Mammalian disorder of sexual development

Pathway network for the Mammalian disorder of sexual development SuperPath

Sources:

WikiPathways
Reactome

Pathways in the Mammalian disorder of sexual development SuperPath

#	Name	Source	Genes
1	Mammalian disorder of sexual development	WikiPathways	AMH AMHR2 CBX2 CTNNB1 DHH DMRT1 EMX2 FGF9 FGFR2 FOXL2 GATA4 INSL3 MAPK11 NR5A1 PBX1 PTGDS RBFOX2 RSPO1 SOX8 SOX9 SRD5A1 SRY WNT4 WT1 (see all 24) (see less)
2	Somatic sex determination	WikiPathways	AMH DHH DMRT1 FGF9 FOXL2 GATA4 NR5A1 PTGDS RSPO1 SOX8 SOX9 SRY WNT4 WT1 (see all 14) (see less)
3	Transcriptional regulation of testis differentiation	Reactome	AMH DHH DMRT1 FGF9 GATA4 NR5A1 PTGDS SOX9 SRY WT1 ZFPM2 (see all 11) (see less)

Gene overlap in member pathways for Mammalian disorder of sexual development SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	PTGDS	Prostaglandin D2 Synthase	Protein Coding	3
2	WT1	WT1 Transcription Factor	Protein Coding	3
3	SRY	Sex Determining Region Y	Protein Coding	3
4	SOX9	SRY-Box Transcription Factor 9	Protein Coding	3
5	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	3
6	AMH	Anti-Mullerian Hormone	Protein Coding	3
7	GATA4	GATA Binding Protein 4	Protein Coding	3
8	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	3
9	FGF9	Fibroblast Growth Factor 9	Protein Coding	3
10	DMRT1	Doublesex And Mab-3 Related Transcription Factor 1	Protein Coding	3
11	FOXL2	Forkhead Box L2	Protein Coding	2
12	WNT4	Wnt Family Member 4	Protein Coding	2
13	SOX8	SRY-Box Transcription Factor 8	Protein Coding	2
14	RSPO1	R-Spondin 1	Protein Coding	2
15	CBX2	Chromobox 2	Protein Coding	1
16	SRD5A1	Steroid 5 Alpha-Reductase 1	Protein Coding	1
17	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
18	PBX1	PBX Homeobox 1	Protein Coding	1
19	INSL3	Insulin Like 3	Protein Coding	1
20	AMHR2	Anti-Mullerian Hormone Receptor Type 2	Protein Coding	1
21	RBFOX2	RNA Binding Fox-1 Homolog 2	Protein Coding	1
22	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
23	EMX2	Empty Spiracles Homeobox 2	Protein Coding	1
24	CTNNB1	Catenin Beta 1	Protein Coding	1
25	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1

Disorders associated with Mammalian disorder of sexual development SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	46,xy partial gonadal dysgenesis	Enrichment	GATA4, NR5A1, SOX9, SRY, WT1	16.00
2	46,xy complete gonadal dysgenesis	Enrichment	DHH, DMRT1, NR5A1, SOX9, SRY, WT1	16.00
3	46,xx sex reversal 1	Enrichment	NR5A1, SOX9, SRY	9.39
4	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	NR5A1, SOX9, SRY	8.40
5	46,xy sex reversal 3	Enrichment	GATA4, NR5A1	6.22
6	46,xy disorder of sex development	Enrichment	NR5A1, SRY	5.05
7	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	DMRT1, GATA4, NR5A1	4.97
8	Difference of sex development	Enrichment	NR5A1, WT1	4.78
9	Persistent mullerian duct syndrome, types i and ii	Enrichment	AMH, AMHR2	4.75
10	Persistent mullerian duct syndrome	Enrichment	AMH, AMHR2	4.75
11	Tetralogy of fallot	Enrichment	GATA4, ZFPM2	3.72
12	Male infertility	Enrichment	DMRT1, NR5A1	3.48
13	Colorectal cancer	Enrichment	CTNNB1, FGFR2, SOX9	3.33
14	46,xy sex reversal 4	Enrichment	DMRT1	3.09
15	46,xy sex reversal 7	Enrichment	DHH	3.09
16	46,xx sex reversal 4	Enrichment	NR5A1	3.09
17	Spermatogenic failure 8	Enrichment	NR5A1	3.09
18	Atrioventricular septal defect 4	Enrichment	GATA4	3.09
19	46,xy sex reversal 10	Enrichment	SOX9	3.09
20	46,xx sex reversal 2	Enrichment	SOX9	3.09
21	Meacham syndrome	Enrichment	WT1	3.09
22	Atrial septal defect 2	Enrichment	GATA4	3.09
23	Multiple synostoses syndrome 3	Enrichment	FGF9	3.09
24	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	3.09
25	Premature ovarian failure 7	Enrichment	NR5A1	3.09
26	8p23.1 microdeletion syndrome	Enrichment	GATA4	3.09
27	45,x/46,xy mixed gonadal dysgenesis	Enrichment	SRY	3.09
28	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	3.09
29	Blepharophimosis, ptosis, and epicanthus inversus	Enrichment	FOXL2	2.99
30	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	2.99
31	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	2.99
32	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	Enrichment	RSPO1	2.99
33	Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome	Enrichment	RSPO1	2.99
34	Campomelic dysplasia	Enrichment	SOX9	2.79
35	Denys-drash syndrome	Enrichment	WT1	2.79
36	Nephrotic syndrome, type 4	Enrichment	WT1	2.79
37	46,xy gonadal dysgenesis with minifascicular neuropathy	Enrichment	DHH	2.79
38	Frasier syndrome	Enrichment	WT1	2.79
39	46,xy sex reversal 9	Enrichment	ZFPM2	2.79
40	46,xy sex reversal 1	Enrichment	SRY	2.79
41	Desmoplastic small round cell tumor	Enrichment	WT1	2.79
42	Campomelic dysplasia and related disorders	Enrichment	SOX9	2.79
43	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	2.75
44	46,xy sex reversal 5	Enrichment	CBX2	2.75
45	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	2.75
46	Apert syndrome	Enrichment	FGFR2	2.75
47	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	2.75
48	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Enrichment	PBX1	2.75
49	Adenoid ameloblastoma	Enrichment	CTNNB1	2.75
50	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	2.75
51	Microcystic stromal tumor	Enrichment	CTNNB1	2.75
52	Premature ovarian failure 3	Enrichment	FOXL2	2.69
53	Malignant granulosa cell tumor of the ovary	Enrichment	FOXL2	2.69
54	Mesothelioma, malignant	Enrichment	WT1	2.61
55	Diaphragmatic hernia 3	Enrichment	ZFPM2	2.61
56	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	WNT4	2.51
57	Aniridia 1	Enrichment	WT1	2.49
58	Spermatogenic failure 1	Enrichment	NR5A1	2.49
59	Multiple synostoses syndrome	Enrichment	FGF9	2.49
60	Transposition of the great arteries	Enrichment	GATA4	2.49
61	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.45
62	Aural atresia, congenital	Enrichment	FGFR2	2.45
63	Pfeiffer syndrome	Enrichment	FGFR2	2.45
64	Jackson-weiss syndrome	Enrichment	FGFR2	2.45
65	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	2.45
66	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.45
67	Split hand-foot malformation	Enrichment	FGFR2	2.45
68	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.45
69	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	PBX1	2.45
70	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	2.45
71	Congenital hypogonadotropic hypogonadism	Enrichment	EMX2	2.45
72	Teratoma	Enrichment	CTNNB1	2.45
73	Renal hypoplasia, bilateral	Enrichment	PBX1	2.45
74	Leber congenital amaurosis 10	Enrichment	WT1	2.39
75	Ventricular septal defect 1	Enrichment	GATA4	2.39
76	Congenital heart defects, multiple types, 4	Enrichment	GATA4	2.39
77	Blepharophimosis	Enrichment	FOXL2	2.38
78	Conotruncal heart malformations	Enrichment	ZFPM2	2.31
79	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	WT1	2.31
80	Pierre robin syndrome	Enrichment	SOX9	2.31
81	Wilms tumor 5	Enrichment	WT1	2.31
82	Double outlet right ventricle	Enrichment	ZFPM2	2.31
83	Crouzon syndrome	Enrichment	FGFR2	2.28
84	Desmoid disease, hereditary	Enrichment	CTNNB1	2.28
85	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2	2.28
86	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	2.28
87	Anus, imperforate	Enrichment	CTNNB1	2.28
88	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	2.28
89	Desmoid tumor	Enrichment	CTNNB1	2.28
90	Schizencephaly	Enrichment	EMX2	2.15
91	Saethre-chotzen syndrome	Enrichment	FGFR2	2.15
92	Pilomatrixoma	Enrichment	CTNNB1	2.15
93	Alazami syndrome	Enrichment	CTNNB1	2.15
94	Craniopharyngioma	Enrichment	CTNNB1	2.15
95	Glioma	Enrichment	FGFR2	2.15
96	Leukemia, acute lymphoblastic 3	Enrichment	WT1	2.14
97	Hemifacial hyperplasia	Enrichment	FGFR2	2.05
98	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	2.05
99	46 xx gonadal dysgenesis	Enrichment	NR5A1	2.01
100	Diaphragmatic hernia, congenital	Enrichment	ZFPM2	1.98
101	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.98
102	Split-hand/foot malformation 1	Enrichment	FGFR2	1.98
103	Adrenocortical carcinoma	Enrichment	CTNNB1	1.98
104	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4	1.95
105	Heart disease	Enrichment	GATA4	1.95
106	Wilms tumor 1	Enrichment	WT1	1.92
107	Kidney disease	Enrichment	WT1	1.92
108	Gallbladder cancer	Enrichment	CTNNB1	1.91
109	Ovarian cancer	Enrichment	CTNNB1, WT1	1.87
110	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.85
111	Cryptorchidism	Enrichment	INSL3	1.85
112	Heart, malformation of	Enrichment	GATA4	1.84
113	Patent foramen ovale	Enrichment	GATA4	1.84
114	Cryptorchidism, unilateral or bilateral	Enrichment	INSL3	1.80
115	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.80
116	Focal segmental glomerulosclerosis	Enrichment	WT1	1.79
117	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.76
118	Familial atrial fibrillation	Enrichment	GATA4	1.71
119	Medulloblastoma	Enrichment	CTNNB1	1.61
120	Connective tissue disease	Enrichment	SOX9	1.59
121	Hydrocephalus	Enrichment	FGFR2	1.58
122	Genetic steroid-resistant nephrotic syndrome	Enrichment	WT1	1.56
123	Polycystic liver disease	Enrichment	CTNNB1	1.53
124	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.53
125	Craniosynostosis	Enrichment	FGFR2	1.46
126	Endometrial cancer	Enrichment	FGFR2	1.44
127	Hepatoblastoma	Enrichment	CTNNB1	1.44
128	Hepatocellular carcinoma	Enrichment	CTNNB1	1.42
129	Primary ovarian insufficiency	Enrichment	WT1	1.33
130	Bladder cancer	Enrichment	CTNNB1	1.30
131	Gastric cancer	Enrichment	FGFR2	1.13
132	Hypertelorism	Enrichment	FGFR2	1.05
133	Inherited cancer-predisposing syndrome	Enrichment	WT1	0.99
134	Congenital nervous system abnormality	Enrichment	CTNNB1	0.77
135	Nervous system disease	Enrichment	CTNNB1	0.77
136	Autism spectrum disorder	Enrichment	PBX1	0.75
137	Microcephaly	Enrichment	CTNNB1	0.71

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Mammalian disorder of sexual development

Pathway Network for Mammalian disorder of sexual development

Pathway network for the Mammalian disorder of sexual development SuperPath

Member Pathways for Mammalian disorder of sexual development

Pathways in the Mammalian disorder of sexual development SuperPath

Gene overlap in member pathways for Mammalian disorder of sexual development SuperPath

Associated Genes for Mammalian disorder of sexual development

Associated Disorders for Mammalian disorder of sexual development

Disorders associated with Mammalian disorder of sexual development SuperPath

STRING Interaction Network for Mammalian disorder of sexual development

Sources for Mammalian disorder of sexual development