Endochondral ossification

No Pathway Network information available for Endochondral ossification

Pathways in the Endochondral ossification SuperPath

#	Name	Source	Genes
1	Endochondral ossification	WikiPathways	ACAN ADAMTS1 ADAMTS4 ADAMTS5 AKT1 ALPL BMP6 BMP7 BMPR1A CAB39 CALM1 CDKN1C CHST11 COL10A1 COL2A1 CST5 CTSV DDR2 ENPP1 FGF18 FGF2 FGFR1 FGFR3 FRZB GH1 GHR GLI3 HDAC4 HMGCS1 IFT88 IGF1 IGF1R IGF2 IHH KIF3A MEF2C MGP MMP13 MMP9 NKX3-2 PLAT PLAU PRKACA PTCH1 PTH PTH1R PTHLH RUNX2 RUNX3 SCIN SERPINH1 SLC38A2 SOX5 SOX6 SOX9 SPP1 STAT1 STAT5B TGFB1 TGFB2 THRA TIMP3 VEGFA (see all 63) (see less)
2	Endochondral ossification with skeletal dysplasias	WikiPathways	ACAN ADAMTS1 ADAMTS4 ADAMTS5 AKT1 ALPL BMP6 BMP7 BMPR1A CAB39 CALM1 CDKN1C CHST11 COL10A1 COL2A1 CST5 CTSV DDR2 ENPP1 FGF18 FGF2 FGFR1 FGFR3 FRZB GH1 GHR GLI3 HDAC4 HMGCS1 IFT88 IGF1 IGF1R IGF2 IHH KIF3A MEF2C MGP MMP13 MMP9 NKX3-2 PLAT PLAU PRKACA PTCH1 PTH PTH1R PTHLH RUNX2 RUNX3 SCIN SERPINH1 SLC38A2 SOX5 SOX6 SOX9 SPP1 STAT1 STAT5B TGFB1 TGFB2 THRA TIMP3 VEGFA (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	HMGCS1	3-Hydroxy-3-Methylglutaryl-CoA Synthase 1	Protein Coding	2
2	HDAC4	Histone Deacetylase 4	Protein Coding	2
3	ADAMTS1	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1	Protein Coding	2
4	FGF18	Fibroblast Growth Factor 18	Protein Coding	2
5	SERPINH1	Serpin Family H Member 1	Protein Coding	2
6	RUNX3	RUNX Family Transcription Factor 3	Protein Coding	2
7	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	2
8	IFT88	Intraflagellar Transport 88	Protein Coding	2
9	CALM1	Calmodulin 1	Protein Coding	2
10	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	2
11	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	2
12	THRA	Thyroid Hormone Receptor Alpha	Protein Coding	2
13	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	2
14	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	2
15	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	2
16	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	2
17	SPP1	Secreted Phosphoprotein 1	Protein Coding	2
18	SOX9	SRY-Box Transcription Factor 9	Protein Coding	2
19	SOX5	SRY-Box Transcription Factor 5	Protein Coding	2
20	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	2
21	BMP7	Bone Morphogenetic Protein 7	Protein Coding	2
22	BMP6	Bone Morphogenetic Protein 6	Protein Coding	2
23	NKX3-2	NK3 Homeobox 2	Protein Coding	2
24	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	2
25	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	2
26	PTH	Parathyroid Hormone	Protein Coding	2
27	PTCH1	Patched 1	Protein Coding	2
28	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	2
29	SLC38A2	Solute Carrier Family 38 Member 2	Protein Coding	2
30	PLAU	Plasminogen Activator, Urokinase	Protein Coding	2
31	PLAT	Plasminogen Activator, Tissue Type	Protein Coding	2
32	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	2
33	CHST11	Carbohydrate Sulfotransferase 11	Protein Coding	2
34	DDR2	Discoidin Domain Receptor Tyrosine Kinase 2	Protein Coding	2
35	MMP13	Matrix Metallopeptidase 13	Protein Coding	2
36	MMP9	Matrix Metallopeptidase 9	Protein Coding	2
37	MGP	Matrix Gla Protein	Protein Coding	2
38	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	2
39	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	2
40	IGF2	Insulin Like Growth Factor 2	Protein Coding	2
41	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	2
42	IGF1	Insulin Like Growth Factor 1	Protein Coding	2
43	GLI3	GLI Family Zinc Finger 3	Protein Coding	2
44	GHR	Growth Hormone Receptor	Protein Coding	2
45	GH1	Growth Hormone 1	Protein Coding	2
46	ALPL	Alkaline Phosphatase, Biomineralization Associated	Protein Coding	2
47	FRZB	Frizzled Related Protein	Protein Coding	2
48	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	2
49	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	2
50	FGF2	Fibroblast Growth Factor 2	Protein Coding	2
51	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
52	ACAN	Aggrecan	Protein Coding	2
53	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	2
54	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	2
55	KIF3A	Kinesin Family Member 3A	Protein Coding	2
56	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	2
57	CDKN1C	Cyclin Dependent Kinase Inhibitor 1C	Protein Coding	2
58	CTSV	Cathepsin V	Protein Coding	2
59	CST5	Cystatin D	Protein Coding	2
60	SCIN	Scinderin	Protein Coding	2
61	SOX6	SRY-Box Transcription Factor 6	Protein Coding	2
62	CAB39	Calcium Binding Protein 39	Protein Coding	2
63	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	2

Disorders associated with Endochondral ossification SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Connective tissue disease	Enrichment	COL2A1, FGFR3, NKX3-2, SOX9	4.86
2	Metaphyseal anadysplasia	Enrichment	MMP13, MMP9	4.67
3	Brachydactyly, type e1	Enrichment	PTH1R, PTHLH	4.20
4	Silver-russell syndrome due to a point mutation	Enrichment	CDKN1C, IGF2	3.90
5	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	3.68
6	Colorectal cancer	Enrichment	AKT1, FGFR3, IGF2, SOX9	3.15
7	Marfan syndrome	Enrichment	COL2A1, TGFB2	3.03
8	Polydactyly, postaxial, type a1	Enrichment	GLI3, PTCH1	2.67
9	Gliosarcoma	Enrichment	FGFR1, FGFR3	2.61
10	Microform holoprosencephaly	Enrichment	FGFR1, PTCH1	2.61
11	Lobar holoprosencephaly	Enrichment	FGFR1, PTCH1	2.61
12	Giant cell glioblastoma	Enrichment	FGFR1, FGFR3	2.56
13	Beckwith-wiedemann syndrome	Enrichment	CDKN1C, IGF2	2.51
14	Semilobar holoprosencephaly	Enrichment	FGFR1, PTCH1	2.51
15	Craniosynostosis	Enrichment	FGFR3, GLI3	2.42
16	Stickler syndrome, type i	Enrichment	COL2A1	2.33
17	Pallister-hall syndrome	Enrichment	GLI3	2.33
18	Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans	Enrichment	ACAN	2.33
19	Hypochondroplasia	Enrichment	FGFR3	2.33
20	Proteus syndrome	Enrichment	AKT1	2.33
21	Osteoglophonic dysplasia	Enrichment	FGFR1	2.33
22	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	2.33
23	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.33
24	Thanatophoric dysplasia, type i	Enrichment	FGFR3	2.33
25	Trigonocephaly 1	Enrichment	FGFR1	2.33
26	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.33
27	Muenke syndrome	Enrichment	FGFR3	2.33
28	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.33
29	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.33
30	Czech dysplasia	Enrichment	COL2A1	2.33
31	Schilbach-rott syndrome	Enrichment	PTCH1	2.33
32	Polydactyly, preaxial iv	Enrichment	GLI3	2.33
33	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.33
34	Hypophosphatasia, adult	Enrichment	ALPL	2.33
35	Kniest dysplasia	Enrichment	COL2A1	2.33
36	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.33
37	Hypophosphatasia, childhood	Enrichment	ALPL	2.33
38	Keutel syndrome	Enrichment	MGP	2.33
39	Lamb-shaffer syndrome	Enrichment	SOX5	2.33
40	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	2.33
41	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.33
42	Osteogenesis imperfecta, type x	Enrichment	SERPINH1	2.33
43	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	2.33
44	Achondrogenesis, type ii	Enrichment	COL2A1	2.33
45	Arterial calcification, generalized, of infancy, 1	Enrichment	ENPP1	2.33
46	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.33
47	46,xy sex reversal 10	Enrichment	SOX9	2.33
48	Chromosome 2q37 deletion syndrome	Enrichment	HDAC4	2.33
49	Tolchin-le caignec syndrome	Enrichment	SOX6	2.33
50	46,xx sex reversal 2	Enrichment	SOX9	2.33
51	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.33
52	Laron syndrome	Enrichment	GHR	2.33
53	Spondylometaepiphyseal dysplasia, short limb-hand type	Enrichment	DDR2	2.33
54	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.33
55	Growth hormone insensitivity, partial	Enrichment	GHR	2.33
56	Spondyloepimetaphyseal dysplasia, aggrecan type	Enrichment	ACAN	2.33
57	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.33
58	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	2.33
59	Camurati-engelmann disease 2	Enrichment	TGFB2	2.33
60	Ossification of the posterior longitudinal ligament of spine	Enrichment	ENPP1	2.33
61	Acrocapitofemoral dysplasia	Enrichment	IHH	2.33
62	Spondyloepiphyseal dysplasia, kimberley type	Enrichment	ACAN	2.33
63	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits	Enrichment	CHST11	2.33
64	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.33
65	Iron overload	Enrichment	BMP6	2.33
66	Hypophosphatemic rickets, autosomal recessive, 2	Enrichment	ENPP1	2.33
67	Immunodeficiency 31a	Enrichment	STAT1	2.33
68	Cowden syndrome 6	Enrichment	AKT1	2.33
69	Cole disease	Enrichment	ENPP1	2.33
70	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.33
71	Brachydactyly, type e2	Enrichment	PTHLH	2.33
72	Immunodeficiency 31b	Enrichment	STAT1	2.33
73	Spondylo-megaepiphyseal-metaphyseal dysplasia	Enrichment	NKX3-2	2.33
74	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	2.33
75	Hartsfield syndrome	Enrichment	FGFR1	2.33
76	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.33
77	Prenatal benign hypophosphatasia	Enrichment	ALPL	2.33
78	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	Enrichment	HDAC4	2.33
79	Warburg-cinotti syndrome	Enrichment	DDR2	2.33
80	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.33
81	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	2.33
82	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	Enrichment	THRA	2.33
83	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.33
84	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.33
85	Turner syndrome	Enrichment	PTCH1	2.33
86	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.33
87	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.33
88	Hypochondrogenesis	Enrichment	COL2A1	2.33
89	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	2.33
90	Osteochondritis dissecans	Enrichment	ACAN	2.33
91	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	2.33
92	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.33
93	Monosomy 9q22.3	Enrichment	PTCH1	2.33
94	Hypopigmentation-punctate palmoplantar keratoderma syndrome	Enrichment	ENPP1	2.33
95	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Enrichment	CDKN1C	2.33
96	Lethal hydranencephaly-diaphragmatic hernia syndrome	Enrichment	PLAT	2.33
97	Mef2c-related disorder	Enrichment	MEF2C	2.33
98	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.33
99	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.33
100	Short stature-advanced bone age-early-onset osteoarthritis syndrome	Enrichment	ACAN	2.33
101	Hirschsprung disease 1	Enrichment	GLI3, IHH	2.10
102	Failure of tooth eruption, primary	Enrichment	PTH1R	2.03
103	Hypoparathyroidism, familial isolated, 1	Enrichment	PTH	2.03
104	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Enrichment	RUNX2	2.03
105	Sorsby fundus dystrophy	Enrichment	TIMP3	2.03
106	Metaphyseal chondrodysplasia, schmid type	Enrichment	COL10A1	2.03
107	Campomelic dysplasia	Enrichment	SOX9	2.03
108	Camurati-engelmann disease 1	Enrichment	TGFB1	2.03
109	Metaphyseal chondrodysplasia, jansen type	Enrichment	PTH1R	2.03
110	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1	2.03
111	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1	2.03
112	Metaphyseal dysplasia, spahr type	Enrichment	MMP13	2.03
113	Chondrodysplasia, blomstrand type	Enrichment	PTH1R	2.03
114	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	2.03
115	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	2.03
116	Spondyloepimetaphyseal dysplasia, missouri type	Enrichment	MMP13	2.03
117	Quebec platelet disorder	Enrichment	PLAU	2.03
118	Cervical cancer	Enrichment	FGFR3	2.03
119	Eiken syndrome	Enrichment	PTH1R	2.03
120	Legg-calve-perthes disease	Enrichment	COL2A1	2.03
121	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.03
122	Keratosis, seborrheic	Enrichment	FGFR3	2.03
123	Pfeiffer syndrome	Enrichment	FGFR1	2.03
124	Jackson-weiss syndrome	Enrichment	FGFR1	2.03
125	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1	2.03
126	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	Enrichment	CDKN1C	2.03
127	Silver-russell syndrome 3	Enrichment	IGF2	2.03
128	Growth hormone deficiency, isolated partial	Enrichment	GHR	2.03
129	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	2.03
130	Long qt syndrome 14	Enrichment	CALM1	2.03
131	Hypothyroidism, congenital, nongoitrous, 6	Enrichment	THRA	2.03
132	Immunodeficiency 31c	Enrichment	STAT1	2.03
133	Alpha-thalassemia/impaired intellectual development syndrome, x-linked	Enrichment	ALPL	2.03
134	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	2.03
135	Kowarski syndrome	Enrichment	GH1	2.03
136	Autosomal recessive hypophosphatemic rickets	Enrichment	ENPP1	2.03
137	Tibial hemimelia	Enrichment	GLI3	2.03
138	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	2.03
139	Synpolydactyly	Enrichment	GLI3	2.03
140	Preterm premature rupture of the membranes	Enrichment	SERPINH1	2.03
141	Pseudohypoparathyroidism	Enrichment	PTH1R	2.03
142	Camurati-engelmann disease	Enrichment	TGFB1	2.03
143	Metaphyseal anadysplasia 2	Enrichment	MMP9	2.03
144	Fibrolamellar carcinoma	Enrichment	PRKACA	2.03
145	Loeys-dietz syndrome 4	Enrichment	TGFB2	2.03
146	Hypophosphatasia	Enrichment	ALPL	2.03
147	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	2.03
148	Cervix carcinoma	Enrichment	FGFR3	2.03
149	Alpha thalassemia-x-linked intellectual disability syndrome	Enrichment	ALPL	2.03
150	Dystonia 28, childhood-onset	Enrichment	ENPP1	2.03
151	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	2.03
152	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	2.03
153	Short stature due to growth hormone qualitative anomaly	Enrichment	GH1	2.03
154	Postaxial polydactyly type b	Enrichment	GLI3	2.03
155	Arterial calcification of infancy	Enrichment	ENPP1	2.03
156	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	2.03
157	Juvenile polyposis of infancy	Enrichment	BMPR1A	2.03
158	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	2.03
159	Laron syndrome with immunodeficiency	Enrichment	STAT5B	2.03
160	Campomelic dysplasia and related disorders	Enrichment	SOX9	2.03
161	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	2.03
162	Ovarian cancer	Enrichment	AKT1, BMPR1A, PTCH1	1.94
163	Brachydactyly, type a1	Enrichment	IHH	1.86
164	Cleidocranial dysplasia 1	Enrichment	RUNX2	1.86
165	Crouzon syndrome	Enrichment	FGFR3	1.86
166	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR3	1.86
167	Achondroplasia	Enrichment	FGFR3	1.86
168	Mccune-albright syndrome	Enrichment	COL2A1	1.86
169	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.86
170	Larsen syndrome	Enrichment	FGFR3	1.86
171	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.86
172	Juvenile polyposis syndrome	Enrichment	BMPR1A	1.86
173	Acrocallosal syndrome	Enrichment	GLI3	1.86
174	Hypophosphatasia, infantile	Enrichment	ALPL	1.86
175	Aarskog-scott syndrome	Enrichment	GLI3	1.86
176	46,xx sex reversal 1	Enrichment	SOX9	1.86
177	Holoprosencephaly 7	Enrichment	PTCH1	1.86
178	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.86
179	Umbilical hernia	Enrichment	GLI3	1.86
180	Familial isolated hypoparathyroidism	Enrichment	PTH	1.86
181	Isolated growth hormone deficiency, type ib	Enrichment	GH1	1.86
182	Hamartoma	Enrichment	FGFR3	1.86
183	Testicular germ cell cancer	Enrichment	FGFR3	1.86
184	Cleidocranial dysplasia	Enrichment	RUNX2	1.86
185	Spermatocytoma	Enrichment	FGFR3	1.86
186	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.86
187	Multiple epiphyseal dysplasia	Enrichment	COL2A1	1.86
188	Testicular cancer	Enrichment	FGFR3	1.86
189	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	1.86
190	Isolated growth hormone deficiency, type ii	Enrichment	GH1	1.73
191	Polydactyly, preaxial ii	Enrichment	PTCH1	1.73
192	Saethre-chotzen syndrome	Enrichment	FGFR3	1.73
193	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.73
194	Pediatric systemic lupus erythematosus	Enrichment	SPP1	1.73
195	Primary hyperparathyroidism	Enrichment	PTH	1.73
196	Hemifacial hyperplasia	Enrichment	FGFR3	1.64
197	Enchondromatosis, multiple, ollier type	Enrichment	PTH1R	1.64
198	Alzheimer disease 2	Enrichment	PLAU	1.64
199	Retinal detachment	Enrichment	COL2A1	1.64
200	Congenital myopathy 3 with rigid spine	Enrichment	HMGCS1	1.64
201	Ventricular septal defect 1	Enrichment	BMP7	1.64
202	Congenital heart defects, multiple types, 4	Enrichment	BMP7	1.64
203	Holoprosencephaly	Enrichment	FGFR1	1.64
204	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	SOX9	1.64
205	Primary hypereosinophilic syndrome	Enrichment	FGFR1	1.64
206	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A	1.64
207	Atrial septal defect 1	Enrichment	TGFB2	1.56
208	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	ACAN	1.56
209	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.56
210	Basal cell nevus syndrome 1	Enrichment	PTCH1	1.56
211	Hemihyperplasia, isolated	Enrichment	IGF2	1.56
212	Pierre robin syndrome	Enrichment	SOX9	1.56
213	Holoprosencephaly 1	Enrichment	FGFR1	1.56
214	Testicular germ cell tumor	Enrichment	FGFR3	1.56
215	Pseudoxanthoma elasticum	Enrichment	ENPP1	1.56
216	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.56
217	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.56
218	Basal cell carcinoma 1	Enrichment	PTCH1	1.56
219	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.56
220	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.56
221	Breast adenocarcinoma	Enrichment	AKT1	1.56
222	Lung squamous cell carcinoma	Enrichment	FGFR3	1.56
223	46,xy disorder of sex development	Enrichment	FGFR3	1.56
224	Myeloma, multiple	Enrichment	FGFR3, HDAC4	1.56
225	Primary ovarian insufficiency	Enrichment	ADAMTS1, BMP6	1.51
226	Nevus, epidermal	Enrichment	FGFR3	1.49
227	Silver-russell syndrome 1	Enrichment	IGF2	1.49
228	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.49
229	Pilomyxoid astrocytoma	Enrichment	FGFR1	1.49
230	Congenital hydrocephalus	Enrichment	PTCH1	1.49
231	Overgrowth syndrome	Enrichment	PTCH1	1.49
232	Hypophosphatemic rickets	Enrichment	ENPP1	1.49
233	Melanocytic nevus syndrome, congenital	Enrichment	SOX5	1.44
234	Hemochromatosis, type 1	Enrichment	BMP6	1.44
235	Isolated growth hormone deficiency, type ia	Enrichment	GH1	1.44
236	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.44
237	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1	1.44
238	Ellis-van creveld syndrome	Enrichment	PRKACA	1.39
239	Loeys-dietz syndrome	Enrichment	TGFB2	1.39
240	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.39
241	Cowden syndrome	Enrichment	AKT1	1.39
242	Stickler syndrome	Enrichment	COL2A1	1.34
243	Primary bone dysplasia	Enrichment	FGFR3	1.34
244	46,xy complete gonadal dysgenesis	Enrichment	SOX9	1.30
245	Osteochondrodysplasia	Enrichment	FGFR3	1.30
246	Familial colorectal cancer type x	Enrichment	BMPR1A	1.30
247	Specific learning disability	Enrichment	GHR	1.30
248	Septooptic dysplasia	Enrichment	FGFR1	1.26
249	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	1.26
250	Meningioma	Enrichment	AKT1	1.26
251	Diaphragmatic hernia, congenital	Enrichment	GLI3	1.23
252	Hypercholesterolemia, familial, 1	Enrichment	GHR	1.23
253	Acute promyelocytic leukemia	Enrichment	STAT5B	1.23
254	Nk-cell enteropathy	Enrichment	IGF1R	1.23
255	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	1.20
256	Medulloblastoma	Enrichment	PTCH1	1.20
257	46,xy partial gonadal dysgenesis	Enrichment	SOX9	1.20
258	Wilms tumor 1	Enrichment	IGF2	1.17
259	Osteogenesis imperfecta, type iii	Enrichment	SERPINH1	1.17
260	Myopia	Enrichment	COL2A1	1.17
261	Familial hypercholesterolemia	Enrichment	GHR	1.17
262	Septopreoptic holoprosencephaly	Enrichment	PTCH1	1.17
263	Midline interhemispheric variant of holoprosencephaly	Enrichment	PTCH1	1.17
264	Rhabdomyosarcoma	Enrichment	PTCH1	1.14
265	Alzheimer disease, familial, 1	Enrichment	PLAU	1.12
266	Alobar holoprosencephaly	Enrichment	PTCH1	1.12
267	Heart, malformation of	Enrichment	COL2A1	1.09
268	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	1.09
269	Arteriovenous malformations of the brain	Enrichment	TIMP3	1.07
270	Ehlers-danlos syndrome	Enrichment	TGFB2	1.07
271	Williams-beuren syndrome	Enrichment	CDKN1C	1.05
272	Macs syndrome	Enrichment	PTCH1	1.05
273	Hepatoblastoma	Enrichment	FGFR3	1.03
274	Microphthalmia	Enrichment	PTCH1	1.01
275	Tooth agenesis	Enrichment	FGFR1	1.01
276	Brittle bone disorder	Enrichment	ALPL	0.99
277	Kallmann syndrome	Enrichment	FGFR1	0.99
278	Scoliosis	Enrichment	COL2A1	0.98
279	Strabismus	Enrichment	SOX5	0.93
280	Inherited cancer-predisposing syndrome	Enrichment	BMPR1A, PTCH1	0.90
281	Bladder cancer	Enrichment	FGFR3	0.90
282	Long qt syndrome 1	Enrichment	CALM1	0.88
283	Stargardt disease 1	Enrichment	COL2A1	0.88
284	Long qt syndrome	Enrichment	CALM1	0.87
285	Cystic fibrosis	Enrichment	TGFB1	0.86
286	Systemic lupus erythematosus	Enrichment	SPP1	0.78
287	Type 2 diabetes mellitus	Enrichment	ENPP1	0.75
288	Nephrotic syndrome	Enrichment	RUNX2	0.74
289	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	TGFB2	0.73
290	Hereditary breast carcinoma	Enrichment	AKT1	0.73
291	Body mass index quantitative trait locus 11	Enrichment	ENPP1	0.68
292	Hereditary breast ovarian cancer syndrome	Enrichment	PTCH1	0.65
293	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MEF2C	0.63
294	Breast cancer	Enrichment	AKT1	0.53
295	Congenital nervous system abnormality	Enrichment	FGFR3	0.41
296	Nervous system disease	Enrichment	FGFR3	0.41
297	Hereditary retinal dystrophy	Enrichment	COL2A1, TIMP3	0.41
298	Fundus dystrophy	Enrichment	COL2A1, TIMP3	0.41
299	Autism spectrum disorder	Enrichment	MEF2C	0.40
300	Microcephaly	Enrichment	IGF1R	0.36
301	Retinitis pigmentosa	Enrichment	IFT88	0.20

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

Endochondral ossification

Pathway Network for Endochondral ossification

Member Pathways for Endochondral ossification

Pathways in the Endochondral ossification SuperPath

Associated Genes for Endochondral ossification

Associated Disorders for Endochondral ossification

Disorders associated with Endochondral ossification SuperPath

STRING Interaction Network for Endochondral ossification

Sources for Endochondral ossification