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 ⁵⁹

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ 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 colorectal cancer, hereditary nonpolyposis, type 7. 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 viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with vaccinia virus (VACV) infection

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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 all 48)

#	Related Disease	Score	Top Affiliating Genes
1	spindle cell intraocular melanoma	10.1	PMS2 MLH1
2	colorectal cancer, hereditary nonpolyposis, type 7	10.0	MSH2 MLH1
3	lower lip cancer	10.0	MSH2 MLH1
4	anal fistula	10.0	MSH2 MLH1
5	melanocytic nevus syndrome, congenital	9.9	MSH2 MLH1
6	childhood kidney cell carcinoma	9.9	MSH2 MLH1
7	intestinal benign neoplasm	9.9	MSH2 MLH1
8	keratoacanthoma	9.8	MSH2 MLH1
9	familial colorectal cancer	9.8	MSH2 MLH1
10	endocrine gland cancer	9.8	MLH1 EPCAM
11	colorectal adenoma	9.8	MSH2 MLH1
12	colorectal cancer 5	9.8	MSH6 MLH1
13	gastric leiomyoma	9.8	MSH6 MLH1
14	attenuated familial adenomatous polyposis	9.7	MSH6 MSH2
15	legius syndrome	9.6	MSH6 MSH2
16	neurofibromatosis, type iv, of riccardi	9.6	PMS2 MSH6
17	gastrointestinal system disease	9.6	MSH2 MLH1
18	colorectal cancer, hereditary nonpolyposis, type 4	9.5	PMS2 MSH2 MLH1
19	hereditary breast ovarian cancer syndrome	9.5	MSH6 MLH1
20	adamantinoma of long bones	9.5	MSH2 MLH1 EPCAM
21	colon adenocarcinoma	9.5	MSH6 MLH1
22	ulcerative colitis	9.4	MSH2 MLH1
23	cecum adenocarcinoma	9.3	MSH6 MSH2 MLH1
24	skin benign neoplasm	9.3	MSH6 MSH2 MLH1
25	colorectal cancer, hereditary nonpolyposis, type 5	9.3	MSH6 MSH2 MLH1
26	colorectal adenocarcinoma	9.2	MSH6 MSH2 MLH1
27	female reproductive system disease	9.2	MSH6 MSH2 MLH1
28	familial adenomatous polyposis	9.2	MSH6 MSH2 MLH1
29	rhabdomyosarcoma	9.2	PMS2 MSH6 MSH2
30	brain cancer	9.1	PMS2 MSH6 MSH2
31	appendix carcinoid tumor	8.8	PMS2 MSH6 MSH2 MLH1
32	adenosquamous colon carcinoma	8.8	PMS2 MSH6 MSH2 MLH1
33	sebaceous adenoma	8.8	PMS2 MSH6 MSH2 MLH1
34	sebaceous adenocarcinoma	8.8	PMS2 MSH6 MSH2 MLH1
35	muir-torre syndrome	8.8	PMS2 MSH6 MSH2 MLH1
36	small intestine cancer	8.8	PMS2 MSH6 MSH2 MLH1
37	mismatch repair cancer syndrome	8.8	PMS2 MSH6 MSH2 MLH1
38	uterine anomalies	8.8	PMS2 MSH6 MSH2 MLH1
39	colonic disease	8.8	PMS2 MSH6 MSH2 MLH1
40	autosomal genetic disease	8.8	PMS2 MSH6 MSH2 MLH1
41	intestinal disease	8.8	PMS2 MSH6 MSH2 MLH1
42	endometrial cancer	8.7	PMS2 MSH6 MSH2 MLH1
43	ovarian cancer	8.7	MSH6 MSH2 MLH1 EPCAM
44	lynch syndrome i	8.4	PMS2 MSH6 MSH2 MLH1 EPCAM
45	lynch syndrome	8.4	PMS2 MSH6 MSH2 MLH1 EPCAM
46	gastrointestinal system cancer	8.4	PMS2 MSH6 MSH2 MLH1 EPCAM
47	large intestine cancer	8.4	PMS2 MSH6 MSH2 MLH1 EPCAM
48	colorectal cancer	8.3	PMS2 MSH6 MSH2 MLH1 EPCAM

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	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.26	MLH1 MSH2 MSH6 PMS2
2	Synthetic lethal with vaccinia virus (VACV) infection	GR00362-A	8.8	MLH1 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	cellular	MP:0005384	9.8	EPCAM MLH1 MSH2 MSH6 PMS2
2	hematopoietic system	MP:0005397	9.72	EPCAM MLH1 MSH2 MSH6 PMS2
3	digestive/alimentary	MP:0005381	9.67	EPCAM MLH1 MSH2 PMS2
4	homeostasis/metabolism	MP:0005376	9.65	EPCAM MLH1 MSH2 MSH6 PMS2
5	immune system	MP:0005387	9.55	EPCAM MLH1 MSH2 MSH6 PMS2
6	mortality/aging	MP:0010768	9.35	EPCAM MLH1 MSH2 MSH6 PMS2
7	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 ⁶ Pathogenic/Likely 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 5596)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	MSH6	NM_000179.2(MSH6): c.3573dup (p.Val1192fs)	duplication	Pathogenic	rs1057517764	2:48032773-48032773	2:47805634-47805634
2	MSH6	NM_000179.2(MSH6): c.3449T> A (p.Leu1150Ter)	single nucleotide variant	Pathogenic	rs1057517763	2:48032059-48032059	2:47804920-47804920
3	PMS2	NM_000535.7(PMS2): c.1743del (p.Glu582fs)	deletion	Pathogenic	rs1057517801	7:6026653-6026653	7:5987022-5987022
4	PMS2	NM_000535.7(PMS2): c.445del (p.Tyr149fs)	deletion	Pathogenic	rs769742496	7:6042176-6042176	7:6002545-6002545
5	PMS2	NM_000535.7(PMS2): c.2140C> T (p.Gln714Ter)	single nucleotide variant	Pathogenic	rs1057524433	7:6022489-6022489	7:5982858-5982858
6	PMS2	NM_000535.7(PMS2): c.1376C> G (p.Ser459Ter)	single nucleotide variant	Pathogenic	rs587780724	7:6027020-6027020	7:5987389-5987389
7	MSH2	NM_000251.2(MSH2): c.350G> A (p.Trp117Ter)	single nucleotide variant	Pathogenic	rs786202083	2:47635678-47635678	2:47408539-47408539
8	MSH2	NM_000251.2(MSH2): c.1308dup (p.Val437fs)	duplication	Pathogenic	rs1060502035	2:47672718-47672718	2:47445579-47445579
9	MSH2	NM_000251.2(MSH2): c.1796del (p.Val598_Leu599insTer)	deletion	Pathogenic	rs1060502039	2:47702200-47702200	2:47475061-47475061
10	MSH2	NM_000251.2(MSH2): c.943-1G> T	single nucleotide variant	Pathogenic	rs12476364	2:47643434-47643434	2:47416295-47416295
11	MSH6	NM_000179.2(MSH6): c.896del (p.Lys299fs)	deletion	Pathogenic	rs1060502941	2:48026018-48026018	2:47798879-47798879
12	MSH2	NM_000251.2(MSH2): c.2640_2656del (p.Glu881fs)	deletion	Pathogenic	rs1064792951	2:47709923-47709939	2:47482784-47482800
13	MSH6	NM_000179.2(MSH6): c.2010del (p.Gly670_Leu671insTer)	deletion	Pathogenic	rs1060502918	2:48027132-48027132	2:47799993-47799993
14	MSH6	NM_000179.2(MSH6): c.2735G> A (p.Trp912Ter)	single nucleotide variant	Pathogenic	rs1060502876	2:48027857-48027857	2:47800718-47800718
15	MSH6	NM_000179.2(MSH6): c.873_874del (p.Asn291fs)	deletion	Pathogenic	rs1060502888	2:48025995-48025996	2:47798856-47798857
16	MSH6	NM_000179.2(MSH6): c.3253del (p.Thr1085fs)	deletion	Pathogenic	rs1060502891	2:48030639-48030639	2:47803500-47803500
17	MSH6	NM_000179.2(MSH6): c.3556+1G> A	single nucleotide variant	Pathogenic	rs1060502926	2:48032167-48032167	2:47805028-47805028
18	MSH6	NM_000179.2(MSH6): c.1572C> A (p.Tyr524Ter)	single nucleotide variant	Pathogenic	rs587779215	2:48026694-48026694	2:47799555-47799555
19	MSH6	NM_000179.2(MSH6): c.1815_1816del (p.Lys606fs)	deletion	Pathogenic	rs1060502886	2:48026937-48026938	2:47799798-47799799
20	MSH6	NM_000179.2(MSH6): c.2550C> G (p.Tyr850Ter)	single nucleotide variant	Pathogenic	rs374230313	2:48027672-48027672	2:47800533-47800533
21	MSH6	NM_000179.2(MSH6): c.2991del (p.Lys997fs)	deletion	Pathogenic	rs1060502890	2:48028113-48028113	2:47800974-47800974
22	MSH6	NM_000179.2(MSH6): c.3827_3830dup (p.Asp1277fs)	duplication	Pathogenic	rs1060502903	2:48033616-48033619	2:47806477-47806480
23	MSH6	NM_000179.2(MSH6): c.442_443del (p.Leu148fs)	deletion	Pathogenic	rs1060502875	2:48018247-48018248	2:47791108-47791109
24	MLH1	NM_000249.3(MLH1): c.390C> G (p.Tyr130Ter)	single nucleotide variant	Pathogenic	rs1060500689	3:37048491-37048491	3:37007000-37007000
25	MLH1	NM_000249.3(MLH1): c.2259del (p.Phe753fs)	deletion	Pathogenic	rs1060500698	3:37092132-37092132	3:37050641-37050641
26	MLH1	NM_000249.3(MLH1): c.1105dup (p.Ser369fs)	duplication	Pathogenic	rs1060500699	3:37067194-37067194	3:37025703-37025703
27	MSH6	NM_000179.2(MSH6): c.3577_3581del (p.Glu1193fs)	deletion	Pathogenic	rs1060502881	2:48032777-48032781	2:47805638-47805642
28	PMS2	NM_000535.7(PMS2): c.1348A> T (p.Lys450Ter)	single nucleotide variant	Pathogenic	rs1060503142	7:6027048-6027048	7:5987417-5987417
29	PMS2	NM_000535.7(PMS2): c.1864_1865del (p.Met622fs)	deletion	Pathogenic	rs1060503137	7:6026531-6026532	7:5986900-5986901
30	PMS2	NM_000535.7(PMS2): c.684_685CT[1] (p.Ser229fs)	short repeat	Pathogenic	rs746766787	7:6038757-6038758	7:5999126-5999127
31	PMS2	NM_000535.7(PMS2): c.1653C> A (p.Cys551Ter)	single nucleotide variant	Pathogenic	rs876659162	7:6026743-6026743	7:5987112-5987112
32	PMS2	NM_000535.7(PMS2): c.2192T> G (p.Leu731Ter)	single nucleotide variant	Pathogenic	rs1060503110	7:6018310-6018310	7:5978679-5978679
33	MSH2	NM_000251.2(MSH2): c.876dup (p.Thr293fs)	duplication	Pathogenic	rs1553352505	2:47641491-47641491	2:47414352-47414352
34	MSH2	NM_000251.2(MSH2): c.1968C> A (p.Tyr656Ter)	single nucleotide variant	Pathogenic	rs63751317	2:47702372-47702372	2:47475233-47475233
35	MSH6	NM_000179.2(MSH6): c.1615_1617CTT[1] (p.Leu540del)	short repeat	Pathogenic	rs1064793600	2:48026740-48026742	2:47799601-47799603
36	MSH2	NM_000251.2(MSH2): c.1565_1568del (p.Tyr522fs)	deletion	Pathogenic	rs1064793561	2:47693851-47693854	2:47466712-47466715
37	MSH6	NM_000179.2(MSH6): c.1933G> T (p.Glu645Ter)	single nucleotide variant	Pathogenic	rs1064795591	2:48027055-48027055	2:47799916-47799916
38	MSH6	NM_000179.2(MSH6): c.2028_2029del (p.Lys676_Ser677insTer)	deletion	Pathogenic	rs1064794055	2:48027150-48027151	2:47800011-47800012
39	MSH6	NM_000179.2(MSH6): c.3083C> G (p.Ser1028Ter)	single nucleotide variant	Pathogenic	rs876660853	2:48028205-48028205	2:47801066-47801066
40	MSH6	NM_000179.2(MSH6): c.2690dup (p.Asn897fs)	duplication	Pathogenic	rs1553414010	2:48027812-48027812	2:47800673-47800673
41	MSH6	NM_000179.2(MSH6): c.3934_3937dup (p.Ile1313fs)	duplication	Pathogenic	rs760190301	2:48033723-48033726	2:47806584-47806587
42	MSH6	NM_000179.2(MSH6): c.3714_3715TA[1] (p.Ile1239fs)	short repeat	Pathogenic	rs1064794384	2:48033412-48033413	2:47806273-47806274
43	MLH1	NM_000249.3(MLH1): c.9_21del (p.Phe3fs)	deletion	Pathogenic	rs1064795341	3:37035047-37035059	3:36993556-36993568
44	MLH1	NM_000249.3(MLH1): c.67dup (p.Glu23fs)	duplication	Pathogenic	rs63750822	3:37035105-37035105	3:36993614-36993614
45	MLH1	NM_000249.3(MLH1): c.2142G> A (p.Trp714Ter)	single nucleotide variant	Pathogenic	rs63750978	3:37092015-37092015	3:37050524-37050524
46	PMS2	NM_000535.7(PMS2): c.1579_1580del (p.Arg527fs)	deletion	Pathogenic	rs1064793234	7:6026816-6026817	7:5987185-5987186
47	PMS2	NM_000535.7(PMS2): c.828C> A (p.Cys276Ter)	single nucleotide variant	Pathogenic	rs757324104	7:6035240-6035240	7:5995609-5995609
48	PMS2	NM_000535.7(PMS2): c.688_689GT[1] (p.Phe231fs)	short repeat	Pathogenic	rs1064795447	7:6038753-6038754	7:5999122-5999123
49	PMS2	NM_000535.7(PMS2): c.655G> T (p.Gly219Ter)	single nucleotide variant	Pathogenic	rs1064796190	7:6038789-6038789	7:5999158-5999158
50	PMS2	NM_000535.7(PMS2): c.1970dup (p.Asn657fs)	duplication	Pathogenic	rs1064794566	7:6026426-6026426	7:5986795-5986795

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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 17)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.71	PMS2 MSH6 MSH2 MLH1
2	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.56	PMS2 MSH2 MLH1
3	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.51	MSH6 MSH2 MLH1
4	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.45	MSH6 MSH2 MLH1
5	Pathways in cancer ³⁷	12.41	MSH6 MSH2 MLH1
6	DNA Damage ⁴	12.08	MSH6 MSH2 MLH1
7	Colorectal Cancer Metastasis ⁶⁴	11.72	MSH6 MSH2 MLH1
8	Direct p53 effectors ¹	11.55	PMS2 MSH2 MLH1
9	Fanconi anemia pathway ⁶⁶ ³⁷	11.52	PMS2 MLH1
10	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.46	MSH6 MSH2
11	Mismatch repair ¹ ³⁷ ⁶⁶ Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) ⁶⁶ Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) ⁶⁶ Mismatch Repair in Eukaryotes ⁶⁴	11.23	PMS2 MSH6 MSH2 MLH1
12	Platinum drug resistance ³⁷	11.2	MSH6 MSH2 MLH1
13	Integrated Cancer Pathway ¹	11.16	MSH6 MSH2
14	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	11.15	MSH6 MSH2 MLH1
15	Busulfan Pathway, Pharmacodynamics ⁶¹ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁶	11.12	MSH2 MLH1
16	Doxorubicin Pathway, Pharmacokinetics ⁶¹ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶¹	11.06	MSH2 MLH1
17	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	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 17)

#	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	negative regulation of DNA recombination	GO:0045910	9.56	MSH6 MSH2
4	determination of adult lifespan	GO:0008340	9.55	MSH6 MSH2
5	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.54	MSH2 MLH1
6	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.54	MSH6 MSH2 MLH1
7	positive regulation of helicase activity	GO:0051096	9.52	MSH6 MSH2
8	positive regulation of isotype switching to IgA isotypes	GO:0048298	9.48	MSH2 MLH1
9	maintenance of DNA repeat elements	GO:0043570	9.46	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	interstrand cross-link repair	GO:0036297	9.27	MSH6
14	mismatch repair	GO:0006298	9.26	PMS2 MSH6 MSH2 MLH1
15	pyrimidine dimer repair	GO:0006290	9.21	MSH6
16	meiotic mismatch repair	GO:0000710	9.13	MSH6
17	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	oxidized purine DNA binding	GO:0032357	9.46	MSH6 MSH2
11	ATPase activity	GO:0016887	9.46	PMS2 MSH6 MSH2 MLH1
12	MutSalpha complex binding	GO:0032407	9.43	PMS2 MLH1
13	MutLalpha complex binding	GO:0032405	9.4	MSH6 MSH2
14	single thymine insertion binding	GO:0032143	9.32	MSH6 MSH2
15	single guanine insertion binding	GO:0032142	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

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

¹ BioSystems

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³ CDC

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³⁰ HGMD

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⁴⁸ NCBI Bookshelf

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

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⁷⁵ Wikipedia