Primary ovarian insufficiency

No Pathway Network information available for Primary ovarian insufficiency

Pathways in the Primary ovarian insufficiency SuperPath

#	Name	Source	Genes
1	Primary ovarian insufficiency	WikiPathways	AARS2 ACSL6 ACVR2B AFF2 AGTR2 AIRE AKT1 AMH AMHR2 ANKRD31 ANTXR1 ATG7 ATG9A ATM BCKDHB BDNF BLM BMP15 BMP8B BMPR1A BMPR1B BMPR2 BNC1 BRCA1 BRCA2 C14orf39 CAV1 CBX2 CLPP CNTNAP2 COMT COX10 CPEB1 CXCL12 CYP17A1 CYP19A1 CYP7A1 DAZL DBH DCAF17 DIAPH2 DMC1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2 EIF4ENIF1 ERAL1 ERCC6 ESR1 ESR2 EXO1 FANCA FANCG FANCL FANCM FIGLA FMR1 FOXE1 FOXL2 FOXO1 FOXO3 FSHB FSHR GALT GAS5 GATA4 GDF9 GJA4 GNAS GPR3 HARS2 HAX1 HDX HELQ HFM1 HLA-DRB1 HSD17B4 HSF2BP IFI27 IL2 IL21 IL6 INHA INSL3 KDR KHDRBS1 KIT LAMC1 LARS2 LHCGR LHX8 LMNA LOC100130283 LOC105376156 MCM8 MCM9 MEIOB MGME1 MIR22 MIR449B MMP2 MND1 MRPS22 MSH4 MSH5 NANOS3 NBN NOBOX NOG NOTCH2 NR5A1 NUP107 OSR2 PARP1 PCCA PCCB PCMT1 PCSK1 PDPK1 PGRMC1 POLG POLR2C POLR3H POU5F1 PRDM1 PRDM9 PREPL PRLR PSMC3IP PTEN PTH2R RAD51 RCBTB1 RECQL4 RPL10 S1PR1 SALL4 SELENBP1 SERPINE1 SIL1 SIRT1 SOHLH1 SOHLH2 SOX8 SPATA22 SPIDR STAG3 STAR STRA8 SYCE1 SYCP2L TG TGFBR2 TGFBR3 TMEM150B TNF TP63 TRIM37 TSC2 TSHB TWNK UBR2 WDR62 WNT4 WRN WT1 XPO5 XRCC2 XRCC4 XRCC6 ZP3 (see all 173) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	SELENBP1	Selenium Binding Protein 1	Protein Coding	1
2	STRA8	Stimulated By Retinoic Acid 8	Protein Coding	1
3	MIR449B	MicroRNA 449b	RNA Gene	1
4	EIF2B3	Eukaryotic Translation Initiation Factor 2B Subunit Gamma	Protein Coding	1
5	BCKDHB	Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta	Protein Coding	1
6	HARS2	Histidyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1
7	PREPL	Prolyl Endopeptidase Like	Protein Coding	1
8	RECQL4	RecQ Like Helicase 4	Protein Coding	1
9	SYCE1	Synaptonemal Complex Central Element Protein 1	Protein Coding	1
10	ACVR2B	Activin A Receptor Type 2B	Protein Coding	1
11	MGME1	Mitochondrial Genome Maintenance Exonuclease 1	Protein Coding	1
12	NOG	Noggin	Protein Coding	1
13	BMP15	Bone Morphogenetic Protein 15	Protein Coding	1
14	EXO1	Exonuclease 1	Protein Coding	1
15	EIF2S2	Eukaryotic Translation Initiation Factor 2 Subunit Beta	Protein Coding	1
16	EIF2B5	Eukaryotic Translation Initiation Factor 2B Subunit Epsilon	Protein Coding	1
17	EIF2B2	Eukaryotic Translation Initiation Factor 2B Subunit Beta	Protein Coding	1
18	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	1
19	TP63	Tumor Protein P63	Protein Coding	1
20	CAV1	Caveolin 1	Protein Coding	1
21	CBX2	Chromobox 2	Protein Coding	1
22	MCM8	Minichromosome Maintenance 8 Homologous Recombination Repair Factor	Protein Coding	1
23	ANTXR1	ANTXR Cell Adhesion Molecule 1	Protein Coding	1
24	CLPP	Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit	Protein Coding	1
25	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	1
26	XRCC4	X-Ray Repair Cross Complementing 4	Protein Coding	1
27	XRCC2	X-Ray Repair Cross Complementing 2	Protein Coding	1
28	WT1	WT1 Transcription Factor	Protein Coding	1
29	WRN	WRN RecQ Like Helicase	Protein Coding	1
30	TSHB	Thyroid Stimulating Hormone Subunit Beta	Protein Coding	1
31	TSC2	TSC Complex Subunit 2	Protein Coding	1
32	TNF	Tumor Necrosis Factor	Protein Coding	1
33	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1
34	TG	Thyroglobulin	Protein Coding	1
35	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	1
36	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	1
37	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
38	FOXL2	Forkhead Box L2	Protein Coding	1
39	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	1
40	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	1
41	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
42	CPEB1	Cytoplasmic Polyadenylation Element Binding Protein 1	Protein Coding	1
43	SIL1	SIL1 Nucleotide Exchange Factor	Protein Coding	1
44	BLM	BLM RecQ Like Helicase	Protein Coding	1
45	PRDM1	PR/SET Domain 1	Protein Coding	1
46	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	1
47	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
48	RPL10	Ribosomal Protein L10	Protein Coding	1
49	GAS5	Growth Arrest Specific 5	RNA Gene	1
50	IL21	Interleukin 21	Protein Coding	1
51	RAD51	RAD51 Recombinase	Protein Coding	1
52	FANCM	FA Complementation Group M	Protein Coding	1
53	XPO5	Exportin 5	Protein Coding	1
54	AARS2	Alanyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1
55	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
56	SALL4	Spalt Like Transcription Factor 4	Protein Coding	1
57	NUP107	Nucleoporin 107	Protein Coding	1
58	MRPS22	Mitochondrial Ribosomal Protein S22	Protein Coding	1
59	TWNK	Twinkle MtDNA Helicase	Protein Coding	1
60	PRLR	Prolactin Receptor	Protein Coding	1
61	RCBTB1	RCC1 And BTB Domain Containing Protein 1	Protein Coding	1
62	FANCL	FA Complementation Group L	Protein Coding	1
63	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
64	WNT4	Wnt Family Member 4	Protein Coding	1
65	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	1
66	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
67	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	1
68	PCMT1	Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase	Protein Coding	1
69	PCCB	Propionyl-CoA Carboxylase Subunit Beta	Protein Coding	1
70	PCCA	Propionyl-CoA Carboxylase Subunit Alpha	Protein Coding	1
71	SERPINE1	Serpin Family E Member 1	Protein Coding	1
72	NOTCH2	Notch Receptor 2	Protein Coding	1
73	ATM	ATM Serine/Threonine Kinase	Protein Coding	1
74	NBN	Nibrin	Protein Coding	1
75	TRIM37	Tripartite Motif Containing 37	Protein Coding	1
76	MSH5	MutS Homolog 5	Protein Coding	1
77	MSH4	MutS Homolog 4	Protein Coding	1
78	MMP2	Matrix Metallopeptidase 2	Protein Coding	1
79	MIR22	MicroRNA 22	RNA Gene	1
80	LMNA	Lamin A/C	Protein Coding	1
81	LHCGR	Luteinizing Hormone/Choriogonadotropin Receptor	Protein Coding	1
82	LAMC1	Laminin Subunit Gamma 1	Protein Coding	1
83	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
84	KDR	Kinase Insert Domain Receptor	Protein Coding	1
85	INSL3	Insulin Like 3	Protein Coding	1
86	INHA	Inhibin Subunit Alpha	Protein Coding	1
87	IL6	Interleukin 6	Protein Coding	1
88	IL2	Interleukin 2	Protein Coding	1
89	FIGLA	Folliculogenesis Specific BHLH Transcription Factor	Protein Coding	1
90	IFI27	Interferon Alpha Inducible Protein 27	Protein Coding	1
91	HSD17B4	Hydroxysteroid 17-Beta Dehydrogenase 4	Protein Coding	1
92	AIRE	Autoimmune Regulator	Protein Coding	1
93	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	1
94	SOX8	SRY-Box Transcription Factor 8	Protein Coding	1
95	PSMC3IP	PSMC3 Interacting Protein	Protein Coding	1
96	WDR62	WD Repeat Domain 62	Protein Coding	1
97	GNAS	GNAS Complex Locus	Protein Coding	1
98	GJA4	Gap Junction Protein Alpha 4	Protein Coding	1
99	AMHR2	Anti-Mullerian Hormone Receptor Type 2	Protein Coding	1
100	AMH	Anti-Mullerian Hormone	Protein Coding	1
101	GDF9	Growth Differentiation Factor 9	Protein Coding	1
102	GATA4	GATA Binding Protein 4	Protein Coding	1
103	CNTNAP2	Contactin Associated Protein 2	Protein Coding	1
104	GALT	Galactose-1-Phosphate Uridylyltransferase	Protein Coding	1
105	XRCC6	X-Ray Repair Cross Complementing 6	Protein Coding	1
106	MCM9	Minichromosome Maintenance 9 Homologous Recombination Repair Factor	Protein Coding	1
107	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	1
108	FSHR	Follicle Stimulating Hormone Receptor	Protein Coding	1
109	FSHB	Follicle Stimulating Hormone Subunit Beta	Protein Coding	1
110	SIRT1	Sirtuin 1	Protein Coding	1
111	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1
112	AFF2	ALF Transcription Elongation Factor 2	Protein Coding	1
113	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	1
114	ACSL6	Acyl-CoA Synthetase Long Chain Family Member 6	Protein Coding	1
115	FOXO3	Forkhead Box O3	Protein Coding	1
116	FOXO1	Forkhead Box O1	Protein Coding	1
117	FOXE1	Forkhead Box E1	Protein Coding	1
118	FANCG	FA Complementation Group G	Protein Coding	1
119	FANCA	FA Complementation Group A	Protein Coding	1
120	ESR2	Estrogen Receptor 2	Protein Coding	1
121	ESR1	Estrogen Receptor 1	Protein Coding	1
122	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	1
123	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
124	S1PR1	Sphingosine-1-Phosphate Receptor 1	Protein Coding	1
125	AGTR2	Angiotensin II Receptor Type 2	Protein Coding	1
126	DIAPH2	Diaphanous Related Formin 2	Protein Coding	1
127	HFM1	Helicase For Meiosis 1	Protein Coding	1
128	DBH	Dopamine Beta-Hydroxylase	Protein Coding	1
129	DAZL	Deleted In Azoospermia Like	Protein Coding	1
130	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	1
131	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	1
132	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	1
133	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	1
134	NOBOX	NOBOX Oogenesis Homeobox	Protein Coding	1
135	COX10	Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10	Protein Coding	1
136	COMT	Catechol-O-Methyltransferase	Protein Coding	1
137	OSR2	Odd-Skipped Related Transciption Factor 2	Protein Coding	1
138	PGRMC1	Progesterone Receptor Membrane Component 1	Protein Coding	1
139	STAG3	STAG3 Cohesin Complex Component	Protein Coding	1
140	ATG7	Autophagy Related 7	Protein Coding	1
141	HAX1	HCLS1 Associated Protein X-1	Protein Coding	1
142	POLR3H	RNA Polymerase III Subunit H	Protein Coding	1
143	SPATA22	Spermatogenesis Associated 22	Protein Coding	1
144	MND1	Meiotic Nuclear Divisions 1	Protein Coding	1
145	HDX	Highly Divergent Homeobox	Protein Coding	1
146	HELQ	Helicase, POLQ Like	Protein Coding	1
147	DMC1	DNA Meiotic Recombinase 1	Protein Coding	1
148	HSF2BP	Heat Shock Transcription Factor 2 Binding Protein	Protein Coding	1
149	KHDRBS1	KH RNA Binding Domain Containing, Signal Transduction Associated 1	Protein Coding	1
150	LOC105376156	Uncharacterized LOC105376156	RNA Gene	1
151	ATG9A	Autophagy Related 9A	Protein Coding	1
152	ZP3	Zona Pellucida Glycoprotein 3	Protein Coding	1
153	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	1
154	BMP8B	Bone Morphogenetic Protein 8b	Protein Coding	1
155	BNC1	Basonuclin Zinc Finger Protein 1	Protein Coding	1
156	PTH2R	Parathyroid Hormone 2 Receptor	Protein Coding	1
157	PRDM9	PR/SET Domain 9	Protein Coding	1
158	EIF4ENIF1	Eukaryotic Translation Initiation Factor 4E Nuclear Import Factor 1	Protein Coding	1
159	SOHLH2	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 2	Protein Coding	1
160	POLR2C	RNA Polymerase II Subunit C	Protein Coding	1
161	LHX8	LIM Homeobox 8	Protein Coding	1
162	SOHLH1	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1	Protein Coding	1
163	NANOS3	Nanos C2HC-Type Zinc Finger 3	Protein Coding	1
164	C14orf39	Chromosome 14 Open Reading Frame 39	Protein Coding	1
165	TMEM150B	Transmembrane Protein 150B	Protein Coding	1
166	GPR3	G Protein-Coupled Receptor 3	Protein Coding	1
167	ERAL1	Era Like 12S Mitochondrial RRNA Chaperone 1	Protein Coding	1
168	ANKRD31	Ankyrin Repeat Domain 31	Protein Coding	1
169	MEIOB	Meiosis Specific With OB-Fold	Protein Coding	1
170	SPIDR	Scaffold Protein Involved In DNA Repair	Protein Coding	1
171	UBR2	Ubiquitin Protein Ligase E3 Component N-Recognin 2	Protein Coding	1
172	SYCP2L	Synaptonemal Complex Protein 2 Like	Protein Coding	1
173	LOC100130283	Uncharacterized LOC100130283	RNA Gene	1

Disorders associated with Primary ovarian insufficiency SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Ovarian cancer	Enrichment	AKT1, ATM, BLM, BMPR1A, BRCA1, BRCA2, FANCA, FANCG, KIT, NBN, PTEN, RECQL4, TSC2, WRN, WT1	16.00
2	Breast cancer	Enrichment	AKT1, ATM, BLM, BRCA1, BRCA2, CYP17A1, ESR1, FANCM, IL2, NBN, PTEN, RAD51, XRCC2	10.95
3	46 xx gonadal dysgenesis	Enrichment	BMP15, BNC1, FIGLA, FSHR, MRPS22, MSH4, NR5A1, NUP107, POLR3H, PSMC3IP, SPIDR	10.91
4	Primary ovarian insufficiency	Enrichment	AFF2, BNC1, CYP17A1, CYP19A1, EIF2B2, FANCA, GALT, KDR, KHDRBS1, MND1, MSH4, NBN, NOBOX, NOTCH2, POLG, PREPL, PRLR, STAG3, TP63, WT1	10.53
5	Hereditary breast carcinoma	Enrichment	AKT1, ATM, BLM, BRCA1, BRCA2, ESR1, FANCM, NBN, PTEN, RAD51	9.80
6	Perrault syndrome 2	Enrichment	CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK	9.47
7	Perrault syndrome 1	Enrichment	CLPP, ERAL1, FSHR, HARS2, HSD17B4, LARS2, TWNK	9.28
8	Inherited cancer-predisposing syndrome	Enrichment	ATM, BLM, BMPR1A, BRCA1, BRCA2, FANCA, FANCM, KIT, NBN, PTEN, RECQL4, TSC2, WT1, XRCC2	8.88
9	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, BLM, BRCA1, BRCA2, EIF2B5, FANCM, NBN, PTEN, RAD51, XRCC2	8.81
10	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	BNC1, C14orf39, FANCM, GATA4, MEIOB, MSH5, NR5A1, STAG3, SYCE1, XRCC2	8.72
11	Azoospermia	Enrichment	C14orf39, DMC1, FANCM, HFM1, MCM8, MEIOB, MSH5	8.48
12	Premature menopause	Enrichment	EIF2B2, MSH4, NBN, PREPL, STAG3, TP63	8.20
13	Fanconi anemia, complementation group a	Enrichment	BRCA1, BRCA2, FANCA, FANCG, FANCL, FANCM, RAD51, XRCC2	7.98
14	Leukoencephalopathy with vanishing white matter	Enrichment	AARS2, EIF2B2, EIF2B3, EIF2B4, EIF2B5	7.41
15	Leukoencephalopathy with vanishing white matter 1	Enrichment	EIF2B2, EIF2B3, EIF2B4, EIF2B5	6.06
16	Leukoencephalopathy with vanishing white matter 5	Enrichment	EIF2B2, EIF2B3, EIF2B4, EIF2B5	5.76
17	Endometrial cancer	Enrichment	ATM, BLM, BRCA1, BRCA2, PTEN	5.26
18	Uterine corpus cancer	Enrichment	ATM, BRCA1, BRCA2, PTEN	5.10
19	Pancreatic cancer	Enrichment	ATM, BRCA1, BRCA2, FANCG, NBN	4.86
20	Breast-ovarian cancer, familial 1	Enrichment	ATM, BRCA1, BRCA2, NBN	4.78
21	Prostate cancer	Enrichment	ATM, BRCA1, BRCA2, NBN, PTEN	4.53
22	Diffuse large b-cell lymphoma	Enrichment	BRCA2, FOXO1, NBN, PTEN	4.07
23	Perrault syndrome	Enrichment	HARS2, HSD17B4, LARS2	3.96
24	Short stature, microcephaly, and endocrine dysfunction	Enrichment	XRCC2, XRCC4	3.79
25	46,xy sex reversal 3	Enrichment	GATA4, NR5A1	3.79
26	Inflammatory breast carcinoma	Enrichment	BRCA1, BRCA2	3.79
27	Bilateral breast cancer	Enrichment	BRCA1, BRCA2	3.79
28	Juvenile polyposis of infancy	Enrichment	BMPR1A, PTEN	3.79
29	Gastric cancer	Enrichment	ATM, BRCA1, BRCA2, NBN, PTEN	3.68
30	46,xy complete gonadal dysgenesis	Enrichment	CBX2, NR5A1, WT1	3.51
31	Familial colorectal cancer type x	Enrichment	ATM, BMPR1A, BRCA2	3.51
32	Bladder cancer	Enrichment	ATM, BRCA1, BRCA2, PTEN	3.33
33	Migraine without aura	Enrichment	ESR1, TNF	3.32
34	46,xy partial gonadal dysgenesis	Enrichment	GATA4, NR5A1, WT1	3.17
35	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1, BRCA2	3.02
36	Persistent mullerian duct syndrome, types i and ii	Enrichment	AMH, AMHR2	3.02
37	Propionic acidemia	Enrichment	PCCA, PCCB	3.02
38	Cholangiocarcinoma	Enrichment	BRCA1, BRCA2	3.02
39	Persistent mullerian duct syndrome	Enrichment	AMH, AMHR2	3.02
40	Systemic-onset juvenile idiopathic arthritis	Enrichment	HLA-DRB1, IL6	3.02
41	Rhabdomyosarcoma	Enrichment	BRCA1, BRCA2, PTEN	3.00
42	Premature ovarian failure 1	Enrichment	FMR1, MCM9	2.80
43	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Enrichment	POLG, TWNK	2.80
44	Breast-ovarian cancer, familial 2	Enrichment	BRCA1, BRCA2	2.80
45	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1, HLA-DRB1	2.80
46	Hepatoblastoma	Enrichment	BRCA2, FANCA, RECQL4	2.64
47	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	POLG, TWNK	2.63
48	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF, WT1	2.63
49	Hemangioma, capillary infantile	Enrichment	ANTXR1, KDR	2.63
50	Limited scleroderma	Enrichment	CAV1, HLA-DRB1	2.63
51	Congenital nervous system abnormality	Enrichment	EIF2B2, HSD17B4, POLG, PTEN, TSC2, WDR62	2.63
52	Nervous system disease	Enrichment	EIF2B2, HSD17B4, POLG, PTEN, TSC2, WDR62	2.63
53	Body mass index quantitative trait locus 11	Enrichment	BDNF, GNAS, PCSK1, POLG	2.43
54	Isolated growth hormone deficiency, type ia	Enrichment	BRCA2, XRCC4	2.37
55	Difference of sex development	Enrichment	NR5A1, WT1	2.37
56	Colorectal cancer	Enrichment	AKT1, ATM, BLM, BRCA1, BRCA2	2.30
57	Cowden syndrome	Enrichment	AKT1, PTEN	2.26
58	Heritable pulmonary arterial hypertension	Enrichment	BMPR2, CAV1	2.08
59	Meningioma	Enrichment	AKT1, PTEN	2.01
60	Blepharophimosis, ptosis, and epicanthus inversus	Enrichment	FOXL2	1.89
61	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	1.89
62	Rapp-hodgkin syndrome	Enrichment	TP63	1.89
63	Ankyloblepharon-ectodermal defects-cleft lip/palate	Enrichment	TP63	1.89
64	Proteus syndrome	Enrichment	AKT1	1.89
65	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	1.89
66	Bloom syndrome	Enrichment	BLM	1.89
67	Gapo syndrome	Enrichment	ANTXR1	1.89
68	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	1.89
69	Tarsal-carpal coalition syndrome	Enrichment	NOG	1.89
70	Bamforth-lazarus syndrome	Enrichment	FOXE1	1.89
71	Vacterl association with hydrocephalus	Enrichment	PTEN	1.89
72	Intellectual developmental disorder, x-linked, syndromic 35	Enrichment	RPL10	1.89
73	Rapadilino syndrome	Enrichment	RECQL4	1.89
74	Split-hand/foot malformation 4	Enrichment	TP63	1.89
75	46,xy sex reversal 5	Enrichment	CBX2	1.89
76	Ankyloblepharon filiforme adnatum and cleft palate	Enrichment	TP63	1.89
77	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.89
78	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	1.89
79	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	1.89
80	Mastocytosis, cutaneous	Enrichment	KIT	1.89
81	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	1.89
82	Acromesomelic dysplasia 3	Enrichment	BMPR1B	1.89
83	Brachydactyly, type b2	Enrichment	NOG	1.89
84	Osseous heteroplasia, progressive	Enrichment	GNAS	1.89
85	Premature ovarian failure 5	Enrichment	NOBOX	1.89
86	Reticular dystrophy of retinal pigment epithelium	Enrichment	RCBTB1	1.89
87	Hajdu-cheney syndrome	Enrichment	NOTCH2	1.89
88	Alagille syndrome 2	Enrichment	NOTCH2	1.89
89	Autism 15	Enrichment	CNTNAP2	1.89
90	Spermatogenic failure 2	Enrichment	MSH4	1.89
91	Glioma susceptibility 3	Enrichment	BRCA2	1.89
92	Ivic syndrome	Enrichment	SALL4	1.89
93	Adult syndrome	Enrichment	TP63	1.89
94	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Enrichment	WDR62	1.89
95	Marinesco-sjogren syndrome	Enrichment	SIL1	1.89
96	Mirror movements 2	Enrichment	RAD51	1.89
97	Multiple fibroadenomas of the breast	Enrichment	PRLR	1.89
98	Symphalangism, proximal, 1a	Enrichment	NOG	1.89
99	Multiple synostoses syndrome 1	Enrichment	NOG	1.89
100	46,xx sex reversal 4	Enrichment	NR5A1	1.89
101	Brachydactyly, type a1, d	Enrichment	BMPR1B	1.89
102	Spermatogenic failure 8	Enrichment	NR5A1	1.89
103	Ovarian dysgenesis 1	Enrichment	FSHR	1.89
104	Pulmonary hypertension, primary, 3	Enrichment	CAV1	1.89
105	Atrioventricular septal defect 4	Enrichment	GATA4	1.89
106	Fanconi anemia, complementation group g	Enrichment	FANCG	1.89
107	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.89
108	Premature ovarian failure 18	Enrichment	C14orf39	1.89
109	Retinal dystrophy with or without extraocular anomalies	Enrichment	RCBTB1	1.89
110	Fanconi anemia, complementation group r	Enrichment	RAD51	1.89
111	Fanconi anemia, complementation group u	Enrichment	XRCC2	1.89
112	Twinning, dizygotic	Enrichment	FSHR	1.89
113	Leukoencephalopathy with vanishing white matter 3	Enrichment	EIF2B3	1.89
114	Autism x-linked 5	Enrichment	RPL10	1.89
115	Spermatogenic failure 28	Enrichment	FANCM	1.89
116	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.89
117	Ovarian dysgenesis 5	Enrichment	SOHLH1	1.89
118	Premature ovarian failure 15	Enrichment	FANCM	1.89
119	Ovarian dysgenesis 2	Enrichment	BMP15	1.89
120	Premature ovarian failure 17	Enrichment	XRCC2	1.89
121	Thyroid dyshormonogenesis 3	Enrichment	TG	1.89
122	Hypothyroidism, congenital, nongoitrous, 4	Enrichment	TSHB	1.89
123	Premature ovarian failure 2a	Enrichment	DIAPH2	1.89
124	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	Enrichment	TWNK	1.89
125	Spermatogenic failure 50	Enrichment	XRCC2	1.89
126	Infant-type hemispheric glioma	Enrichment	BRCA1	1.89
127	Hyperprolactinemia	Enrichment	PRLR	1.89
128	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	1.89
129	Pancreatic cancer 2	Enrichment	BRCA2	1.89
130	Spermatogenic failure 15	Enrichment	SYCE1	1.89
131	Ovarian dysgenesis 4	Enrichment	MCM9	1.89
132	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	Enrichment	TP63	1.89
133	Premature ovarian failure 20	Enrichment	MSH4	1.89
134	Papillary tumor of the pineal region	Enrichment	PTEN	1.89
135	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	1.89
136	Premature ovarian failure 19	Enrichment	HSF2BP	1.89
137	Neutropenia, severe congenital, 3, autosomal recessive	Enrichment	HAX1	1.89
138	Premature ovarian failure 8	Enrichment	STAG3	1.89
139	Limb-mammary syndrome	Enrichment	TP63	1.89
140	Pulmonary alveolar proteinosis, acquired	Enrichment	HLA-DRB1	1.89
141	Perrault syndrome 5	Enrichment	TWNK	1.89
142	Premature ovarian failure 6	Enrichment	FIGLA	1.89
143	Ovarian dysgenesis 8	Enrichment	ESR2	1.89
144	Ovarian hyperstimulation syndrome	Enrichment	FSHR	1.89
145	Galloway-mowat syndrome 7	Enrichment	NUP107	1.89
146	Meacham syndrome	Enrichment	WT1	1.89
147	Atrial septal defect 2	Enrichment	GATA4	1.89
148	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	1.89
149	Premature ovarian failure 10	Enrichment	MCM8	1.89
150	Premature ovarian failure 21	Enrichment	TP63	1.89
151	Cowden syndrome 6	Enrichment	AKT1	1.89
152	Combined oxidative phosphorylation deficiency 8	Enrichment	AARS2	1.89
153	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	1.89
154	Amenorrhea	Enrichment	FSHR	1.89
155	Spermatogenic failure 52	Enrichment	C14orf39	1.89
156	Premature ovarian failure 7	Enrichment	NR5A1	1.89
157	Combined oxidative phosphorylation deficiency 5	Enrichment	MRPS22	1.89
158	Ovarian dysgenesis 9	Enrichment	SPIDR	1.89
159	Endometrial serous adenocarcinoma	Enrichment	ATM	1.89
160	Premature ovarian failure 25	Enrichment	SPATA22	1.89
161	Disorders of gnas inactivation	Enrichment	GNAS	1.89
162	Glioma susceptibility 2	Enrichment	PTEN	1.89
163	Nephrotic syndrome, type 11	Enrichment	NUP107	1.89
164	Premature ovarian failure 12	Enrichment	SYCE1	1.89
165	Hemangioma of liver	Enrichment	GJA4	1.89
166	Fanconi anemia, complementation group l	Enrichment	FANCL	1.89
167	Orofacial cleft 8	Enrichment	TP63	1.89
168	Atypical werner syndrome	Enrichment	LMNA	1.89
169	Thyroid cancer, nonmedullary, 4	Enrichment	FOXE1	1.89
170	8p23.1 microdeletion syndrome	Enrichment	GATA4	1.89
171	Spermatogenic failure 61	Enrichment	STAG3	1.89
172	Ovarian dysgenesis 6	Enrichment	NUP107	1.89
173	Spermatogenic failure 32	Enrichment	SOHLH1	1.89
174	Extraoral halitosis due to methanethiol oxidase deficiency	Enrichment	SELENBP1	1.89
175	Ovarian dysgenesis 7	Enrichment	MRPS22	1.89
176	Apraxia	Enrichment	SIL1	1.89
177	Chronic mast cell leukemia	Enrichment	KIT	1.89
178	Premature ovarian failure 14	Enrichment	GDF9	1.89
179	Tufted angioma of skin	Enrichment	KDR	1.89
180	Maple syrup urine disease, type ib	Enrichment	BCKDHB	1.89
181	Premature ovarian failure 16	Enrichment	BNC1	1.89
182	Premature ovarian failure 9	Enrichment	HFM1	1.89
183	Immature teratoma of ovary	Enrichment	BMP15	1.89
184	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Enrichment	CYP7A1	1.89
185	Aars2-related disorder	Enrichment	AARS2	1.89
186	B-lymphoblastic leukemia/lymphoma with etv6-runx1	Enrichment	RECQL4	1.89
187	Mandibuloacral dysplasia	Enrichment	LMNA	1.89
188	Atrioventricular block	Enrichment	LMNA	1.89
189	Spermatogenic failure 96	Enrichment	SPATA22	1.89
190	Mitochondrial dna depletion syndrome, hepatocerebrorenal form	Enrichment	TWNK	1.89
191	Leukoencephalopathy with vanishing white matter 2	Enrichment	EIF2B2	1.89
192	Familial hyperprolactinemia	Enrichment	PRLR	1.89
193	Catechol-o-methyltransferase activity, variation in	Enrichment	COMT	1.89
194	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	Enrichment	RPL10	1.89
195	Tp63-related disorders	Enrichment	TP63	1.89
196	Premature ovarian failure 24	Enrichment	SYCP2L	1.89
197	Isolated bone marrow mastocytosis	Enrichment	KIT	1.89
198	Primary pulmonary hypertension	Enrichment	BMPR2	1.89
199	B-cell non-hodgkin lymphoma	Enrichment	ATM	1.89
200	Smoldering systemic mastocytosis	Enrichment	KIT	1.89
201	Undifferentiated pleomorphic sarcoma	Enrichment	RECQL4	1.89
202	Skin hemangioma	Enrichment	GJA4	1.89
203	Pulmonary hypertension	Enrichment	BMPR2	1.89
204	Xq27.3q28 duplication syndrome	Enrichment	FMR1	1.89
205	Drug- or toxin-induced pulmonary arterial hypertension	Enrichment	BMPR2	1.89
206	Childhood myocerebrohepatopathy spectrum	Enrichment	POLG	1.89
207	Mastocytosis	Enrichment	KIT	1.89
208	Non-classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	1.89
209	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	1.89
210	Severe congenital neutropenia 3	Enrichment	HAX1	1.89
211	Malignant fibrous histiocytoma	Enrichment	RECQL4	1.89
212	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	1.89
213	Cutaneous mastocytoma	Enrichment	KIT	1.89
214	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	1.89
215	Monostotic fibrous dysplasia	Enrichment	GNAS	1.89
216	Pitt-hopkins-like syndrome	Enrichment	CNTNAP2	1.89
217	Sall4-related disorders	Enrichment	SALL4	1.89
218	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	Enrichment	RPL10	1.89
219	Typical urticaria pigmentosa	Enrichment	KIT	1.89
220	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.89
221	Nodular urticaria pigmentosa	Enrichment	KIT	1.89
222	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	1.89
223	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.89
224	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.89
225	Acute mast cell leukemia	Enrichment	KIT	1.89
226	Mazabraud syndrome	Enrichment	GNAS	1.89
227	Spinocerebellar ataxia with epilepsy	Enrichment	POLG	1.89
228	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.89
229	Recessive mitochondrial ataxia syndrome	Enrichment	POLG	1.89
230	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.89
231	Primary peritoneal carcinoma	Enrichment	BRCA1	1.89
232	Classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	1.89
233	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	1.89
234	Agnosia	Enrichment	SIL1	1.89
235	Laminopathy	Enrichment	LMNA	1.89
236	Testis seminoma	Enrichment	KIT	1.89
237	Medulloblastoma	Enrichment	BRCA2, WRN	1.88
238	Lipoid congenital adrenal hyperplasia	Enrichment	CYP17A1, STAR	1.88
239	Heart disease	Enrichment	GATA4, RECQL4	1.88
240	Cataract	Enrichment	SIL1, WRN	1.88
241	Pituitary stalk interruption syndrome	Enrichment	FANCA, FANCG	1.88
242	Wilms tumor 1	Enrichment	BRCA2, WT1	1.82
243	Lynch syndrome	Enrichment	FANCM, TGFBR2	1.82
244	Male infertility with spermatogenesis disorder	Enrichment	FANCM, TP63	1.82
245	Hypoparathyroidism, familial isolated, 1	Enrichment	AIRE	1.60
246	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	Enrichment	TP63	1.60
247	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.60
248	Precocious puberty, male-limited	Enrichment	LHCGR	1.60
249	Baller-gerold syndrome	Enrichment	RECQL4	1.60
250	Woodhouse-sakati syndrome	Enrichment	DCAF17	1.60
251	Leydig cell hypoplasia, type i	Enrichment	LHCGR	1.60
252	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	1.60
253	Denys-drash syndrome	Enrichment	WT1	1.60
254	Dihydrolipoamide dehydrogenase deficiency	Enrichment	BCKDHB	1.60
255	Optic disc anomalies with retinal and/or macular dystrophy	Enrichment	C14orf39	1.60
256	Canavan disease	Enrichment	SPATA22	1.60
257	Hypogonadotropic hypogonadism 24 with or without anosmia	Enrichment	FSHB	1.60
258	Galactosemia i	Enrichment	GALT	1.60
259	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	BMPR2	1.60
260	Spermatogenic failure 4	Enrichment	HFM1	1.60
261	Toe syndactyly, telecanthus, and anogenital and renal malformations	Enrichment	STAR	1.60
262	Ovarian germ cell cancer	Enrichment	FANCM	1.60
263	Nephrotic syndrome, type 4	Enrichment	WT1	1.60
264	Vacterl association, x-linked, with or without hydrocephalus	Enrichment	FANCL	1.60
265	Rothmund-thomson syndrome, type 2	Enrichment	RECQL4	1.60
266	Fanconi anemia, complementation group i	Enrichment	POLG	1.60
267	Loeys-dietz syndrome 2	Enrichment	TGFBR2	1.60
268	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS	1.60
269	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.60
270	Premature ovarian failure 3	Enrichment	FOXL2	1.60
271	Piebald trait	Enrichment	KIT	1.60
272	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.60
273	Heart-hand syndrome, slovenian type	Enrichment	LMNA	1.60
274	Lymphangioleiomyomatosis	Enrichment	TSC2	1.60
275	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	1.60
276	Duane-radial ray syndrome	Enrichment	SALL4	1.60
277	Ovarian dysgenesis 3	Enrichment	PSMC3IP	1.60
278	Fibrodysplasia ossificans progressiva	Enrichment	BMPR2	1.60
279	Frasier syndrome	Enrichment	WT1	1.60
280	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	1.60
281	Orthostatic hypotension 1	Enrichment	DBH	1.60
282	Myasthenic syndrome, congenital, 22	Enrichment	PREPL	1.60
283	Lig4 syndrome	Enrichment	XRCC4	1.60
284	Hydrops, lactic acidosis, and sideroblastic anemia	Enrichment	LARS2	1.60
285	Sarcoidosis 1	Enrichment	HLA-DRB1	1.60
286	Angioma, tufted	Enrichment	KDR	1.60
287	Fatty liver disease 1	Enrichment	ATG7	1.60
288	Pitt-hopkins-like syndrome 1	Enrichment	CNTNAP2	1.60
289	Heterotaxy, visceral, 4, autosomal	Enrichment	ACVR2B	1.60
290	Leukoencephalopathy, progressive, with ovarian failure	Enrichment	AARS2	1.60
291	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	1.60
292	Restrictive dermopathy 2	Enrichment	LMNA	1.60
293	Premature ovarian failure 13	Enrichment	MSH5	1.60
294	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	1.60
295	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1	Enrichment	POLG	1.60
296	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.60
297	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	1.60
298	Leukoencephalopathy with vanishing white matter 4	Enrichment	EIF2B4	1.60
299	Werner syndrome	Enrichment	WRN	1.60
300	Oocyte/zygote/embryo maturation arrest 3	Enrichment	ZP3	1.60
301	Perrault syndrome 6	Enrichment	ERAL1	1.60
302	Pulmonary venoocclusive disease 1	Enrichment	BMPR2	1.60
303	Perrault syndrome 3	Enrichment	CLPP	1.60
304	Pancreatic cancer 4	Enrichment	BRCA1	1.60
305	Cornea plana	Enrichment	C14orf39	1.60
306	Immunodeficiency 127	Enrichment	TNF	1.60
307	Mitochondrial dna depletion syndrome 11	Enrichment	MGME1	1.60
308	Bladder exstrophy	Enrichment	TP63	1.60
309	Diffuse midline glioma, h3 k27m-mutant	Enrichment	BRCA2	1.60
310	Spermatogenic failure	Enrichment	SOHLH1	1.60
311	Spermatogenic failure 74	Enrichment	MSH5	1.60
312	Dopamine beta-hydroxylase deficiency	Enrichment	DBH	1.60
313	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	1.60
314	Spinocerebellar ataxia, autosomal recessive 31	Enrichment	ATG7	1.60
315	Pseudohypoparathyroidism	Enrichment	GNAS	1.60
316	Depressive disorder	Enrichment	TWNK	1.60
317	Skraban-deardorff syndrome	Enrichment	WDR62	1.60
318	Autoimmune thyroid disease 3	Enrichment	TG	1.60
319	High grade glioma	Enrichment	ATM	1.60
320	Fanconi anemia, complementation group d1	Enrichment	BRCA2	1.60
321	Bullous pemphigoid	Enrichment	HLA-DRB1	1.60
322	Perrault syndrome 4	Enrichment	LARS2	1.60
323	T-cell prolymphocytic leukemia	Enrichment	ATM	1.60
324	Proximal symphalangism	Enrichment	NOG	1.60
325	Polg-related disorders	Enrichment	POLG	1.60
326	Spermatogenic failure 22	Enrichment	MEIOB	1.60
327	Autosomal recessive progressive external ophthalmoplegia	Enrichment	POLG	1.60
328	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.60
329	Fissured tongue	Enrichment	TP63	1.60
330	Peritoneum cancer	Enrichment	BRCA1	1.60
331	Leydig cell hypoplasia type ii	Enrichment	LHCGR	1.60
332	Cockayne syndrome type 3	Enrichment	ERCC6	1.60
333	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	Enrichment	C14orf39	1.60
334	Galactosemia	Enrichment	GALT	1.60
335	Multifocal pattern dystrophy simulating fundus flavimaculatus	Enrichment	UBR2	1.60
336	Pediatric multiple sclerosis	Enrichment	HLA-DRB1	1.60
337	Familial partial lipodystrophy	Enrichment	LMNA	1.60
338	2p21 microdeletion syndrome without cystinuria	Enrichment	PREPL	1.60
339	Vacterl with hydrocephalus	Enrichment	PTEN	1.60
340	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.60
341	Premature ovarian failure 23	Enrichment	MEIOB	1.60
342	Malignant germ cell tumor of ovary	Enrichment	FANCM	1.60
343	Pulmonary venoocclusive disease	Enrichment	BMPR2	1.60
344	Malignant granulosa cell tumor of the ovary	Enrichment	FOXL2	1.60
345	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.60
346	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	1.60
347	Microcephalic primordial dwarfism-insulin resistance syndrome	Enrichment	XRCC4	1.60
348	Desmoplastic small round cell tumor	Enrichment	WT1	1.60
349	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	BMPR2	1.60
350	Neuroendocrine tumor of pancreas	Enrichment	BRCA2	1.60
351	Myeloma, multiple	Enrichment	ATM, BRCA2, RECQL4	1.46
352	Brachydactyly, type a1	Enrichment	BMPR1B	1.42
353	Mccune-albright syndrome	Enrichment	GNAS	1.42
354	Brachydactyly, type c	Enrichment	BMPR1B	1.42
355	Retinoblastoma	Enrichment	FANCM	1.42
356	Thyroid carcinoma, familial medullary	Enrichment	ESR2	1.42
357	Mesothelioma, malignant	Enrichment	WT1	1.42
358	Ataxia-telangiectasia	Enrichment	ATM	1.42
359	Juvenile polyposis syndrome	Enrichment	BMPR1A	1.42
360	Acromesomelic dysplasia 2a	Enrichment	BMPR1B	1.42
361	Acromesomelic dysplasia 2c	Enrichment	BMPR1B	1.42
362	Maple syrup urine disease, type ia	Enrichment	BCKDHB	1.42
363	Nijmegen breakage syndrome	Enrichment	NBN	1.42
364	Acromesomelic dysplasia 2b	Enrichment	BMPR1B	1.42
365	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	AIRE	1.42
366	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	Enrichment	CYP17A1	1.42
367	D-bifunctional protein deficiency	Enrichment	HSD17B4	1.42
368	Polycythemia vera	Enrichment	ATM	1.42
369	Tuberous sclerosis 1	Enrichment	TSC2	1.42
370	Leukoencephalopathy, hereditary diffuse, with spheroids 1	Enrichment	AARS2	1.42
371	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	WNT4	1.42
372	De sanctis-cacchione syndrome	Enrichment	ERCC6	1.42
373	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.42
374	46,xx sex reversal 1	Enrichment	NR5A1	1.42
375	Intellectual developmental disorder, x-linked 109	Enrichment	AFF2	1.42
376	Restrictive dermopathy 1	Enrichment	LMNA	1.42
377	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP2	1.42
378	Uv-sensitive syndrome 1	Enrichment	ERCC6	1.42
379	Mitochondrial dna depletion syndrome 7	Enrichment	TWNK	1.42
380	Body mass index quantitative trait locus 12	Enrichment	PCSK1	1.42
381	Psoriatic arthritis	Enrichment	TNF	1.42
382	Aromatase excess syndrome	Enrichment	CYP19A1	1.42
383	Hypotonia-cystinuria syndrome	Enrichment	PREPL	1.42
384	Estrogen resistance	Enrichment	ESR1	1.42
385	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	1.42
386	Tuberous sclerosis 2	Enrichment	TSC2	1.42
387	Infantile cerebellar-retinal degeneration	Enrichment	POLR3H	1.42
388	Optic atrophy 9	Enrichment	POLR3H	1.42
389	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	1.42
390	Tumor predisposition syndrome 1	Enrichment	BRCA2	1.42
391	Proprotein convertase 1/3 deficiency	Enrichment	PCSK1	1.42
392	Koolen-de vries syndrome	Enrichment	ATM	1.42
393	Uv-sensitive syndrome	Enrichment	ERCC6	1.42
394	Premature ovarian failure 11	Enrichment	ERCC6	1.42
395	Chronic progressive external ophthalmoplegia	Enrichment	TWNK	1.42
396	Loeys-dietz syndrome 1	Enrichment	TGFBR2	1.42
397	Hamartoma	Enrichment	TSC2	1.42
398	Testicular germ cell cancer	Enrichment	KIT	1.42
399	Xanthinuria, type ii	Enrichment	TSC2	1.42
400	Adenocarcinoma	Enrichment	ATM	1.42
401	Duane retraction syndrome	Enrichment	SALL4	1.42
402	Gonadal dysgenesis	Enrichment	FSHR	1.42
403	Aromatase deficiency	Enrichment	CYP19A1	1.42
404	Immunodeficiency, common variable, 11	Enrichment	IL21	1.42
405	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.42
406	Bap1 tumor predisposition syndrome	Enrichment	BRCA2	1.42
407	Restrictive dermopathy	Enrichment	LMNA	1.42
408	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.42
409	Idiopathic camptocormia	Enrichment	POLG	1.42
410	Autoimmune polyendocrine syndrome type 1	Enrichment	AIRE	1.42
411	Sclerocornea	Enrichment	C14orf39	1.42
412	Atypical hypotonia-cystinuria syndrome	Enrichment	PREPL	1.42
413	Familial papillary or follicular thyroid carcinoma	Enrichment	FOXE1	1.42
414	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	BMPR2	1.42
415	Keratoacanthoma	Enrichment	NOTCH2	1.42
416	Vogt-koyanagi-harada disease	Enrichment	HLA-DRB1	1.42
417	Intermittent maple syrup urine disease	Enrichment	BCKDHB	1.42
418	Classic maple syrup urine disease	Enrichment	BCKDHB	1.42
419	Congenital cornea plana	Enrichment	C14orf39	1.42
420	Tetralogy of fallot	Enrichment	GATA4, KDR	1.37
421	Kaposi sarcoma	Enrichment	IL6	1.30
422	Mirror movements 1	Enrichment	RAD51	1.30
423	Aniridia 1	Enrichment	WT1	1.30
424	Brachydactyly, type a2	Enrichment	BMPR1B	1.30
425	Hutchinson-gilford progeria syndrome	Enrichment	LMNA	1.30
426	Mulibrey nanism	Enrichment	TRIM37	1.30
427	Cystinuria	Enrichment	PREPL	1.30
428	Chordoma	Enrichment	BRCA2	1.30
429	Temporal arteritis	Enrichment	HLA-DRB1	1.30
430	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LMNA	1.30
431	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.30
432	Microtia-anotia	Enrichment	LMNA	1.30
433	Fragile x tremor/ataxia syndrome	Enrichment	FMR1	1.30
434	Focal cortical dysplasia, type ii	Enrichment	TSC2	1.30
435	Macular degeneration, age-related, 5	Enrichment	ERCC6	1.30
436	Oocyte/zygote/embryo maturation arrest 1	Enrichment	ZP3	1.30
437	Spermatogenic failure 1	Enrichment	NR5A1	1.30
438	Mantle cell lymphoma	Enrichment	ATM	1.30
439	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.30
440	Blepharophimosis	Enrichment	FOXL2	1.30
441	Multiple synostoses syndrome	Enrichment	NOG	1.30
442	Fragile x-associated tremor/ataxia syndrome	Enrichment	FMR1	1.30
443	Emery-dreifuss muscular dystrophy	Enrichment	LMNA	1.30
444	Generalized epilepsy	Enrichment	POLG	1.30
445	Tuberous sclerosis	Enrichment	TSC2	1.30
446	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.30
447	2p21 microdeletion syndrome	Enrichment	PREPL	1.30
448	Intermediate maple syrup urine disease	Enrichment	BCKDHB	1.30
449	Sick sinus syndrome	Enrichment	LMNA	1.30
450	Cerebral malaria	Enrichment	TNF	1.30
451	Vacterl association	Enrichment	FANCL	1.30
452	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.30
453	Transposition of the great arteries	Enrichment	GATA4	1.30
454	Isolated focal cortical dysplasia type ii	Enrichment	TSC2	1.30
455	Glioma	Enrichment	PTEN	1.30
456	Cleft lip and alveolus	Enrichment	TP63	1.30
457	Oculomotor apraxia	Enrichment	ATM	1.30
458	Pseudomyogenic hemangioendothelioma	Enrichment	SERPINE1	1.30
459	Cockayne syndrome a	Enrichment	ERCC6	1.21
460	Vater/vacterl association	Enrichment	FANCL	1.21
461	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	SALL4	1.21
462	Fragile x syndrome	Enrichment	FMR1	1.21
463	Rhabdomyosarcoma 2	Enrichment	FOXO1	1.21
464	Macrocephaly/autism syndrome	Enrichment	PTEN	1.21
465	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.21
466	Leber congenital amaurosis 10	Enrichment	WT1	1.21
467	Narcolepsy 2	Enrichment	HLA-DRB1	1.21
468	Mitochondrial complex iii deficiency, nuclear type 4	Enrichment	COX10	1.21
469	Pontocerebellar hypoplasia, type 2d	Enrichment	PCCA	1.21
470	Ventricular septal defect 1	Enrichment	GATA4	1.21
471	Congenital heart defects, multiple types, 4	Enrichment	GATA4	1.21
472	Follicular lymphoma	Enrichment	HLA-DRB1	1.21
473	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	1.21
474	Acute myeloid leukemia with maturation	Enrichment	KIT	1.21
475	Glioblastoma	Enrichment	ATM	1.21
476	Pseudohermaphroditism	Enrichment	LHCGR	1.21
477	Hemangioma	Enrichment	PTEN	1.21
478	Histiocytoid hemangioma	Enrichment	LMNA	1.21
479	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	NR5A1	1.21
480	Vascular dementia	Enrichment	TNF	1.21
481	Acute megakaryocytic leukemia	Enrichment	PTEN	1.21
482	Cleft upper lip	Enrichment	TP63	1.21
483	Hemimegalencephaly	Enrichment	PTEN	1.21
484	Familial glucocorticoid deficiency	Enrichment	STAR	1.21
485	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.21
486	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A	1.21
487	Familial cerebral saccular aneurysm	Enrichment	TGFBR3	1.21
488	Lung cancer	Enrichment	BRCA1, ERCC6	1.20
489	Genetic steroid-resistant nephrotic syndrome	Enrichment	NUP107, WT1	1.16
490	Cockayne syndrome b	Enrichment	ERCC6	1.13
491	Kabuki syndrome 1	Enrichment	BRCA2	1.13
492	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	1.13
493	Machado-joseph disease	Enrichment	POLG	1.13
494	Cowden syndrome 1	Enrichment	PTEN	1.13
495	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	CYP17A1	1.13
496	Cerebrooculofacioskeletal syndrome 1	Enrichment	ERCC6	1.13
497	Type 1 diabetes mellitus	Enrichment	IL6	1.13
498	Testicular germ cell tumor	Enrichment	KIT	1.13
499	Wilms tumor 5	Enrichment	WT1	1.13
500	Mitochondrial dna depletion syndrome 1	Enrichment	POLG	1.13
501	Mitochondrial dna depletion syndrome	Enrichment	POLG	1.13
502	Familial thyroid dyshormonogenesis	Enrichment	TG	1.13
503	Clear cell renal cell carcinoma	Enrichment	ATM	1.13
504	Breast adenocarcinoma	Enrichment	AKT1	1.13
505	46,xy disorder of sex development	Enrichment	NR5A1	1.13
506	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	CYP17A1	1.13
507	Esophageal cancer	Enrichment	TGFBR2	1.07
508	Bethlem myopathy 1a	Enrichment	LMNA	1.07
509	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.07
510	Thyroid cancer, nonmedullary, 2	Enrichment	PTEN	1.07
511	Mitochondrial dna depletion syndrome 4a	Enrichment	POLG	1.07
512	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	FOXE1	1.07
513	Squamous cell carcinoma, head and neck	Enrichment	PTEN	1.07
514	Coats disease	Enrichment	RCBTB1	1.07
515	Gastrointestinal stromal tumor	Enrichment	KIT	1.07
516	Renal cell carcinoma, papillary, 1	Enrichment	ATM	1.07
517	Brachydactyly	Enrichment	GNAS	1.07
518	Third-degree atrioventricular block	Enrichment	TWNK	1.07
519	Neutropenia	Enrichment	HAX1	1.07
520	Polycystic kidney disease 1	Enrichment	TSC2	1.07
521	Cockayne syndrome	Enrichment	ERCC6	1.07
522	Follicular thyroid carcinoma	Enrichment	PTEN	1.07
523	Systemic lupus erythematosus	Enrichment	HLA-DRB1, TNF	1.05
524	Narcolepsy 1	Enrichment	HLA-DRB1	1.01
525	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.01
526	Mitochondrial dna depletion syndrome 4b	Enrichment	POLG	1.01
527	Exudative vitreoretinopathy	Enrichment	RCBTB1	1.01
528	Severe congenital neutropenia	Enrichment	HAX1	1.01
529	Cryptorchidism	Enrichment	INSL3	1.01
530	Congenital muscular dystrophy	Enrichment	LMNA	1.01
531	Hypothyroidism	Enrichment	TG	1.01
532	Myocarditis	Enrichment	LMNA	1.01
533	Isolated split hand-split foot malformation	Enrichment	TP63	1.01
534	Mitochondrial disease	Enrichment	AARS2, POLG, TWNK	1.00
535	Type 2 diabetes mellitus	Enrichment	IL6, WRN	1.00
536	Tooth agenesis, selective, 1	Enrichment	BMPR2	0.96
537	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	BRCA2	0.96
538	Cryptorchidism, unilateral or bilateral	Enrichment	INSL3	0.96
539	Inflammatory bowel disease 1	Enrichment	IL6	0.96
540	Polydactyly	Enrichment	BRCA2	0.96
541	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	LMNA	0.96
542	Leukemia, acute lymphoblastic 3	Enrichment	WT1	0.96
543	Loeys-dietz syndrome	Enrichment	TGFBR2	0.96
544	Adult hepatocellular carcinoma	Enrichment	TSC2	0.96
545	Congenital central hypoventilation syndrome	Enrichment	BDNF	0.96
546	Primary hyperaldosteronism	Enrichment	GNAS	0.96
547	Colonic benign neoplasm	Enrichment	ATM	0.96
548	Autosomal dominant cerebellar ataxia	Enrichment	POLG	0.96
549	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	POLG	0.96
550	Lynch syndrome 1	Enrichment	ATM	0.92
551	Marfan syndrome	Enrichment	TGFBR2	0.92
552	Leukemia, chronic lymphocytic	Enrichment	ATM	0.92
553	Aplastic anemia	Enrichment	NBN	0.92
554	Galloway-mowat syndrome	Enrichment	NUP107	0.92
555	Neurodegeneration with brain iron accumulation	Enrichment	DCAF17	0.92
556	Melanoma	Enrichment	PTEN	0.92
557	Isolated tracheo-esophageal fistula	Enrichment	BRCA2	0.92
558	Migraine with or without aura 1	Enrichment	ESR1	0.88
559	Immune deficiency disease	Enrichment	ATM	0.88
560	Asthma	Enrichment	TNF	0.88
561	Meningioma, familial	Enrichment	PTEN	0.88
562	Leukemia, acute lymphoblastic	Enrichment	NBN	0.88
563	Mitochondrial myopathy	Enrichment	LARS2	0.88
564	Cardiac conduction defect	Enrichment	LMNA	0.85
565	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	0.85
566	Digeorge syndrome	Enrichment	COMT	0.85
567	Congenital hypothyroidism	Enrichment	TG	0.85
568	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LMNA	0.85
569	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LMNA	0.85
570	Lip and oral cavity carcinoma	Enrichment	KIT	0.85
571	Pulmonary hypertension, primary, 1	Enrichment	BMPR2	0.81
572	Alzheimer's disease	Enrichment	TNF	0.81
573	Oligospermia	Enrichment	MSH4	0.81
574	Autism spectrum disorder	Enrichment	CNTNAP2, PTEN, TSC2	0.79
575	Multiple sclerosis	Enrichment	HLA-DRB1	0.78
576	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4	0.78
577	Periventricular nodular heterotopia	Enrichment	BRCA1	0.78
578	Cox deficiency, benign infantile mitochondrial myopathy	Enrichment	COX10	0.78
579	Cleft lip/palate	Enrichment	TP63	0.78
580	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LMNA	0.78
581	Renal cell carcinoma, nonpapillary	Enrichment	ATM	0.76
582	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.76
583	Kidney disease	Enrichment	WT1	0.76
584	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	LMNA	0.73
585	Gliosarcoma	Enrichment	ATM	0.73
586	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	0.71
587	Cataract 44	Enrichment	PGRMC1	0.71
588	Syndromic intellectual disability	Enrichment	PTH2R	0.71
589	Giant cell glioblastoma	Enrichment	ATM	0.71
590	Heart, malformation of	Enrichment	GATA4	0.69
591	Human immunodeficiency virus type 1	Enrichment	CXCL12	0.69
592	Neuromuscular disease	Enrichment	LMNA	0.69
593	Patent foramen ovale	Enrichment	GATA4	0.69
594	Arteriovenous malformations of the brain	Enrichment	IL6	0.66
595	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	LMNA	0.66
596	Esophageal atresia/tracheoesophageal fistula	Enrichment	BRCA2	0.66
597	Ehlers-danlos syndrome	Enrichment	TGFBR2	0.66
598	Focal segmental glomerulosclerosis	Enrichment	WT1	0.64
599	Autism	Enrichment	CNTNAP2, SPATA22	0.63
600	Cardiomyopathy, dilated, 1a	Enrichment	LMNA	0.63
601	Lissencephaly	Enrichment	NBN	0.63
602	Hepatocellular carcinoma	Enrichment	NBN	0.61
603	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	COX10	0.61
604	Myocardial infarction	Enrichment	ESR1	0.61
605	Visceral heterotaxy	Enrichment	ACVR2B	0.61
606	Microphthalmia	Enrichment	C14orf39	0.61
607	Brittle bone disorder	Enrichment	EIF2B2	0.59
608	Malaria	Enrichment	TNF	0.59
609	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA	0.58
610	Familial atrial fibrillation	Enrichment	GATA4	0.58
611	Muscular dystrophy	Enrichment	LMNA	0.58
612	Rare genetic deafness	Enrichment	HSD17B4, LARS2	0.57
613	Brugada syndrome	Enrichment	LMNA	0.55
614	Strabismus	Enrichment	SIL1	0.53
615	Severe covid-19	Enrichment	RECQL4	0.51
616	Differentiated thyroid carcinoma	Enrichment	FOXE1	0.51
617	Long qt syndrome	Enrichment	LMNA	0.48
618	Primary autosomal recessive microcephaly	Enrichment	WDR62	0.47
619	Connective tissue disease	Enrichment	TGFBR2	0.47
620	Peripheral nervous system disease	Enrichment	LMNA	0.47
621	Neuropathy	Enrichment	LMNA	0.47
622	Male infertility	Enrichment	NR5A1	0.45
623	Left ventricular noncompaction	Enrichment	LMNA	0.44
624	Non-syndromic x-linked intellectual disability	Enrichment	AGTR2	0.43
625	Non-syndromic genetic deafness	Enrichment	LARS2	0.43
626	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Enrichment	POLG	0.41
627	Cerebral palsy	Enrichment	BRCA2	0.40
628	Leukemia, acute myeloid	Enrichment	KIT	0.40
629	Charcot-marie-tooth disease	Enrichment	LMNA	0.39
630	Benign epilepsy with centrotemporal spikes	Enrichment	CNTNAP2	0.39
631	Bardet-biedl syndrome	Enrichment	COMT	0.38
632	Hereditary spastic paraplegia	Enrichment	POLG	0.38
633	Nonsyndromic hearing loss	Enrichment	LARS2	0.38
634	Centralopathic epilepsy	Enrichment	CNTNAP2	0.37
635	Hypertrophic cardiomyopathy	Enrichment	POLG	0.37
636	Optic atrophy plus syndrome	Enrichment	POLR3H	0.36
637	West syndrome	Enrichment	TSC2	0.36
638	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	TGFBR2	0.36
639	Sensorineural hearing loss	Enrichment	HARS2	0.34
640	Familial isolated dilated cardiomyopathy	Enrichment	LMNA	0.31
641	Schizophrenia	Enrichment	COMT	0.27
642	Leigh syndrome, nuclear	Enrichment	POLG	0.23
643	Dilated cardiomyopathy	Enrichment	LMNA	0.19
644	Microcephaly	Enrichment	NBN	0.10
645	Hereditary retinal dystrophy	Enrichment	RCBTB1, UBR2	0.05
646	Fundus dystrophy	Enrichment	RCBTB1, UBR2	0.05
647	Retinitis pigmentosa	Enrichment	RCBTB1	0.03

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

Primary ovarian insufficiency

Pathway Network for Primary ovarian insufficiency

Member Pathways for Primary ovarian insufficiency

Pathways in the Primary ovarian insufficiency SuperPath

Associated Genes for Primary ovarian insufficiency

Associated Disorders for Primary ovarian insufficiency

Disorders associated with Primary ovarian insufficiency SuperPath

STRING Interaction Network for Primary ovarian insufficiency

Sources for Primary ovarian insufficiency