathogenic	455541	rs1553369100	2:47703584-47703585	2:47476445-47476446
41	PMS2	NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)	SNV	Pathogenic	234759	rs876661203	7:6013097-6013097	7:5973466-5973466
42	MLH1	NM_000249.3(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer)	Duplication	Pathogenic	455421	rs1553665683	3:37092031-37092032	3:37050540-37050541
43	PMS2	NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)	SNV	Pathogenic	392296	rs1057524433	7:6022489-6022489	7:5982858-5982858
44	MSH6	NM_000179.2(MSH6):c.3577_3580dup (p.Leu1194Ter)	Duplication	Pathogenic	455271	rs773262801	2:48032775-48032776	2:47805636-47805637
45	MSH6	NM_000179.2(MSH6):c.1223del (p.Pro408fs)	Deletion	Pathogenic	455125	rs1553412649	2:48026344-48026344	2:47799205-47799205
46	MLH1	NM_000249.3(MLH1):c.532G>T (p.Glu178Ter)	SNV	Pathogenic	455443	rs1248251121	3:37050383-37050383	3:37008892-37008892
47	PMS2	NM_000535.7(PMS2):c.748_749del (p.Ser250fs)	Deletion	Pathogenic	455740	rs1554301486	7:6037011-6037012	7:5997380-5997381
48	MSH6	NM_000179.2(MSH6):c.1923del (p.Glu641fs)	Deletion	Pathogenic	455164	rs869040863	2:48027044-48027044	2:47799905-47799905
49	PMS2	NC_000007.13:g.(?_6026384)_(6027257_?)del	Deletion	Pathogenic	455074		7:6026384-6027257
50	MSH2	NM_000251.2(MSH2):c.206del (p.Pro69fs)	Deletion	Pathogenic	455539	rs1553348904	2:47630535-47630535	2:47403396-47403396

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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.

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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 11)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	12.78	PMS2 MSH6 MSH2 MLH1
2	DNA Damage ⁴	12.02	MSH6 MSH2 MLH1
3	Colorectal Cancer Metastasis ⁶³	11.72	MSH6 MSH2 MLH1
4	Direct p53 effectors ¹	11.55	PMS2 MSH2 MLH1
5	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.41	MSH6 MSH2
6	Mismatch repair ³⁶ ⁶⁵ ¹ Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) ⁶⁵ Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) ⁶⁵ Mismatch Repair in Eukaryotes ⁶³	11.23	PMS2 MSH6 MSH2 MLH1
7	Platinum drug resistance ³⁶	11.2	MSH6 MSH2 MLH1
8	Integrated Cancer Pathway ¹	11.12	MSH6 MSH2
9	Busulfan Pathway, Pharmacodynamics ⁶⁰ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁵	11.08	MSH2 MLH1
10	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	11.01	MSH2 MLH1
11	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.39	PMS2 MSH6 MSH2 MLH1

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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	MutLalpha complex	GO:0032389	9.16	PMS2 MLH1
2	MutSalpha complex	GO:0032301	8.96	MSH6 MSH2
3	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	9.81	PMS2 MSH6 MSH2 MLH1
2	DNA repair	GO:0006281	9.78	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	9.49	MSH2 MLH1
7	positive regulation of helicase activity	GO:0051096	9.46	MSH6 MSH2
8	positive regulation of isotype switching to IgA isotypes	GO:0048298	9.43	MSH2 MLH1
9	isotype switching	GO:0045190	9.43	MSH6 MSH2 MLH1
10	maintenance of DNA repeat elements	GO:0043570	9.4	MSH6 MSH2
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 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.72	MSH6 MSH2 MLH1
2	enzyme binding	GO:0019899	9.7	MSH6 MSH2 MLH1
3	single-stranded DNA binding	GO:0003697	9.63	PMS2 MSH2 MLH1
4	ATPase activity	GO:0016887	9.62	PMS2 MSH6 MSH2 MLH1
5	damaged DNA binding	GO:0003684	9.54	MSH6 MSH2
6	ADP binding	GO:0043531	9.51	MSH6 MSH2
7	DNA-dependent ATPase activity	GO:0008094	9.49	MSH6 MSH2
8	four-way junction DNA binding	GO:0000400	9.48	MSH6 MSH2
9	MutSalpha complex binding	GO:0032407	9.43	PMS2 MLH1
10	MutLalpha complex binding	GO:0032405	9.4	MSH6 MSH2
11	oxidized purine DNA binding	GO:0032357	9.37	MSH6 MSH2
12	single guanine insertion binding	GO:0032142	9.26	MSH6 MSH2
13	single thymine insertion binding	GO:0032143	9.16	MSH6 MSH2
14	guanine/thymine mispair binding	GO:0032137	9.13	MSH6 MSH2 MLH1
15	mismatched DNA binding	GO:0030983	8.92	PMS2 MSH6 MSH2 MLH1

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⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia