Presenilin-Mediated Signaling

No Pathway Network information available for Presenilin-Mediated Signaling

Pathways in the Presenilin-Mediated Signaling SuperPath

#	Name	Source	Genes
1	Presenilin-Mediated Signaling	QIAGEN	ADAM17 APC APH1A APH1B APP AXIN1 BACE1 BCL2 BCL2L1 BTRC CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CACNA2D3 CACNA2D4 CACNB1 CACNB2 CACNB3 CACNB4 CACNG1 CACNG2 CACNG3 CACNG4 CACNG5 CACNG6 CACNG7 CACNG8 CALR CASP1 CASP10 CASP2 CASP3 CASP4 CASP5 CASP6 CASP7 CASP8 CASP9 CDH1 CDH10 CDH11 CDH12 CDH13 CDH15 CDH16 CDH17 CDH18 CDH19 CDH2 CDH3 CDH4 CDH5 CDH6 CDH7 CDH8 CDH9 CTNNA1 CTNNB1 DOCK3 DVL1 FZD1 FZD10 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 FZD9 GSK3B NCSTN NOTCH1 NOTCH2 NOTCH3 NOTCH4 PSEN1 PSEN2 PSENEN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 RBPJ RYR1 RYR2 RYR3 SRI UBB UBC UBD WNT1 WNT10A WNT10B WNT2 WNT2B WNT3 WNT3A WNT4 WNT5A WNT5B WNT6 WNT7A WNT7B WNT8A WNT8B WNT9A WNT9B (see all 142) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
2	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
3	APH1A	Aph-1A Gamma-Secretase Subunit	Protein Coding	1
4	APP	Amyloid Beta Precursor Protein	Protein Coding	1
5	AXIN1	Axin 1	Protein Coding	1
6	BACE1	Beta-Secretase 1	Protein Coding	1
7	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
8	BCL2L1	BCL2 Like 1	Protein Coding	1
9	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	1
10	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	1
11	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	1
12	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1
13	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	1
14	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	1
15	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	1
16	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	1
17	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	1
18	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	1
19	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	1
20	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	1
21	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	1
22	CACNA2D3	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3	Protein Coding	1
23	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	1
24	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	1
25	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	1
26	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	1
27	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	1
28	CACNG1	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1	Protein Coding	1
29	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	1
30	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	1
31	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	1
32	CACNG5	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5	Protein Coding	1
33	CACNG6	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6	Protein Coding	1
34	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	1
35	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	1
36	CALR	Calreticulin	Protein Coding	1
37	CASP1	Caspase 1	Protein Coding	1
38	CASP10	Caspase 10	Protein Coding	1
39	CASP2	Caspase 2	Protein Coding	1
40	CASP3	Caspase 3	Protein Coding	1
41	CASP4	Caspase 4	Protein Coding	1
42	CASP5	Caspase 5	Protein Coding	1
43	CASP6	Caspase 6	Protein Coding	1
44	CASP7	Caspase 7	Protein Coding	1
45	CASP8	Caspase 8	Protein Coding	1
46	CASP9	Caspase 9	Protein Coding	1
47	CDH1	Cadherin 1	Protein Coding	1
48	CDH10	Cadherin 10	Protein Coding	1
49	CDH11	Cadherin 11	Protein Coding	1
50	CDH12	Cadherin 12	Protein Coding	1
51	CDH13	Cadherin 13	Protein Coding	1
52	CDH15	Cadherin 15	Protein Coding	1
53	CDH16	Cadherin 16	Protein Coding	1
54	CDH17	Cadherin 17	Protein Coding	1
55	CDH18	Cadherin 18	Protein Coding	1
56	CDH19	Cadherin 19	Protein Coding	1
57	CDH2	Cadherin 2	Protein Coding	1
58	CDH3	Cadherin 3	Protein Coding	1
59	CDH4	Cadherin 4	Protein Coding	1
60	CDH5	Cadherin 5	Protein Coding	1
61	CDH6	Cadherin 6	Protein Coding	1
62	CDH7	Cadherin 7	Protein Coding	1
63	CDH8	Cadherin 8	Protein Coding	1
64	CDH9	Cadherin 9	Protein Coding	1
65	CTNNA1	Catenin Alpha 1	Protein Coding	1
66	CTNNB1	Catenin Beta 1	Protein Coding	1
67	DOCK3	Dedicator Of Cytokinesis 3	Protein Coding	1
68	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	1
69	FZD1	Frizzled Class Receptor 1	Protein Coding	1
70	FZD10	Frizzled Class Receptor 10	Protein Coding	1
71	FZD2	Frizzled Class Receptor 2	Protein Coding	1
72	FZD3	Frizzled Class Receptor 3	Protein Coding	1
73	FZD4	Frizzled Class Receptor 4	Protein Coding	1
74	FZD5	Frizzled Class Receptor 5	Protein Coding	1
75	FZD6	Frizzled Class Receptor 6	Protein Coding	1
76	FZD7	Frizzled Class Receptor 7	Protein Coding	1
77	FZD8	Frizzled Class Receptor 8	Protein Coding	1
78	FZD9	Frizzled Class Receptor 9	Protein Coding	1
79	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
80	NCSTN	Nicastrin	Protein Coding	1
81	NOTCH1	Notch Receptor 1	Protein Coding	1
82	NOTCH2	Notch Receptor 2	Protein Coding	1
83	NOTCH3	Notch Receptor 3	Protein Coding	1
84	NOTCH4	Notch Receptor 4	Protein Coding	1
85	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	1
86	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	1
87	PSEN1	Presenilin 1	Protein Coding	1
88	PSEN2	Presenilin 2	Protein Coding	1
89	APH1B	Aph-1B Gamma-Secretase Subunit	Protein Coding	1
90	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	1
91	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	1
92	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	1
93	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	1
94	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	1
95	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	1
96	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	1
97	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	1
98	PSMB10	Proteasome 20S Subunit Beta 10	Protein Coding	1
99	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	1
100	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	1
101	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	1
102	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	1
103	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	1
104	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	1
105	PSMB8	Proteasome 20S Subunit Beta 8	Protein Coding	1
106	PSMB9	Proteasome 20S Subunit Beta 9	Protein Coding	1
107	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	1
108	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	1
109	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	1
110	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	1
111	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	1
112	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	1
113	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	1
114	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	1
115	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	1
116	PSMD4	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 4	Protein Coding	1
117	PSMD5	Proteasome 26S Subunit, Non-ATPase 5	Protein Coding	1
118	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	1
119	RYR1	Ryanodine Receptor 1	Protein Coding	1
120	RYR2	Ryanodine Receptor 2	Protein Coding	1
121	RYR3	Ryanodine Receptor 3	Protein Coding	1
122	SRI	Sorcin	Protein Coding	1
123	UBB	Ubiquitin B	Protein Coding	1
124	UBC	Ubiquitin C	Protein Coding	1
125	UBD	Ubiquitin Like Modifier D	Protein Coding	1
126	WNT1	Wnt Family Member 1	Protein Coding	1
127	WNT10A	Wnt Family Member 10A	Protein Coding	1
128	WNT10B	Wnt Family Member 10B	Protein Coding	1
129	WNT9A	Wnt Family Member 9A	Protein Coding	1
130	WNT9B	Wnt Family Member 9B	Protein Coding	1
131	WNT2	Wnt Family Member 2	Protein Coding	1
132	WNT2B	Wnt Family Member 2B	Protein Coding	1
133	WNT3	Wnt Family Member 3	Protein Coding	1
134	WNT3A	Wnt Family Member 3A	Protein Coding	1
135	WNT4	Wnt Family Member 4	Protein Coding	1
136	WNT5A	Wnt Family Member 5A	Protein Coding	1
137	WNT5B	Wnt Family Member 5B	Protein Coding	1
138	WNT6	Wnt Family Member 6	Protein Coding	1
139	WNT7A	Wnt Family Member 7A	Protein Coding	1
140	WNT7B	Wnt Family Member 7B	Protein Coding	1
141	WNT8A	Wnt Family Member 8A	Protein Coding	1
142	WNT8B	Wnt Family Member 8B	Protein Coding	1

Disorders associated with Presenilin-Mediated Signaling SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1, FZD2, WNT5A	5.35
2	Autosomal dominant robinow syndrome	Enrichment	DVL1, FZD2, WNT5A	5.35
3	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1, FZD2, WNT5A	4.96
4	Autosomal recessive robinow syndrome	Enrichment	DVL1, FZD2, WNT5A	4.66
5	Early-onset autosomal dominant alzheimer disease	Enrichment	APP, PSEN1, PSEN2	4.42
6	Hepatocellular carcinoma	Enrichment	APC, AXIN1, CASP8, CTNNB1	4.14
7	Adult hepatocellular carcinoma	Enrichment	AXIN1, CASP8, CTNNB1	4.05
8	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4, PSMB9	3.96
9	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	3.49
10	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4, PSMB8	3.49
11	Osteoporosis, juvenile	Enrichment	WNT1, WNT3A	3.49
12	Alzheimer disease 4	Enrichment	PSEN1, PSEN2	3.49
13	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1A, CACNA1C	3.49
14	Desmoid tumor	Enrichment	APC, CTNNB1	3.49
15	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4, PSMB8	3.49
16	Keratoacanthoma	Enrichment	NOTCH1, NOTCH2	3.49
17	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CDH1, CTNNA1	3.19
18	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C, RYR2	3.19
19	Craniopharyngioma	Enrichment	APC, CTNNB1	3.19
20	Malignant hyperthermia	Enrichment	CACNA1S, RYR1	3.19
21	Exudative vitreoretinopathy 1	Enrichment	CTNNB1, FZD4	2.97
22	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1, FZD2	2.97
23	Heart conduction disease	Enrichment	CACNA1C, RYR2	2.97
24	Colorectal cancer	Enrichment	APC, CDH1, CTNNA1, CTNNB1, FZD3	2.66
25	Adams-oliver syndrome	Enrichment	NOTCH1, RBPJ	2.66
26	Brugada syndrome	Enrichment	CACNA1C, CACNA2D1, CACNB2	2.61
27	Auditory neuropathy	Enrichment	CACNA1A, CDH2, NOTCH3	2.61
28	Exudative vitreoretinopathy	Enrichment	CTNNB1, FZD4	2.53
29	Isolated split hand-split foot malformation	Enrichment	BTRC, WNT10B	2.53
30	Hydrops fetalis	Enrichment	RYR1, RYR3	2.43
31	Long qt syndrome	Enrichment	CACNA1C, CACNA1S, RYR2	2.39
32	Migraine with or without aura 1	Enrichment	CACNA1A, NOTCH3	2.25
33	Cardiac conduction defect	Enrichment	CACNA1C, RYR2	2.17
34	Alzheimer's disease	Enrichment	APP, PSEN1	2.10
35	Breast cancer	Enrichment	APC, CACNA2D1, CASP8, CDH1	2.10
36	Medulloblastoma	Enrichment	APC, CTNNB1	2.04
37	Cone-rod dystrophy 6	Enrichment	CACNA1F, CACNA2D4	2.04
38	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	CDH2, RYR2	2.04
39	Gastric cancer	Enrichment	APC, CASP10, CDH1	1.99
40	Nail disorder, nonsyndromic congenital, 1	Enrichment	FZD6	1.98
41	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	1.98
42	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	Enrichment	CDH3	1.98
43	Elsahy-waters syndrome	Enrichment	CDH11	1.98
44	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	1.98
45	Caspase 8 deficiency	Enrichment	CASP8	1.98
46	Epilepsy, idiopathic generalized 9	Enrichment	CACNB4	1.98
47	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	1.98
48	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	1.98
49	Brugada syndrome 4	Enrichment	CACNB2	1.98
50	Intellectual developmental disorder, autosomal dominant 3	Enrichment	CDH15	1.98
51	Omodysplasia 2	Enrichment	FZD2	1.98
52	Hajdu-cheney syndrome	Enrichment	NOTCH2	1.98
53	Alagille syndrome 2	Enrichment	NOTCH2	1.98
54	Acne inversa, familial, 1	Enrichment	NCSTN	1.98
55	Lateral meningocele syndrome	Enrichment	NOTCH3	1.98
56	Split-hand/foot malformation 6	Enrichment	WNT10B	1.98
57	Caudal duplication anomaly	Enrichment	AXIN1	1.98
58	Tooth agenesis, selective, 8	Enrichment	WNT10B	1.98
59	Episodic ataxia, type 5	Enrichment	CACNB4	1.98
60	Teebi hypertelorism syndrome 2	Enrichment	CDH11	1.98
61	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	1.98
62	Congenital myopathy 20	Enrichment	RYR3	1.98
63	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	1.98
64	Congenital myopathy 18	Enrichment	CACNA1S	1.98
65	Diarrhea 9	Enrichment	WNT2B	1.98
66	Cone-rod dystrophy, x-linked, 3	Enrichment	CACNA1F	1.98
67	Retinal cone dystrophy 4	Enrichment	CACNA2D4	1.98
68	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Enrichment	CDH2	1.98
69	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	1.98
70	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	1.98
71	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	1.98
72	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	1.98
73	Hypotrichosis	Enrichment	CDH3	1.98
74	Brugada syndrome 3	Enrichment	CACNA1C	1.98
75	Epilepsy, childhood absence 6	Enrichment	CACNA1H	1.98
76	Malignant hyperthermia 5	Enrichment	CACNA1S	1.98
77	Autoimmune lymphoproliferative syndrome, type iia	Enrichment	CASP10	1.98
78	Cerebral amyloid angiopathy, app-related	Enrichment	APP	1.98
79	Santos syndrome	Enrichment	WNT7A	1.98
80	Arrhythmogenic right ventricular dysplasia, familial, 14	Enrichment	CDH2	1.98
81	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	1.98
82	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	1.98
83	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	1.98
84	Proteasome-associated autoinflammatory syndrome 6	Enrichment	PSMB9	1.98
85	Myofibromatosis, infantile, 2	Enrichment	NOTCH3	1.98
86	Microphthalmia/coloboma 11	Enrichment	FZD5	1.98
87	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	1.98
88	Spinocerebellar ataxia 42	Enrichment	CACNA1G	1.98
89	Developmental and epileptic encephalopathy 110	Enrichment	CACNA2D1	1.98
90	Acne inversa, familial, 3	Enrichment	PSEN1	1.98
91	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	1.98
92	Developmental and epileptic encephalopathy 69	Enrichment	CACNA1E	1.98
93	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	1.98
94	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	Enrichment	DOCK3	1.98
95	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	1.98
96	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	1.98
97	Attention deficit-hyperactivity disorder 8	Enrichment	CDH2	1.98
98	Adenoid ameloblastoma	Enrichment	CTNNB1	1.98
99	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	Enrichment	CASP2	1.98
100	Transient cerebral ischemia	Enrichment	NOTCH3	1.98
101	Breast lobular carcinoma	Enrichment	CDH1	1.98
102	Conn's syndrome	Enrichment	CACNA1H	1.98
103	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Enrichment	NOTCH3	1.98
104	Familial adenomatous polyposis	Enrichment	APC	1.98
105	Sporadic hemiplegic migraine	Enrichment	CACNA1A	1.98
106	Atypical timothy syndrome	Enrichment	CACNA1C	1.98
107	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	1.98
108	Timothy syndrome type 2	Enrichment	CACNA1C	1.98
109	Gardner syndrome	Enrichment	APC	1.98
110	5q22 microdeletion syndrome	Enrichment	APC	1.98
111	Pash syndrome	Enrichment	NCSTN	1.98
112	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	1.98
113	Attenuated familial adenomatous polyposis	Enrichment	APC	1.98
114	Huntington's disease-like	Enrichment	PSEN2	1.98
115	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	1.98
116	Timothy syndrome type 1	Enrichment	CACNA1C	1.98
117	Microcystic stromal tumor	Enrichment	CTNNB1	1.98
118	Cacna1c-related disorders	Enrichment	CACNA1C	1.98
119	Benign paroxysmal torticollis of infancy	Enrichment	CACNA1A	1.98
120	Benign samaritan congenital myopathy	Enrichment	RYR1	1.98
121	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR1, RYR2	1.93
122	Alzheimer disease, familial, 1	Enrichment	APP, PSEN1	1.87
123	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNA1I, CACNG2, CDH15	1.81
124	Congenital myopathy	Enrichment	CACNA1S, RYR1	1.78
125	Centronuclear myopathy	Enrichment	CACNA1S, RYR1	1.70
126	Hepatoblastoma	Enrichment	APC, CTNNB1	1.70
127	Undetermined early-onset epileptic encephalopathy	Enrichment	CACNA1A, CACNA1B, CACNA2D1	1.68
128	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	1.68
129	Blepharocheilodontic syndrome 1	Enrichment	CDH1	1.68
130	Malignant hyperthermia 1	Enrichment	RYR1	1.68
131	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	1.68
132	Tooth agenesis, selective, 4	Enrichment	WNT10A	1.68
133	Schopf-schulz-passarge syndrome	Enrichment	WNT10A	1.68
134	Ulna and fibula, absence of, with severe limb deficiency	Enrichment	WNT7A	1.68
135	Bladder exstrophy and epispadias complex	Enrichment	WNT3	1.68
136	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.68
137	Timothy syndrome	Enrichment	CACNA1C	1.68
138	Hypotrichosis, congenital, with juvenile macular dystrophy	Enrichment	CDH3	1.68
139	Alzheimer disease 3	Enrichment	PSEN1	1.68
140	Night blindness, congenital stationary, type 2a	Enrichment	CACNA1F	1.68
141	Odontoonychodermal dysplasia	Enrichment	WNT10A	1.68
142	Tetraamelia syndrome 1	Enrichment	WNT3	1.68
143	Alternating hemiplegia of childhood 1	Enrichment	CACNA1A	1.68
144	Pick disease of brain	Enrichment	PSEN1	1.68
145	Osteogenesis imperfecta, type xv	Enrichment	WNT1	1.68
146	Adams-oliver syndrome 5	Enrichment	NOTCH1	1.68
147	Robinow syndrome, autosomal dominant 3	Enrichment	FZD2	1.68
148	Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly	Enrichment	WNT7A	1.68
149	Adams-oliver syndrome 3	Enrichment	RBPJ	1.68
150	Proteasome-associated autoinflammatory syndrome 5	Enrichment	PSMB10	1.68
151	Long qt syndrome 8	Enrichment	CACNA1C	1.68
152	Immunodeficiency 121 with autoinflammation	Enrichment	PSMB10	1.68
153	Birk-aharoni syndrome	Enrichment	PSMC1	1.68
154	Infantile myofibromatosis	Enrichment	NOTCH3	1.68
155	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.68
156	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.68
157	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	RYR2	1.68
158	Lipodystrophy, familial partial, type 1	Enrichment	NOTCH3	1.68
159	King-denborough syndrome	Enrichment	RYR1	1.68
160	Depressive disorder	Enrichment	NOTCH3	1.68
161	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	1.68
162	Periampullary adenoma	Enrichment	APC	1.68
163	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.68
164	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.68
165	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Enrichment	CACNA1B	1.68
166	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.68
167	Exercise-induced malignant hyperthermia	Enrichment	RYR1	1.68
168	Teratoma	Enrichment	CTNNB1	1.68
169	Bladder exstrophy-epispadias-cloacal exstrophy complex	Enrichment	WNT3	1.68
170	Progressive bulbar palsy	Enrichment	CACNA1A	1.68
171	Submucosal cleft palate	Enrichment	UBB	1.68
172	Cleft hard palate	Enrichment	UBB	1.68
173	Tooth agenesis	Enrichment	WNT10A, WNT10B	1.66
174	Congenital stationary night blindness	Enrichment	CACNA1F, CACNA2D4	1.62
175	Van der woude syndrome 1	Enrichment	CACNA1E	1.51
176	Thrombocythemia 1	Enrichment	CALR	1.51
177	Uvula, bifid	Enrichment	UBB	1.51
178	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	WNT4	1.51
179	Microphthalmia, syndromic 9	Enrichment	WNT7B	1.51
180	Tooth agenesis, selective, 2	Enrichment	WNT10A	1.51
181	Cleft soft palate	Enrichment	UBB	1.51
182	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.51
183	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.51
184	Lynch syndrome 5	Enrichment	RYR1	1.51
185	Anus, imperforate	Enrichment	CTNNB1	1.51
186	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.51
187	Bronchopulmonary dysplasia	Enrichment	RYR1	1.51
188	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	1.51
189	Nail disease	Enrichment	FZD6	1.51
190	Migraine without aura	Enrichment	NOTCH3	1.51
191	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1	1.51
192	Tetraamelia syndrome	Enrichment	WNT3	1.51
193	Colon adenocarcinoma	Enrichment	APC	1.51
194	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.51
195	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	1.51
196	Thyroid hemiagenesis	Enrichment	PSMD3	1.51
197	Hereditary episodic ataxia	Enrichment	CACNA1A	1.51
198	Apc-associated polyposis conditions	Enrichment	APC	1.51
199	Migraine, familial hemiplegic, 1	Enrichment	CACNA1A	1.38
200	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	1.38
201	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	WNT10A	1.38
202	Spinocerebellar ataxia 6	Enrichment	CACNA1A	1.38
203	Myopathy, centronuclear, 2	Enrichment	RYR1	1.38
204	Sacral defect with anterior meningocele	Enrichment	RYR1	1.38
205	Polyposis syndrome, hereditary mixed, 1	Enrichment	CTNNA1	1.38
206	Autoimmune lymphoproliferative syndrome	Enrichment	CASP10	1.38
207	Amyotrophy, monomelic	Enrichment	RYR3	1.38
208	Budd-chiari syndrome	Enrichment	CALR	1.38
209	Aland island eye disease	Enrichment	CACNA1F	1.38
210	Developmental and epileptic encephalopathy 2	Enrichment	CACNA1A	1.38
211	Pilomatrixoma	Enrichment	CTNNB1	1.38
212	Developmental and epileptic encephalopathy 42	Enrichment	CACNA1A	1.38
213	Alazami syndrome	Enrichment	CTNNB1	1.38
214	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	1.38
215	Cerebellar atrophy with seizures and variable developmental delay	Enrichment	CACNA2D2	1.38
216	Developmental and epileptic encephalopathy 52	Enrichment	CACNA1A	1.38
217	Dowling-degos disease	Enrichment	PSENEN	1.38
218	Ectodermal dysplasia	Enrichment	WNT10A	1.38
219	Retinopathy of prematurity	Enrichment	FZD4	1.38
220	Cerebrovascular disease	Enrichment	NOTCH3	1.38
221	Congenital myopathy 1a	Enrichment	RYR1	1.38
222	Episodic ataxia	Enrichment	CACNA1A	1.38
223	Eyelid coloboma	Enrichment	FZD5	1.38
224	Familial or sporadic hemiplegic migraine	Enrichment	CACNA1A	1.38
225	Vacterl association	Enrichment	CDH13	1.38
226	Lens coloboma	Enrichment	FZD5	1.38
227	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2	1.38
228	Episodic ataxia, type 2	Enrichment	CACNA1A	1.29
229	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	NOTCH3	1.29
230	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1	1.29
231	Vater/vacterl association	Enrichment	CDH13	1.29
232	Norrie disease	Enrichment	FZD4	1.29
233	Familial adenomatous polyposis 1	Enrichment	APC	1.29
234	Follicular lymphoma	Enrichment	BCL2	1.29
235	Amblyopia	Enrichment	CACNA1F	1.29
236	Cardiac arrest	Enrichment	CACNA2D1	1.29
237	Persistent hyperplastic primary vitreous	Enrichment	FZD4	1.29
238	Vascular dementia	Enrichment	NOTCH3	1.29
239	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	WNT10A	1.29
240	Dementia	Enrichment	PSEN1	1.29
241	Congenital short qt syndrome	Enrichment	CACNA2D1	1.29
242	Coloboma of choroid and retina	Enrichment	FZD5	1.29
243	Eye disease	Enrichment	CACNA1F, CACNA2D4	1.29
244	Developmental and epileptic encephalopathy	Enrichment	CACNA1E, CACNA2D2	1.26
245	Developmental dysplasia of the hip 1	Enrichment	PSMC3	1.21
246	Coloboma of optic nerve	Enrichment	FZD5	1.21
247	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S	1.21
248	Myopathy, centronuclear, 1	Enrichment	RYR1	1.21
249	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.21
250	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1	1.21
251	Renal dysplasia, cystic	Enrichment	WNT9B	1.21
252	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	RYR2	1.21
253	Renal hypoplasia	Enrichment	WNT9B	1.21
254	Diarrhea	Enrichment	WNT2B	1.21
255	Patent ductus arteriosus	Enrichment	PSMC3	1.21
256	Adrenocortical carcinoma	Enrichment	CTNNB1	1.21
257	Multicystic kidney dysplasia	Enrichment	FZD3	1.21
258	Childhood absence epilepsy	Enrichment	CACNA1H	1.21
259	Cleft lip with or without cleft palate	Enrichment	CDH1	1.21
260	Multicystic dysplastic kidney	Enrichment	FZD3	1.21
261	Cerebral palsy	Enrichment	CACNA1A, CACNA1C	1.20
262	Myelofibrosis	Enrichment	CALR	1.15
263	Brugada syndrome 1	Enrichment	CACNA2D1	1.15
264	Coats disease	Enrichment	FZD4	1.15
265	Semantic dementia	Enrichment	PSEN1	1.15
266	Alzheimer's disease 1	Enrichment	APP	1.15
267	Essential thrombocythemia	Enrichment	CALR	1.15
268	Gallbladder cancer	Enrichment	CTNNB1	1.15
269	Distal arthrogryposis	Enrichment	FZD3, RYR1	1.15
270	Hereditary breast carcinoma	Enrichment	APC, CDH1	1.11
271	Multiple pterygium syndrome, lethal type	Enrichment	RYR1	1.09
272	Renal hypodysplasia/aplasia 1	Enrichment	WNT9B	1.09
273	Lymphoma, non-hodgkin, familial	Enrichment	CASP10	1.09
274	Lennox-gastaut syndrome	Enrichment	CACNA1A	1.09
275	Alternating hemiplegia of childhood	Enrichment	CACNA1A	1.09
276	Congenital muscular dystrophy	Enrichment	RYR1	1.09
277	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	RYR2	1.09
278	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	RYR2	1.09
279	Hypoplastic left heart syndrome	Enrichment	NOTCH1	1.09
280	Difference of sex development	Enrichment	CACNA1A	1.09
281	Ovarian cancer	Enrichment	APC, CDH1, CTNNB1	1.05
282	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C	1.04
283	Progressive non-fluent aphasia	Enrichment	PSEN1	1.04
284	Primary hyperaldosteronism	Enrichment	CACNA1H	1.04
285	Colonic benign neoplasm	Enrichment	APC	1.04
286	Hypotrichosis simplex	Enrichment	CDH3	1.04
287	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	1.04
288	Renal agenesis, bilateral	Enrichment	WNT9B	1.04
289	Congenital nervous system abnormality	Enrichment	CACNA1A, CTNNB1, PSEN1	1.00
290	Nervous system disease	Enrichment	CACNA1A, CTNNB1, PSEN1	1.00
291	Cat eye syndrome	Enrichment	FZD5	1.00
292	Omenn syndrome	Enrichment	PSMB10	1.00
293	Stroke, ischemic	Enrichment	NOTCH3	1.00
294	Polymicrogyria	Enrichment	PSMC3	1.00
295	Spastic ataxia	Enrichment	CACNA1G, CACNB4	0.97
296	Familial isolated dilated cardiomyopathy	Enrichment	PSEN1, PSEN2	0.97
297	Epilepsy, myoclonic juvenile	Enrichment	CACNB4	0.96
298	Frontotemporal dementia 1	Enrichment	PSEN1	0.96
299	Epilepsy, idiopathic generalized	Enrichment	CACNA1H	0.96
300	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2	0.93
301	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2	0.93
302	Primary ovarian insufficiency	Enrichment	NOTCH2, RYR3	0.90
303	Aortic valve disease 1	Enrichment	NOTCH1	0.89
304	Microphthalmia/coloboma 12	Enrichment	FZD5	0.89
305	Osteogenesis imperfecta, type iv	Enrichment	WNT1	0.89
306	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	RYR1	0.89
307	Clubfoot	Enrichment	RYR1	0.89
308	Chronic kidney disease	Enrichment	WNT9B	0.89
309	Osteoporosis	Enrichment	WNT1	0.86
310	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	0.86
311	Cleft lip/palate	Enrichment	CDH1	0.86
312	Coloboma of macula	Enrichment	FZD5	0.84
313	Congenital myopathy 4a, autosomal dominant	Enrichment	RYR1	0.84
314	Corpus callosum, agenesis of	Enrichment	CDH2	0.84
315	Osteogenesis imperfecta, type iii	Enrichment	WNT1	0.84
316	Hydrocephalus	Enrichment	FZD3	0.84
317	Myopia	Enrichment	CACNA1F	0.84
318	Isolated corpus callosum agenesis	Enrichment	CDH2	0.84
319	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CDH2	0.84
320	Cone-rod dystrophy 2	Enrichment	CACNA1F, CACNA2D4	0.80
321	Inherited cancer-predisposing syndrome	Enrichment	APC, CDH1, CTNNA1	0.79
322	Polycystic liver disease	Enrichment	CTNNB1	0.79
323	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.79
324	Beckwith-wiedemann syndrome	Enrichment	RYR1	0.76
325	Neuromuscular disease	Enrichment	RYR1	0.76
326	Patent foramen ovale	Enrichment	PSMC3	0.76
327	Arteriovenous malformations of the brain	Enrichment	CDH2	0.74
328	Hereditary retinal dystrophy	Enrichment	CACNA1F, CACNA2D4, CDH3, CTNNA1, FZD4	0.73
329	Fundus dystrophy	Enrichment	CACNA1F, CACNA2D4, CDH3, CTNNA1, FZD4	0.73
330	Macs syndrome	Enrichment	WNT7B	0.72
331	Craniosynostosis	Enrichment	CTNNA1	0.72
332	Endometrial cancer	Enrichment	CDH1	0.70
333	Myocardial infarction	Enrichment	PSMA6	0.68
334	Microphthalmia	Enrichment	WNT7B	0.68
335	Skin disease	Enrichment	NCSTN	0.68
336	Brittle bone disorder	Enrichment	WNT1	0.67
337	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C	0.65
338	Cone dystrophy	Enrichment	CACNA2D4	0.65
339	Autoinflammatory disease	Enrichment	PSMB8	0.65
340	Scoliosis	Enrichment	RYR1	0.65
341	Tetralogy of fallot	Enrichment	NOTCH1	0.62
342	Hydrops fetalis, nonimmune	Enrichment	FZD6	0.62
343	Strabismus	Enrichment	CACNA1A	0.61
344	Bladder cancer	Enrichment	CTNNB1	0.58
345	Prostate cancer	Enrichment	CDH1	0.58
346	Severe covid-19	Enrichment	CASP10	0.58
347	Long qt syndrome 1	Enrichment	CACNA1C	0.57
348	Non-immune hydrops fetalis	Enrichment	FZD6	0.55
349	Lung cancer	Enrichment	CASP8	0.54
350	Connective tissue disease	Enrichment	NOTCH1	0.54
351	Left ventricular noncompaction	Enrichment	RYR2	0.51
352	Fetal akinesia deformation sequence 1	Enrichment	RYR1	0.49
353	Myopathy	Enrichment	RYR1	0.46
354	Type 2 diabetes mellitus	Enrichment	RBPJ	0.45
355	Microcephaly	Enrichment	CTNNB1, PSMC3	0.43
356	Optic atrophy plus syndrome	Enrichment	CACNA1F	0.43
357	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	0.43
358	Complex neurodevelopmental disorder	Enrichment	CACNA1C, DOCK3	0.43
359	Retinitis pigmentosa	Enrichment	CACNA1F, CACNA2D4, CDH3	0.42
360	Hereditary breast ovarian cancer syndrome	Enrichment	CTNNA1	0.36
361	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PSEN1	0.34

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

Presenilin-Mediated Signaling

Pathway Network for Presenilin-Mediated Signaling

Member Pathways for Presenilin-Mediated Signaling

Pathways in the Presenilin-Mediated Signaling SuperPath

Associated Genes for Presenilin-Mediated Signaling

Associated Disorders for Presenilin-Mediated Signaling

Disorders associated with Presenilin-Mediated Signaling SuperPath

STRING Interaction Network for Presenilin-Mediated Signaling

Sources for Presenilin-Mediated Signaling