Development_Hedgehog and PTH signaling pathways in bone and cartilage development

No Pathway Network information available for Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Pathways in the Development_Hedgehog and PTH signaling pathways in bone and cartilage development SuperPath

#	Name	Source	Genes
1	Development_Hedgehog and PTH signaling pathways in bone and cartilage development	GeneGo (Thomson Reuters)	ADCY1 BGLAP CCNA1 CCNA2 CCND1 COL1A1 COL1A2 CREB1 EGR1 FOS GLI1 GLI2 GNA11 GNAQ GNAS IBSP IHH MMP13 PLCB1 PLCB2 PLCB3 PLCB4 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PTCH1 PTH PTH1R PTHLH RUNX2 SHH SMO SPP1 TNFSF11 VDR (see all 39) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	ADCY1	Adenylate Cyclase 1	Protein Coding	1
2	CCND1	Cyclin D1	Protein Coding	1
3	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	1
4	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	1
5	CCNA2	Cyclin A2	Protein Coding	1
6	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
7	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
8	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
9	EGR1	Early Growth Response 1	Protein Coding	1
10	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
11	GLI1	GLI Family Zinc Finger 1	Protein Coding	1
12	GLI2	GLI Family Zinc Finger 2	Protein Coding	1
13	GNA11	G Protein Subunit Alpha 11	Protein Coding	1
14	GNAQ	G Protein Subunit Alpha Q	Protein Coding	1
15	GNAS	GNAS Complex Locus	Protein Coding	1
16	IBSP	Integrin Binding Sialoprotein	Protein Coding	1
17	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	1
18	MMP13	Matrix Metallopeptidase 13	Protein Coding	1
19	PLCB2	Phospholipase C Beta 2	Protein Coding	1
20	PLCB3	Phospholipase C Beta 3	Protein Coding	1
21	PLCB4	Phospholipase C Beta 4	Protein Coding	1
22	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
23	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
24	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
25	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
26	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
27	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
28	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
29	PTCH1	Patched 1	Protein Coding	1
30	PTH	Parathyroid Hormone	Protein Coding	1
31	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	1
32	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	1
33	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
34	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	1
35	SPP1	Secreted Phosphoprotein 1	Protein Coding	1
36	VDR	Vitamin D Receptor	Protein Coding	1
37	TNFSF11	TNF Superfamily Member 11	Protein Coding	1
38	CCNA1	Cyclin A1	Protein Coding	1
39	PLCB1	Phospholipase C Beta 1	Protein Coding	1

Disorders associated with Development_Hedgehog and PTH signaling pathways in bone and cartilage development SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Melanoma, uveal	Enrichment	GNA11, GNAQ, PLCB4	6.36
2	Ellis-van creveld syndrome	Enrichment	GLI1, PRKACA, PRKACB	5.74
3	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	5.09
4	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	5.09
5	Pseudohypoparathyroidism	Enrichment	GNAS, PTH1R	5.09
6	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	5.09
7	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	5.09
8	Septopreoptic holoprosencephaly	Enrichment	GLI2, PTCH1, SHH	5.01
9	Midline interhemispheric variant of holoprosencephaly	Enrichment	GLI2, PTCH1, SHH	5.01
10	Microform holoprosencephaly	Enrichment	GLI2, PTCH1, SHH	4.92
11	Lobar holoprosencephaly	Enrichment	GLI2, PTCH1, SHH	4.92
12	Alobar holoprosencephaly	Enrichment	GLI2, PTCH1, SHH	4.84
13	Semilobar holoprosencephaly	Enrichment	GLI2, PTCH1, SHH	4.76
14	Brachydactyly, type e1	Enrichment	PTH1R, PTHLH	4.62
15	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	4.62
16	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	4.62
17	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	4.32
18	Polydactyly, preaxial ii	Enrichment	PTCH1, SHH	4.32
19	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	4.32
20	Capillary malformations, congenital	Enrichment	GNA11, GNAQ	4.10
21	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	3.92
22	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.92
23	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	3.92
24	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	3.78
25	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	3.45
26	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	3.36
27	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	3.21
28	Osteoporosis	Enrichment	COL1A1, COL1A2	3.14
29	Polydactyly, postaxial, type a1	Enrichment	GLI1, PTCH1	3.08
30	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	3.08
31	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	2.87
32	Macs syndrome	Enrichment	PTCH1, SHH	2.83
33	Brittle bone disorder	Enrichment	COL1A1, COL1A2	2.71
34	Holoprosencephaly 3	Enrichment	SHH	2.54
35	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	2.54
36	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.54
37	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.54
38	Curry-jones syndrome	Enrichment	SMO	2.54
39	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.54
40	Carney complex, type 1	Enrichment	PRKAR1A	2.54
41	Schilbach-rott syndrome	Enrichment	PTCH1	2.54
42	Osseous heteroplasia, progressive	Enrichment	GNAS	2.54
43	Microphthalmia/coloboma 5	Enrichment	SHH	2.54
44	Polydactyly, preaxial i	Enrichment	GLI1	2.54
45	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.54
46	Culler-jones syndrome	Enrichment	GLI2	2.54
47	Sturge-weber syndrome	Enrichment	GNAQ	2.54
48	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.54
49	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	2.54
50	Polydactyly, postaxial, type a8	Enrichment	GLI1	2.54
51	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.54
52	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.54
53	Auriculocondylar syndrome 2a	Enrichment	PLCB4	2.54
54	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.54
55	Myxoma, intracardiac	Enrichment	PRKAR1A	2.54
56	Acrocapitofemoral dysplasia	Enrichment	IHH	2.54
57	Holoprosencephaly 9	Enrichment	GLI2	2.54
58	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	2.54
59	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.54
60	Brachydactyly, type e2	Enrichment	PTHLH	2.54
61	Disorders of gnas inactivation	Enrichment	GNAS	2.54
62	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.54
63	Auriculocondylar syndrome 2b	Enrichment	PLCB4	2.54
64	Asphyxia neonatorum	Enrichment	COL1A1	2.54
65	Rickets	Enrichment	VDR	2.54
66	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.54
67	Turner syndrome	Enrichment	PTCH1	2.54
68	Monostotic fibrous dysplasia	Enrichment	GNAS	2.54
69	Monosomy 9q22.3	Enrichment	PTCH1	2.54
70	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Enrichment	GLI2	2.54
71	Phakomatosis cesiomarmorata	Enrichment	GNA11	2.54
72	Mazabraud syndrome	Enrichment	GNAS	2.54
73	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.54
74	Hirschsprung disease 1	Enrichment	IHH, SMO	2.51
75	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	2.24
76	Failure of tooth eruption, primary	Enrichment	PTH1R	2.24
77	Hypoparathyroidism, familial isolated, 1	Enrichment	PTH	2.24
78	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Enrichment	RUNX2	2.24
79	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	2.24
80	Metaphyseal chondrodysplasia, jansen type	Enrichment	PTH1R	2.24
81	Pallister-hall-like syndrome	Enrichment	SMO	2.24
82	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	2.24
83	Bruck syndrome 1	Enrichment	COL1A2	2.24
84	Metaphyseal dysplasia, spahr type	Enrichment	MMP13	2.24
85	Chondrodysplasia, blomstrand type	Enrichment	PTH1R	2.24
86	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	2.24
87	Spondyloepimetaphyseal dysplasia, missouri type	Enrichment	MMP13	2.24
88	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	2.24
89	Eiken syndrome	Enrichment	PTH1R	2.24
90	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.24
91	Pseudopseudohypoparathyroidism	Enrichment	GNAS	2.24
92	Solitary median maxillary central incisor	Enrichment	SHH	2.24
93	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.24
94	White-sutton syndrome	Enrichment	GLI2	2.24
95	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	2.24
96	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	2.24
97	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	2.24
98	Usher syndrome, type iv	Enrichment	PRKAR1A	2.24
99	Autosomal dominant hypocalcemia	Enrichment	GNA11	2.24
100	Acrodysostosis	Enrichment	PRKAR1A	2.24
101	Stickler syndrome, type ii	Enrichment	COL1A1	2.24
102	Fibrolamellar carcinoma	Enrichment	PRKACA	2.24
103	Ocular melanoma	Enrichment	PLCB4	2.24
104	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	2.24
105	Metaphyseal anadysplasia	Enrichment	MMP13	2.24
106	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	2.24
107	Postaxial polydactyly type b	Enrichment	GLI1	2.24
108	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	2.24
109	Dentinogenesis imperfecta	Enrichment	COL1A2	2.24
110	Isolated radial hemimelia	Enrichment	SHH	2.24
111	Brachydactyly, type a1	Enrichment	IHH	2.07
112	Cleidocranial dysplasia 1	Enrichment	RUNX2	2.07
113	Mccune-albright syndrome	Enrichment	GNAS	2.07
114	Syndactyly, type iv	Enrichment	SHH	2.07
115	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11	2.07
116	Holoprosencephaly 7	Enrichment	PTCH1	2.07
117	Caffey disease	Enrichment	COL1A1	2.07
118	Familial isolated hypoparathyroidism	Enrichment	PTH	2.07
119	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	2.07
120	Cleidocranial dysplasia	Enrichment	RUNX2	2.07
121	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	2.07
122	Melanoma of soft tissue	Enrichment	CREB1	2.07
123	Phenylketonuria	Enrichment	COL1A1	1.94
124	Schizencephaly	Enrichment	SHH	1.94
125	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.94
126	Auriculocondylar syndrome 1	Enrichment	PLCB4	1.94
127	Carney complex variant	Enrichment	PRKAR1A	1.94
128	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.94
129	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.94
130	Congenital generalized lipodystrophy	Enrichment	FOS	1.94
131	Mantle cell lymphoma	Enrichment	CCND1	1.94
132	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	1.94
133	Pediatric systemic lupus erythematosus	Enrichment	SPP1	1.94
134	Primary hyperparathyroidism	Enrichment	PTH	1.94
135	Enchondromatosis, multiple, ollier type	Enrichment	PTH1R	1.84
136	Von hippel-lindau syndrome	Enrichment	CCND1	1.84
137	Vitamin d-dependent rickets, type 2a	Enrichment	VDR	1.84
138	Histiocytoid hemangioma	Enrichment	FOS	1.84
139	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ	1.77
140	Basal cell nevus syndrome 1	Enrichment	PTCH1	1.77
141	Basal cell carcinoma 1	Enrichment	PTCH1	1.77
142	Keratoconus	Enrichment	COL1A1	1.77
143	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.77
144	Brachydactyly	Enrichment	GNAS	1.70
145	Congenital hydrocephalus	Enrichment	PTCH1	1.70
146	Overgrowth syndrome	Enrichment	PTCH1	1.70
147	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.64
148	Combined pituitary hormone deficiency	Enrichment	GLI2	1.64
149	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.59
150	Primary hyperaldosteronism	Enrichment	GNAS	1.59
151	Leukemia, chronic lymphocytic	Enrichment	CCND1	1.55
152	Septooptic dysplasia	Enrichment	SHH	1.47
153	Meningioma	Enrichment	SMO	1.47
154	Pulmonary disease, chronic obstructive	Enrichment	VDR	1.43
155	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.43
156	Medulloblastoma	Enrichment	PTCH1	1.40
157	Rhabdomyosarcoma	Enrichment	PTCH1	1.35
158	Inherited cancer-predisposing syndrome	Enrichment	PRKAR1A, PTCH1	1.26
159	Craniosynostosis	Enrichment	GLI2	1.25
160	Hepatocellular carcinoma	Enrichment	VDR	1.21
161	Microphthalmia	Enrichment	PTCH1	1.21
162	Systemic lupus erythematosus	Enrichment	SPP1	0.97
163	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	0.95
164	Centralopathic epilepsy	Enrichment	PLCB1	0.93
165	Nephrotic syndrome	Enrichment	RUNX2	0.93
166	West syndrome	Enrichment	PLCB1	0.92
167	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1	0.92
168	Body mass index quantitative trait locus 11	Enrichment	GNAS	0.87
169	Hypertelorism	Enrichment	COL1A1	0.86
170	Hereditary breast ovarian cancer syndrome	Enrichment	PTCH1	0.83
171	Myeloma, multiple	Enrichment	CCND1	0.83
172	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GLI2	0.83
173	Autism	Enrichment	SHH	0.73
174	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.71
175	Colorectal cancer	Enrichment	CCND1	0.65
176	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.64
177	Ovarian cancer	Enrichment	PTCH1	0.60

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

Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Pathway Network for Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Member Pathways for Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Pathways in the Development_Hedgehog and PTH signaling pathways in bone and cartilage development SuperPath

Associated Genes for Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Associated Disorders for Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Disorders associated with Development_Hedgehog and PTH signaling pathways in bone and cartilage development SuperPath

STRING Interaction Network for Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Sources for Development_Hedgehog and PTH signaling pathways in bone and cartilage development