Prader-Willi and Angelman syndrome

No Pathway Network information available for Prader-Willi and Angelman syndrome

Pathways in the Prader-Willi and Angelman syndrome SuperPath

#	Name	Source	Genes
1	Prader-Willi and Angelman syndrome	WikiPathways	ATP10A BBS4 BDNF CCND1 CCND2 CDK4 CDK6 CDKN2A CDKN2B CDKN2C CYFIP1 DLX5 E2F1 EIF4E FMR1 GABRA5 GABRB3 GABRD GABRG3 GABRR1 GABRR2 GABRR3 GHRH GHRL GNRH1 GOLGA6L2 GOLGA8S HERC2 HTR2C INS IPW KISS1 MAGEL2 MKRN3 MSX1 NDN NGF NHLH2 NIPA1 NIPA2 NPAP1 OCA2 OXT PCM1 PCSK1 POMC PRKCZ RB1 RNF8 SLC45A2 SNORD108 SNORD109A SNORD109B SNORD64 SNRPN SNURF STT3A-AS1 TACR3 TP53 TUBGCP5 TYR UBE2N UBE3A (see all 63) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CDKN2C	Cyclin Dependent Kinase Inhibitor 2C	Protein Coding	1
2	GHRL	Ghrelin And Obestatin Prepropeptide	Protein Coding	1
3	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	1
4	CCND2	Cyclin D2	Protein Coding	1
5	CDK6	Cyclin Dependent Kinase 6	Protein Coding	1
6	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	1
7	CCND1	Cyclin D1	Protein Coding	1
8	GHRH	Growth Hormone Releasing Hormone	Protein Coding	1
9	KISS1	KiSS-1 Metastasis Suppressor	Protein Coding	1
10	TACR3	Tachykinin Receptor 3	Protein Coding	1
11	OXT	Oxytocin/Neurophysin I Prepropeptide	Protein Coding	1
12	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	1
13	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
14	TYR	Tyrosinase	Protein Coding	1
15	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
16	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
17	POMC	Proopiomelanocortin	Protein Coding	1
18	TP53	Tumor Protein P53	Protein Coding	1
19	INS	Insulin	Protein Coding	1
20	GOLGA8S	Golgin A8 Family Member S	Protein Coding	1
21	RNF8	Ring Finger Protein 8	Protein Coding	1
22	HERC2	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	1
23	MKRN3	Makorin Ring Finger Protein 3	Protein Coding	1
24	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	1
25	UBE2N	Ubiquitin Conjugating Enzyme E2 N	Protein Coding	1
26	SNRPN	Small Nuclear Ribonucleoprotein Polypeptide N	Protein Coding	1
27	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1
28	ATP10A	ATPase Phospholipid Transporting 10A (Putative)	Protein Coding	1
29	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
30	MAGEL2	MAGE Family Member L2	Protein Coding	1
31	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	1
32	SLC45A2	Solute Carrier Family 45 Member 2	Protein Coding	1
33	PCM1	Pericentriolar Material 1	Protein Coding	1
34	OCA2	OCA2 Melanosomal Transmembrane Protein	Protein Coding	1
35	NHLH2	Nescient Helix-Loop-Helix 2	Protein Coding	1
36	NGF	Nerve Growth Factor	Protein Coding	1
37	NDN	Necdin, MAGE Family Member	Protein Coding	1
38	MSX1	Msh Homeobox 1	Protein Coding	1
39	IPW	Imprinted In Prader-Willi Syndrome	RNA Gene	1
40	HTR2C	5-Hydroxytryptamine Receptor 2C	Protein Coding	1
41	GABRR2	Gamma-Aminobutyric Acid Type A Receptor Subunit Rho2	Protein Coding	1
42	GABRG3	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma3	Protein Coding	1
43	GABRD	Gamma-Aminobutyric Acid Type A Receptor Subunit Delta	Protein Coding	1
44	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	1
45	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5	Protein Coding	1
46	NPAP1	Nuclear Pore Associated Protein 1	Protein Coding	1
47	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	1
48	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	1
49	E2F1	E2F Transcription Factor 1	Protein Coding	1
50	DLX5	Distal-Less Homeobox 5	Protein Coding	1
51	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	1
52	SNURF	SNRPN Upstream Open Reading Frame	Protein Coding	1
53	TUBGCP5	Tubulin Gamma Complex Component 5	Protein Coding	1
54	STT3A-AS1	STT3A Antisense RNA 1	RNA Gene	1
55	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	1
56	SNORD64	Small Nucleolar RNA, C/D Box 64	RNA Gene	1
57	SNORD109B	Small Nucleolar RNA, C/D Box 109B	RNA Gene	1
58	SNORD109A	Small Nucleolar RNA, C/D Box 109A	RNA Gene	1
59	SNORD108	Small Nucleolar RNA, C/D Box 108	RNA Gene	1
60	GOLGA6L2	Golgin A6 Family Like 2	Protein Coding	1
61	GABRR1	Gamma-Aminobutyric Acid Type A Receptor Subunit Rho1	Protein Coding	1
62	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	1
63	GABRR3	Gamma-Aminobutyric Acid Type A Receptor Subunit Rho3	Protein Coding	1

Disorders associated with Prader-Willi and Angelman syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Prader-willi syndrome	Enrichment	HERC2, MAGEL2, MKRN3, NDN, OCA2, SNRPN	10.49
2	Schaaf-yang syndrome	Enrichment	MAGEL2, NDN, OCA2, SNRPN	9.35
3	Angelman syndrome due to imprinting defect in 15q11-q13	Enrichment	ATP10A, SNRPN, UBE3A	7.02
4	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	GNRH1, KISS1, NHLH2, TACR3	5.91
5	Oculocutaneous albinism	Enrichment	OCA2, SLC45A2, TYR	5.48
6	Lip and oral cavity carcinoma	Enrichment	CDKN2A, RB1, TP53	4.69
7	Skin/hair/eye pigmentation, variation in, 1	Enrichment	HERC2, OCA2	4.67
8	Angelman syndrome due to maternal 15q11q13 deletion	Enrichment	OCA2, UBE3A	4.67
9	Melanoma, cutaneous malignant 1	Enrichment	CDK4, CDKN2A, CDKN2B	4.21
10	Osteogenic sarcoma	Enrichment	RB1, TP53	4.20
11	Squamous cell carcinoma	Enrichment	RB1, TP53	4.20
12	Bone osteosarcoma	Enrichment	RB1, TP53	4.20
13	Body mass index quantitative trait locus 11	Enrichment	BDNF, GHRL, PCSK1, POMC	4.08
14	Small cell cancer of the lung	Enrichment	RB1, TP53	3.90
15	Genetic central precocious puberty in male	Enrichment	KISS1, MKRN3	3.90
16	Chromosome 15q11.2 deletion syndrome	Enrichment	NIPA1, NIPA2	3.68
17	Angelman syndrome	Enrichment	GABRG3, UBE3A	3.50
18	Li-fraumeni syndrome	Enrichment	CDKN2A, TP53	3.50
19	Adrenocortical carcinoma	Enrichment	CDKN2A, TP53	3.50
20	Albinism	Enrichment	OCA2, TYR	3.50
21	Bladder cancer	Enrichment	CDKN2A, RB1, TP53	3.49
22	Multiple endocrine neoplasia, type i	Enrichment	CDKN2B, CDKN2C	3.36
23	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A, TP53	3.36
24	Leukemia, chronic lymphocytic	Enrichment	CCND1, TP53	3.03
25	Gastric cancer	Enrichment	CDK4, CDKN2A, TP53	2.99
26	Chromosome 1p36 deletion syndrome	Enrichment	GABRD, PRKCZ	2.80
27	Lung cancer susceptibility 3	Enrichment	RB1, TP53	2.73
28	Myeloma, multiple	Enrichment	CCND1, CDKN2C, TP53	2.65
29	Inherited cancer-predisposing syndrome	Enrichment	CDK4, CDKN2A, RB1, TP53	2.48
30	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	Enrichment	DLX5	2.33
31	Albinism, oculocutaneous, type iv	Enrichment	SLC45A2	2.33
32	Albinism, oculocutaneous, type ib	Enrichment	TYR	2.33
33	Melanoma, cutaneous malignant 3	Enrichment	CDK4	2.33
34	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Enrichment	CCND2	2.33
35	Microcephaly 12, primary, autosomal recessive	Enrichment	CDK6	2.33
36	Bardet-biedl syndrome 4	Enrichment	BBS4	2.33
37	Skin/hair/eye pigmentation, variation in, 5	Enrichment	SLC45A2	2.33
38	Skin/hair/eye pigmentation, variation in, 3	Enrichment	TYR	2.33
39	Hypogonadotropic hypogonadism 27 without anosmia	Enrichment	NHLH2	2.33
40	Developmental and epileptic encephalopathy 79	Enrichment	GABRA5	2.33
41	Bone marrow failure syndrome 5	Enrichment	TP53	2.33
42	Papilloma of choroid plexus	Enrichment	TP53	2.33
43	Basal cell carcinoma 7	Enrichment	TP53	2.33
44	Autism 19	Enrichment	EIF4E	2.33
45	Anaplastic thyroid carcinoma	Enrichment	TP53	2.33
46	Epilepsy, idiopathic generalized 10	Enrichment	GABRD	2.33
47	Hypogonadotropic hypogonadism 13 with or without anosmia	Enrichment	KISS1	2.33
48	Intellectual developmental disorder, autosomal recessive 38	Enrichment	HERC2	2.33
49	Hypogonadotropic hypogonadism 12 with or without anosmia	Enrichment	GNRH1	2.33
50	Epilepsy, childhood absence 5	Enrichment	GABRB3	2.33
51	Ductal carcinoma in situ	Enrichment	TP53	2.33
52	Developmental and epileptic encephalopathy 43	Enrichment	GABRB3	2.33
53	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.33
54	Skin melanoma	Enrichment	SLC45A2	2.33
55	Trilateral retinoblastoma	Enrichment	RB1	2.33
56	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.33
57	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.33
58	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.33
59	Choroid plexus cancer	Enrichment	TP53	2.33
60	Minimal pigment oculocutaneous albinism type 1	Enrichment	TYR	2.33
61	Xq27.3q28 duplication syndrome	Enrichment	FMR1	2.33
62	Split hand-foot malformation 1 with sensorineural hearing loss	Enrichment	DLX5	2.33
63	15q11q13 microduplication syndrome	Enrichment	UBE3A	2.33
64	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.33
65	Hypopigmentation of the skin	Enrichment	TYR	2.33
66	Lung oat cell carcinoma	Enrichment	RB1	2.33
67	Pancreatic cancer	Enrichment	CDKN2A, TP53	2.23
68	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	2.03
69	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.03
70	Spastic paraplegia 6, autosomal dominant	Enrichment	NIPA1	2.03
71	Cervical cancer	Enrichment	TP53	2.03
72	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	2.03
73	Orofacial cleft 5	Enrichment	MSX1	2.03
74	Hypogonadotropic hypogonadism 11 with or without anosmia	Enrichment	TACR3	2.03
75	Chromosome 13q14 deletion syndrome	Enrichment	RB1	2.03
76	Maturity-onset diabetes of the young, type 10	Enrichment	INS	2.03
77	Witkop syndrome	Enrichment	MSX1	2.03
78	Lymphoma, hodgkin, classic	Enrichment	TP53	2.03
79	Albinism, oculocutaneous, type ia	Enrichment	TYR	2.03
80	Hyperproinsulinemia	Enrichment	INS	2.03
81	Melanoma, cutaneous malignant 8	Enrichment	TYR	2.03
82	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	2.03
83	Congenital fibrosarcoma	Enrichment	TP53	2.03
84	Li-fraumeni syndrome 1	Enrichment	TP53	2.03
85	Sarcoma	Enrichment	TP53	2.03
86	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	2.03
87	Hypophosphatasia	Enrichment	OCA2	2.03
88	Cervix carcinoma	Enrichment	TP53	2.03
89	Hodgkin's lymphoma	Enrichment	TP53	2.03
90	Familial retinoblastoma	Enrichment	RB1	2.03
91	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.03
92	Ovarian cancer	Enrichment	CDKN2A, RB1, TP53	1.94
93	Type 1 diabetes mellitus 2	Enrichment	INS	1.86
94	Retinoblastoma	Enrichment	RB1	1.86
95	Hypophosphatasia, infantile	Enrichment	OCA2	1.86
96	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	1.86
97	Body mass index quantitative trait locus 12	Enrichment	PCSK1	1.86
98	Nasopharyngeal carcinoma	Enrichment	TP53	1.86
99	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.86
100	Proprotein convertase 1/3 deficiency	Enrichment	PCSK1	1.86
101	Hypotrichosis 8	Enrichment	RB1	1.86
102	Dedifferentiated liposarcoma	Enrichment	CDK4	1.86
103	Precocious puberty, central, 2	Enrichment	MKRN3	1.86
104	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.86
105	Anaplastic astrocytoma	Enrichment	TP53	1.86
106	Adenocarcinoma	Enrichment	TP53	1.86
107	Well-differentiated liposarcoma	Enrichment	CDK4	1.86
108	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	1.86
109	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.73
110	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	CCND2	1.73
111	Fragile x tremor/ataxia syndrome	Enrichment	FMR1	1.73
112	Lynch syndrome 4	Enrichment	RB1	1.73
113	Mantle cell lymphoma	Enrichment	CCND1	1.73
114	Fragile x-associated tremor/ataxia syndrome	Enrichment	FMR1	1.73
115	Neonatal diabetes mellitus	Enrichment	INS	1.73
116	Lung sarcomatoid carcinoma	Enrichment	TP53	1.73
117	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.73
118	Cleft lip and alveolus	Enrichment	MSX1	1.73
119	Von hippel-lindau syndrome	Enrichment	CCND1	1.64
120	Albinism, oculocutaneous, type ii	Enrichment	OCA2	1.64
121	Premature ovarian failure 1	Enrichment	FMR1	1.64
122	Fragile x syndrome	Enrichment	FMR1	1.64
123	Rhabdomyosarcoma 2	Enrichment	TP53	1.64
124	Lymphoma	Enrichment	TP53	1.64
125	Acute megakaryocytic leukemia	Enrichment	TP53	1.64
126	Cleft upper lip	Enrichment	MSX1	1.64
127	Split-hand/foot malformation 1	Enrichment	DLX5	1.56
128	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	1.56
129	Type 1 diabetes mellitus	Enrichment	INS	1.56
130	Epilepsy, childhood absence 1	Enrichment	GABRB3	1.56
131	Albinism, ocular, type i	Enrichment	TYR	1.56
132	Breast adenocarcinoma	Enrichment	TP53	1.56
133	Lung squamous cell carcinoma	Enrichment	CDKN2A	1.56
134	Childhood absence epilepsy	Enrichment	GABRB3	1.56
135	Esophageal cancer	Enrichment	TP53	1.49
136	Squamous cell carcinoma, head and neck	Enrichment	TP53	1.49
137	Waardenburg syndrome, type 2e	Enrichment	TYR	1.49
138	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF	1.49
139	Essential thrombocythemia	Enrichment	TP53	1.49
140	Gallbladder cancer	Enrichment	TP53	1.49
141	Glioma susceptibility 1	Enrichment	TP53	1.44
142	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.44
143	Lennox-gastaut syndrome	Enrichment	GABRB3	1.44
144	Permanent neonatal diabetes mellitus	Enrichment	INS	1.44
145	Isolated split hand-split foot malformation	Enrichment	DLX5	1.44
146	Tooth agenesis, selective, 1	Enrichment	MSX1	1.39
147	Adult hepatocellular carcinoma	Enrichment	TP53	1.39
148	Hypogonadotropic hypogonadism	Enrichment	TACR3	1.39
149	Congenital central hypoventilation syndrome	Enrichment	BDNF	1.39
150	Primary hyperaldosteronism	Enrichment	TP53	1.39
151	Optic nerve disease	Enrichment	TYR	1.34
152	Melanoma	Enrichment	CDKN2A	1.34
153	Familial colorectal cancer	Enrichment	TP53	1.34
154	Breast cancer	Enrichment	CDKN2B, TP53	1.32
155	Epilepsy, myoclonic juvenile	Enrichment	GABRD	1.30
156	Epilepsy, idiopathic generalized	Enrichment	GABRD	1.30
157	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.30
158	Myelodysplastic syndrome	Enrichment	TP53	1.30
159	Diabetes mellitus	Enrichment	INS	1.30
160	Bardet-biedl syndrome 1	Enrichment	BBS4	1.23
161	Colorectal cancer	Enrichment	CCND1, TP53	1.21
162	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	TACR3	1.20
163	Generalized epilepsy with febrile seizures plus	Enrichment	GABRD	1.20
164	Cleft lip/palate	Enrichment	MSX1	1.20
165	Myopia	Enrichment	TYR	1.17
166	Hydrocephalus, congenital, 1	Enrichment	MAGEL2	1.14
167	Rhabdomyosarcoma	Enrichment	TP53	1.14
168	Gliosarcoma	Enrichment	TP53	1.14
169	Giant cell glioblastoma	Enrichment	TP53	1.12
170	Diffuse large b-cell lymphoma	Enrichment	TP53	1.07
171	Maturity-onset diabetes of the young	Enrichment	INS	1.05
172	Hepatoblastoma	Enrichment	TP53	1.03
173	Hepatocellular carcinoma	Enrichment	TP53	1.01
174	Tooth agenesis	Enrichment	MSX1	1.01
175	Skin disease	Enrichment	TYR	1.01
176	Diamond-blackfan anemia 1	Enrichment	TP53	0.99
177	Kallmann syndrome	Enrichment	TACR3	0.99
178	Precursor t-cell acute lymphoblastic leukemia	Enrichment	CDKN2A	0.99
179	Strabismus	Enrichment	TYR	0.93
180	Prostate cancer	Enrichment	TP53	0.90
181	Differentiated thyroid carcinoma	Enrichment	PCM1	0.90
182	Primary autosomal recessive microcephaly	Enrichment	CDK6	0.86
183	Peripheral nervous system disease	Enrichment	NGF	0.86
184	Neuropathy	Enrichment	NGF	0.86
185	Eye disease	Enrichment	TYR	0.82
186	Diamond-blackfan anemia	Enrichment	TP53	0.81
187	Fetal akinesia deformation sequence 1	Enrichment	MAGEL2	0.80
188	Leukemia, acute myeloid	Enrichment	TP53	0.77
189	Epilepsy	Enrichment	GABRB3	0.77
190	Bardet-biedl syndrome	Enrichment	BBS4	0.75
191	Hereditary spastic paraplegia	Enrichment	NIPA1	0.75
192	Hereditary breast carcinoma	Enrichment	TP53	0.73
193	Hereditary breast ovarian cancer syndrome	Enrichment	TP53	0.65
194	Undetermined early-onset epileptic encephalopathy	Enrichment	GABRA5	0.64
195	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	NIPA1	0.63
196	Autism spectrum disorder	Enrichment	TACR3	0.40
197	Retinitis pigmentosa	Enrichment	BBS4	0.20
198	Hereditary retinal dystrophy	Enrichment	BBS4	0.13
199	Fundus dystrophy	Enrichment	BBS4	0.13

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

Prader-Willi and Angelman syndrome

Pathway Network for Prader-Willi and Angelman syndrome

Member Pathways for Prader-Willi and Angelman syndrome

Pathways in the Prader-Willi and Angelman syndrome SuperPath

Associated Genes for Prader-Willi and Angelman syndrome

Associated Disorders for Prader-Willi and Angelman syndrome

Disorders associated with Prader-Willi and Angelman syndrome SuperPath

STRING Interaction Network for Prader-Willi and Angelman syndrome

Sources for Prader-Willi and Angelman syndrome