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

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
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 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)

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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

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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 (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

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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 (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	400	Pathogenic ⁶
2	MLH1	MutL Homolog 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶
3	MSH2	MutS Homolog 2	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
4	MSH6	MutS Homolog 6	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
5	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely 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 6941) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PMS2	NM_000535.7(PMS2):c.2445+1G>T	SNV	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_?)del	deletion	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>T	SNV	Pathogenic	408461	rs12476364	2:47643434-47643434	2:47416295-47416295
47	MSH6	NM_001281493.1(MSH6):c.-11del	deletion	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

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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 16)

#	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 ²² 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	12.67	PMS2 MSH6 MSH2 MLH1
2	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	12.55	PMS2 MSH2 MLH1
3	TCR Signaling (Qiagen) ⁶³ Show member pathways ITK and TCR Signaling ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.5	MSH6 MSH2 MLH1
4	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.43	MSH6 MSH2 MLH1
5	Pathways in cancer ³⁶	12.4	MSH6 MSH2 MLH1
6	DNA Damage ⁴	12.05	MSH6 MSH2 MLH1
7	Colorectal Cancer Metastasis ⁶³	11.72	MSH6 MSH2 MLH1
8	Direct p53 effectors ¹	11.55	PMS2 MSH2 MLH1
9	Fanconi anemia pathway ⁶⁵ ³⁶	11.5	PMS2 MLH1
10	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.44	MSH6 MSH2
11	Mismatch repair ¹ ³⁶ ⁶⁵ 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
12	Platinum drug resistance ³⁶	11.2	MSH6 MSH2 MLH1
13	Integrated Cancer Pathway ¹	11.14	MSH6 MSH2
14	Busulfan Pathway, Pharmacodynamics ⁶⁰ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁵	11.1	MSH2 MLH1
15	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	11.03	MSH2 MLH1
16	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	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

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