Chondrodysplasia malady

Wikipedia: Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone...⁴⁴ more...

MalaCards: Chondrodysplasia is related to rhizomelic chondrodysplasia punctata and metaphyseal chondrodysplasia. An important gene associated with Chondrodysplasia is ARSE (arylsulfatase E (chondrodysplasia punctata 1)), and among its related pathways are Adenylate cyclase activating pathway and Regulation of CFTR gating (normal and CF). The compounds pacap 1-38 and nkh 477 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, liver and skin, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

chondrodysplasia 7 30

Diseases related to chondrodysplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 195)

id	Related Disease	Score	Top Affiliating Genes
1	rhizomelic chondrodysplasia punctata	35.2	MVK, GNPAT, CAT, PHYH, AGPS, PEX7
2	metaphyseal chondrodysplasia	35.0	LKMCD, FGF23, PTH, PTH1R, PTH2R, PTHLH
3	schmid metaphyseal chondrodysplasia	34.7	MATN3, CRELD2, COL10A1, COL8A1
4	chondrodysplasia punctata	33.2	PIPOX, BGN, SCP2, MVK, XG, CD99
5	jansen's metaphyseal chondrodysplasia	33.1	FGF23, PTH, PTH1R, PTH2R, PTHLH
6	rhizomelic chondrodysplasia punctata type 2	32.9	GNPAT, PHYH, AGPS, PEX7
7	rhizomelic chondrodysplasia punctata type 1	32.6	SCP2, HSD17B4, ACOX1, PEX7, HADHB
8	chondrodysplasia punctata 2 x-linked dominant	31.8	GNPAT, STS, EBP
9	diastrophic dysplasia	30.3	MATN3, CANT1, COMP, COL2A1, SLC26A2
10	ichthyosis	29.5	XG, ARSH, ARSE, ARSA, ARSB, GPR143
11	x-linked ichthyosis	29.0	XG, ARSH, SUMF1, STS
12	spondylometaphyseal dysplasia	27.8	TRPV4, COL10A1, COL2A1
13	hypophosphatemia	27.7	FGF23, PTH, PTH1R, PTHLH, PHEX
14	zellweger syndrome	27.4	PIPOX, SCP2, MVK, ARSH, CCDC62, GNPAT
15	kallmann syndrome	27.2	XG, ARSE, FGFR1, GPR143, STS
16	refsum disease	27.0	PIPOX, SCP2, GNPAT, HSD17B4, CAT, PHYH
17	achondrogenesis	27.0	CD36, TRIP11, COMP, COL2A1, SLC26A2
18	peroxisome biogenesis disorders	27.0	PIPOX, GNPAT, HSD17B4, CAT, PHEX, ACAA1
19	peroxisomal biogenesis disorder	27.0	PIPOX, GNPAT, HSD17B4, CAT, PHEX, ACAA1
20	chst3-related skeletal dysplasia	25.8	FLNB, FGFR1, FGFR2, FGFR3, HSPG2, PTH1R
21	osteoarthritis	25.5	BGN, CDKN1A, CD36, FMOD, FGFR1, MATN1
22	cholesterol	24.8	SCP2, MVK, CD36, FLNB, ARSH, HSPG2
23	hearing loss	24.7	CD36, FGFR2, FGFR3, HSD17B4, CAT, COL1A1
24	neuropathy	24.1	SCP2, CD36, ARSA, FGFR1, FGFR2, HSPG2
25	short stature	23.2	BMPR1B, CHST3, CD36, FLNB, ARSE, ARSB
26	dwarfism	22.7	ARSE, FGFR1, FGFR2, FGFR3, MATN1, MATN3
27	hepatitis	20.2	MVK, ATF2, CD99, CDKN1A, CD36, FLNB
28	neuronitis	18.5	BMPR1B, SCP2, ATF2, CDKN1A, CD36, FLNB
29	d-bifunctional protein deficiency	13.9	SCP2, HSD17B4, ACOX1, HADHB
30	familial male-limited precocious puberty	13.8	ADCY1, ADCY3, ADCY6, ADCY8, ADCY2, ADCY4
31	relapsing polychondritis	13.8	MATN1, COMP, COL2A1
32	infantile refsum disease	13.8	CAT, PEX1, PEX6
33	thiolase deficiency	13.8	HSD17B4, ACAA1, HADHB
34	neonatal adrenoleukodystrophy	13.8	PEX1, PEX10, PEX13, PEX26, PEX5
35	peroxisome biogenesis disorders, zellweger syndrome spectrum	13.8	PEX1, PEX10, PEX12, PEX2, PEX26, PEX6
36	enchondromatosis	13.8	PTH1R, PTH2R, PTHLH
37	peroxisomal disease	13.8	GNPAT, HSD17B4, PHYH, ACOX1, AGXT, SLC25A17
38	oncogenic osteomalacia	13.8	FGF23, PTH, PTH1R, PHEX
39	mucopolysaccharidosis vi	13.7	ARSH, ARSE, ARSB
40	metaphyseal dysplasia	13.7	MATN3, PTH, PTH1R, PTHLH, CRELD2, COL10A1
41	pseudohypoparathyroidism type ib	13.7	PTH, PTH1R, PTHLH
42	multiple epiphyseal dysplasia, dominant	13.7	MATN3, COMP, COL9A1
43	mucosulfatidosis	13.7	ARSD, ARSH, ARSE, ARSA, ARSB
44	peroxisome biogenesis disorders (pbd)	13.7	PEX1, PEX10, PEX13, PEX14, PEX2, PEX5
45	ketothiolase deficiency	13.7	ARSH, ACAA2, PEX2, PEX6
46	beta-ketothiolase deficiency	13.7	ARSH, ACAA1, ACAA2, PEX2, PEX6
47	clubfoot	13.7	CHST3, COL2A1, COL9A1, SLC26A2, GDF5
48	mccune albright syndrome	13.6	FGF23, PTHLH, ADCY1, ADCY2
49	semd	13.6	MATN3, COL2A1, ACAN
50	humoral hypercalcemia of malignancy	13.6	FGF23, PTH1R, PTHLH

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to chondrodysplasia:

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MGI Mouse Phenotypes related to chondrodysplasia:

²⁵ (show all 21)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	reproductive system phenotype	MP:0005389	9.2	AGPS, NPR2, PEX5, PEX7, ADCY3, HDAC6
2	endocrine/exocrine gland phenotype	MP:0005379	8.8	PEX7, PEX5, PEX2, PEX13, SMPD3, PTH
3	adipose tissue phenotype	MP:0005375	7.5	COL1A1, PHEX, PHYH, HADHB, PTHLH, FGFR2
4	respiratory system phenotype	MP:0005388	6.9	PTHLH, COL1A1, COL11A1, COL2A1, ACAN, NPR2
5	liver/biliary system phenotype	MP:0005370	6.7	ACAN, ACOX1, STAT1, PEX13, PEX2, PEX5
6	renal/urinary system phenotype	MP:0005367	6.5	PTHLH, COL2A1, PHEX, AGXT, PEX13, PEX2
7	homeostasis/metabolism phenotype	MP:0005376	5.3	AGXT, AGPS, ACOX1, ACAN, PHYH, PHEX
8	cardiovascular system phenotype	MP:0005385	5.2	TRPV4, PTH, PTHLH, COL1A1, COL2A1, STAT1
9	immune system phenotype	MP:0005387	4.6	PHEX, COL9A1, COL2A1, COL11A1, COMP, COL1A1
10	behavior/neurological phenotype	MP:0005386	3.9	STAT1, ACAN, PHYH, PHEX, COL2A1, COMP
11	growth/size phenotype	MP:0005378	3.1	BMPR1B, COL1A1, COL10A1, SMPD3, SUMF1, PTHLH
12	vision/eye phenotype	MP:0005391	INF	HSD17B4, HSPG2, PTHLH, COL1A1, COL8A1, COL2A1
13	limbs/digits/tail phenotype	MP:0005371	INF	GNPAT, IFT80, MATN3, IMPAD1, FGFR3, FGFR2
14	skeleton phenotype	MP:0005390	INF	COL9A1, PEX5, PEX2, SLC26A2, NPR2, STAT1
15	nervous system phenotype	MP:0003631	INF	ACAN, PHYH, PHEX, COL2A1, COL11A1, COL1A1
16	muscle phenotype	MP:0005369	INF	COL1A1, COMP, STAT1, NPR2, PEX13, PEX5
17	mortality/aging	MP:0010768	INF	SLC26A2, NPR2, STAT1, AGPS, ACAN, PHEX
18	craniofacial phenotype	MP:0005382	INF	SUMF1, PTHLH, PTH1R, PTH, DYM, TRIP11
19	hearing/vestibular/ear phenotype	MP:0005377	INF	COL1A1, COL11A1, COL2A1, COL9A1, PHEX, ACAN
20	cellular phenotype	MP:0005384	INF	COL1A1, COL10A1, SUMF1, PTHLH, DYM, PHEX
21	digestive/alimentary phenotype	MP:0005381	INF	PTHLH, COL1A1, COL11A1, COL2A1, PHEX, ACAN

Articles related to chondrodysplasia:

(show top 50)    (show all 143)

id	Title	Authors	Year	Affiliating Genes
1	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (21549340)	Vissers L.E.... Superti-Furga A.	2011	IMPAD1
2	Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? (21964829)	Unger S.... Superti-Furga A.	2011	TRPV4
3	Cytokines in bone diseases. Genetic defects of PTH/P THrP receptor in chondrodysplasia]. (20890029)	Ogata N.	2010	PTH1R
4	Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. (18854401)	Brown W.W.... McCormick K.L.	2009	PTH1R, PTHLH, FGF23
5	Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. (18395876)	Tysoe C.... Ellard S.	2008	EBP
6	Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. (16937129)	Garnier A.... Baumann C.	2007	ARSE
7	Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. (17625999)	Hellenbroich Y.... Gillessen-Kaesbach G.	2007	EBP
8	X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings. (17086568)	Umranikar S.... Chitayat D.	2006	EBP
9	A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. (15805157)	Demirhan O.... Lehmann K.	2005	BMPR1B, GDF5
10	Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. (16199550)	Otten C.... Zaucke F.	2005	COMP, MATN3
11	Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. (15880705)	Bateman J.F.... Savarirayan R.	2005	COL10A1
12	A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. (15703192)	Forlino A.... Rossi A.	2005	SLC26A2
13	Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. (15215498)	Thiele H.... Mundlos S.	2004	CHST3
14	Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (15075323)	Mann H.H.... Wagener R.	2004	COMP, MATN3, MATN4
15	A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. (15240651)	Bastepe M.... Gillis D.	2004	PTH, PTH1R
16	Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias. (14751560)	Legeai-Mallet L.... Bonaventure J.	2004	FGFR3, STAT1, CDKN1A
17	X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. (12567415)	Brunetti-Pierri N.... Parenti G.	2003	ARSE
18	Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)	Brites P.... Baes M.	2003	PEX7
19	Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia. (14569119)	Ridanpaa M.... Makitie O.	2003	COL10A1
20	Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. (12975777)	Whittock N.V.... Wakelin S.H.	2003	EBP
21	In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. (14692227)	Rossi A.... Supereti-Furga A.	2003	SLC26A2
22	Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer. (11839302)	Bogin O.... Hohenester E.	2002	COL10A1
23	Chondrodysplasia of gene knockout mice for aggrecan a nd link protein. (12975605)	Watanabe H.... Yamada Y.	2002	ACAN
24	Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). (12509714)	Herman G.E.... Metzenberg A.B.	2002	EBP
25	Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. (12124730)	Faiyaz-Ul-Haque M.... Tsui L.C.	2002	GDF5
26	Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024)	Braverman N.... Valle D.	2002	PEX7
27	Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease. (11115494)	Chan D.... Cheah K.S.	2001	COL10A1
28	Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the 'Japanese' type. (10929364)	Savarirayan R.... Rimoin D.L.	2000	COL10A1
29	Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)	Sztriha L.... Lestringant G.G.	2000	GNPAT, AGPS
30	Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize. (9920912)	Marks D.S.... Boot-Handford R.P.	1999	COL10A1
31	Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia. (9675039)	Fernandes R.J.... Eyre D.R.	1998	COL2A1
32	Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. (9822202)	Rossi A.... Superti-Furga A.	1998	SLC26A2
33	Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)	Ofman R.... Wanders R.J.	1998	PHYH, GNPAT, AGPS
34	Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. (9832466)	Karaplis A.C.... Amizuka N.	1998	PTH, PTH1R, PTHLH
35	Fibroblast growth factor receptor 3 and the human chondrodysplasias. (9300204)	Horton W.A.	1997	FGFR3
36	Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with schmid metaphyseal chondrodysplasia. (9067753)	Ikegawa S.... Nakamura Y.	1997	COL10A1
37	Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)	Motley A.M.... Distel B.	1997	PEX7, PEX5
38	Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)	Jansen G.A.... Wanders R.J.	1997	PHYH
39	X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. (9409863)	Parenti G.... Andria G.	1997	ARSE
40	Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)	Braverman N.... Valle D.	1997	PEX7
41	Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. (8782043)	Wallis G.A.... Boot-Handford R.P.	1996	COL10A1
42	Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. (8703170)	Schipani E.... Jueppner H.	1996	PTH1R, PTHLH
43	A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans. (8702127)	Superti-Furga A.... Gitzelmann R.	1996	SLC26A2
44	Molecular genetics of the human chondrodysplasias-1995. (8825578)	Horton W.A.	1995	FGFR3, COMP, COL2A1
45	A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. (7720070)	Franco B.... Ballabio A.	1995	ARSE, ARSF, ARSD
46	Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia. (8012364)	Dharmavaram R.M.... Jimenez S.A.	1994	COL10A1
47	Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833)	Das S.... Gitschier J.	1994	BGN
48	Molecular genetics of chondrodysplasias, including clues to development, structure, and function. (8060773)	Byers P.H.	1994	COL10A1
49	Rhizomelic Chondrodysplasia Punct ata Type 1 (20301447)	Braverman N.E.... Steinberg S.J.	1993	PEX7
50	Chondrodysplasia punctata (the Conradi-Hunermann syndrome). A clinical case report and review of the literature (8341225)	Omobono E.... Goetsch W.	1993	PHYH, GNPAT

Genes related to chondrodysplasia according to GeneCards:

(show top 50)    (show all 102)

id	Symbol	Description	Score	GeneCards Section Context
1	ARSE	arylsulfatase E (chondrodysplasia punctata 1)	11.1	Publications, Summaries, Orthologs, Transcripts (show all 5 sections) Aliases & Descriptions
2	EBP	emopamil binding protein (sterol isomerase)	11.1	Publications, Summaries, Aliases & Descriptions
3	PTH1R	parathyroid hormone 1 receptor	11.1	Summaries, Publications
4	PEX7	peroxisomal biogenesis factor 7	11.1	Summaries, Orthologs, Publications
5	GNPAT	glyceronephosphate O-acyltransferase	11.1	Summaries, Publications
6	AGPS	alkylglycerone phosphate synthase	11.1	Publications, Summaries, Orthologs
7	COL10A1	collagen, type X, alpha 1	11.1	Summaries, Publications
8	PHYH	phytanoyl-CoA 2-hydroxylase	11.1	Publications, Summaries
9	COL2A1	collagen, type II, alpha 1	11.1	Summaries, Publications
10	LKMCD	Leukoencephalopathy with metaphyseal chondrodysplasia	11.1	Aliases & Descriptions
11	PEX26	peroxisomal biogenesis factor 26	11.0	Summaries
12	GDF5	growth differentiation factor 5	11.0	Publications, Summaries
13	CPBHM	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	11.0	Aliases & Descriptions
14	SLC26A2	solute carrier family 26 (sulfate transporter), member 2	11.0	Publications, Summaries
15	IMPAD1	inositol monophosphatase domain containing 1	11.0	Summaries, Publications
16	MATN1	matrilin 1, cartilage matrix protein	11.0	Publications, Summaries
17	HOXC8	homeobox C8	11.0	Summaries
18	ADCY4	adenylate cyclase 4	11.0	Summaries
19	ADCY6	adenylate cyclase 6	11.0	Summaries
20	ADCY7	adenylate cyclase 7	11.0	Summaries
21	ADCY3	adenylate cyclase 3	11.0	Summaries
22	COL9A1	collagen, type IX, alpha 1	11.0	Summaries
23	ADCY5	adenylate cyclase 5	11.0	Summaries
24	ADCY9	adenylate cyclase 9	11.0	Summaries
25	ADCY8	adenylate cyclase 8 (brain)	11.0	Summaries
26	ADCY1	adenylate cyclase 1 (brain)	11.0	Summaries
27	ADCY2	adenylate cyclase 2 (brain)	11.0	Summaries
28	HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	11.0	Publications
29	ACOX1	acyl-CoA oxidase 1, palmitoyl	11.0
30	SCP2	sterol carrier protein 2	11.0	Publications
31	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	11.0
32	ACAA1	acetyl-CoA acyltransferase 1	11.0	Publications
33	MVK	mevalonate kinase	11.0	Publications
34	CAT	catalase	11.0	Publications
35	PEX16	peroxisomal biogenesis factor 16	11.0
36	PEX12	peroxisomal biogenesis factor 12	11.0
37	PEX10	peroxisomal biogenesis factor 10	11.0
38	PEX13	peroxisomal biogenesis factor 13	11.0
39	PIPOX	pipecolic acid oxidase	11.0
40	PEX6	peroxisomal biogenesis factor 6	11.0
41	PEX19	peroxisomal biogenesis factor 19	11.0
42	CRELD2	cysteine-rich with EGF-like domains 2	11.0
43	ARSD	arylsulfatase D	11.0	Publications
44	PEX2	peroxisomal biogenesis factor 2	11.0
45	PEX3	peroxisomal biogenesis factor 3	11.0
46	HACL1	2-hydroxyacyl-CoA lyase 1	11.0
47	ARSH	arylsulfatase family, member H	11.0	Publications
48	PTH	parathyroid hormone	11.0	Publications
49	SLC25A17	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	11.0	Publications
50	PTH2R	parathyroid hormone 2 receptor	11.0	Publications

Pathways related to chondrodysplasia according to GeneDecks:

(show top 50)    (show all 87)

id	Pathway	Score	Top Affiliating Genes
1	Adenylate cyclase activating pathway38	10.7	ADCY9, ADCY1, ADCY3, ADCY6, ADCY8, ADCY2
2	Regulation of CFTR gating (normal and CF)41	10.7	ADCY8, ADCY2, ADCY4, ADCY6, ADCY7, ADCY9
3	Beta-2 adrenergic-dependent CFTR expression41	10.7	ADCY4, ADCY5, ADCY8, ADCY9, ADCY7, ADCY1
4	Adenylate cyclase-activating neuropeptides10	10.7	ADCY9, ADCY6, ADCY5, ADCY4, ADCY2, ADCY8
5	Neurophysiological process_PGE2-induced pain processing41	10.7	ADCY4, ADCY5, ADCY7, ADCY9, ADCY1, ADCY6
6	Neurophysiological process PGE2-induced pain processing10	10.7	ADCY9, ADCY7, ADCY5, ADCY2, ADCY8, ADCY6
7	Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling41	10.7	ADCY9, ADCY5, ADCY7, ADCY4, ADCY3, ADCY1
8	Proton Pump Inhibitor Pathway, Pharmacodynamics34	10.7	ADCY1, ADCY3, ADCY6, ADCY8, ADCY5, ADCY2
9	Development Beta-adrenergic receptors signaling via cAMP10	10.7	ADCY1, ADCY6, ADCY8, ADCY2, ADCY4, ADCY5
10	Development_Beta-adrenergic receptors signaling via cAMP41	10.7	ADCY6, ADCY3, ADCY1, ADCY8, ADCY2, ADCY4
11	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics34	10.7	ADCY1, ADCY3, ADCY6, ADCY8, ADCY2, ADCY4
12	Development Beta-adrenergic receptors regulation of ERK10	10.6	ADCY3, ADCY1, ADCY6, ADCY2, ADCY4, ADCY5
13	Development_Beta-adrenergic receptors regulation of ERK41	10.6	ADCY1, ADCY6, ADCY3, ADCY9, ADCY7, ADCY5
14	Development_Endothelin-1/EDNRA signaling41	10.6	ADCY7, ADCY5, ADCY9, ADCY8, ADCY4, ADCY2
15	Bile secretion20	10.6	ADCY2, ADCY1, ADCY8, ADCY3, ADCY6, ADCY9
16	Development Endothelin-1/EDNRA signaling10	10.6	ADCY7, ADCY4, ADCY9, ADCY5, ADCY2, ADCY8
17	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation10	10.6	ADCY5, ADCY4, ADCY2, ADCY8, ADCY6, ADCY3
18	Cytoskeleton remodeling_Role of PKA in cytoskeleton reorganisation41	10.6	ADCY5, ADCY1, ADCY9, ADCY7, ADCY4, ADCY2
19	Gastric acid secretion20	10.6	ADCY1, ADCY3, ADCY6, ADCY8, ADCY2, ADCY7
20	Signal transduction_cAMP signaling41	10.5	ADCY5, ADCY9, ADCY7, ADCY3, ADCY4, ADCY2
21	Melanogenesis20	10.5	ADCY5, CREB3, ADCY9, ADCY1, ADCY3, ADCY6
22	Signal transduction cAMP signaling10	10.5	ADCY1, ADCY7, ADCY5, ADCY2, ADCY8, ADCY6
23	Progesterone-mediated oocyte maturation20	10.5	ADCY1, ADCY3, ADCY8, ADCY9, ADCY2, ADCY4
24	Signal transduction_PKA signaling41	10.4	ADCY3, ADCY6, ADCY9, ADCY7, ADCY5, ADCY4
25	Cholinergic synapse20	10.4	ADCY3, ADCY9, CREB3, ADCY1, ADCY6, ADCY7
26	Signal transduction PKA signaling10	10.4	ADCY2, ADCY5, ADCY7, ADCY9, ADCY8, ADCY4
27	Relaxin Pathway36	10.4	ADCY8, ADCY7, ADCY5, ADCY9, ADCY4, ADCY2
28	Vascular smooth muscle contraction20	10.4	NPR2, ADCY1, ADCY6, ADCY4, ADCY2, ADCY3
29	Salivary secretion20	10.4	ADCY4, ADCY5, ADCY9, ADCY2, ADCY8, ADCY1
30	Regulation of CFTR activity (norm and CF)41	10.3	ADCY7, ADCY1, FLNB, ADCY3, ADCY6, ADCY8
31	Dilated cardiomyopathy20	10.3	ADCY4, ADCY1, ADCY5, ADCY7, ADCY9, ADCY3
32	Gap junction20	10.2	ADCY7, ADCY8, ADCY6, ADCY5, ADCY9, ADCY4
33	Purine metabolism20	10.1	ADCY9, ADCY8, ADCY2, ADCY3, CANT1, NPR2
34	Development_Role of Activin A in cell differentiation and proliferation41	10.1	ADCY5, ADCY2, ADCY8, ADCY6, ADCY3, ADCY4
35	Development Role of Activin A in cell differentiation and proliferation10	10.1	ADCY9, CDKN1A, ADCY1, ADCY3, ADCY6, ADCY8
36	Hedgehog Signaling in Mammals36	10.0	ADCY7, ADCY9, ADCY3, ADCY5, ADCY4, ADCY2
37	Metabolism of lipids and lipoproteins38	9.8	SUMF1, GNPAT, ARSA, ARSE, ARSH, ARSF
38	Peroxisome20	9.5	HACL1, ACOX1, PEX12, PEX10, PEX1, SLC27A2
39	Transendothelial Migration of Leukocytes36	9.5	ADCY2, ADCY1, CD99, COL10A1, COL1A1, ADCY3
40	Colorectal Cancer Metastasis36	9.4	ADCY2, ADCY6, STAT1, ADCY1, ADCY3, ADCY8
41	Activation of PKC through GPCR36	9.4	ADCY6, CREB3, FGFR2, FGFR1, ADCY1, ADCY3
42	eNOS Signaling36	9.4	ADCY3, ADCY6, ADCY8, ADCY2, ADCY4, ADCY5
43	Activation of PKA through GPCR36	9.3	GDF5, ADCY6, ADCY9, ADCY7, ADCY5, ADCY4
44	GnRH Signaling36	9.2	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
45	Breast Cancer Regulation by Stathmin136	8.8	ADCY5, GDF5, ADCY7, ADCY4, CDKN1A, FGF23
46	Phospholipase-C Pathway36	8.2	FGFR2, ADCY9, HDAC6, GDF5, ADCY7, ADCY5
47	ERK Signaling36	7.8	STAT1, COL2A1, ADCY6, FGFR1, FGFR2, FGFR3
48	Molecular Mechanisms of Cancer36	7.5	ADCY3, ADCY6, ADCY8, ADCY2, ADCY4, ADCY5
49	MAPK Signaling36	7.5	ADCY8, ADCY6, ADCY3, ADCY1, STAT1, COL9A1
50	ILK Signaling36	7.5	HSPG2, FGFR3, FGFR2, FGFR1, FGF23, FLNB

Compounds related to chondrodysplasia according to GeneDecks:

(show top 50)    (show all 73)

id	Compound	Score	Top Affiliating Genes
1	pacap 1-3842	10.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
2	nkh 47742	10.7	ADCY8, ADCY6, ADCY3, ADCY1, ADCY2, ADCY4
3	bpipp42	10.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
4	sq 2253632 42	11.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
5	Pyruvic acid9 18 9	12.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
6	3-oxoacyl-coa32	10.5	ACAA1, GNPAT, SCP2
7	mucopolysaccharide32	10.5	STS, ARSB, ARSA, ARSH
8	formylglycine32	10.5	SUMF1, ARSB, ARSA, ARSH
9	phytanic acid32	10.5	HACL1, SLC27A2, ACAA1, PHYH, CAT, GNPAT
10	cerebroside32	10.5	STS, ARSB, ARSA, ARSH
11	lignoceric acid32	10.5	HADHB, SLC27A2, GNPAT
12	phosphoric acid32 18	11.5	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
13	nadh32 9 18 9	13.4	ADCY2, ADCY4, ADCY5, ADCY7, ADCY9, ADCY8
14	estrone32 9 18 9	13.4	STS, PTH, HSD17B4, ARSB, ARSA, ARSE
15	sterol32	10.3	HADHB, EBP, PMVK, STS, ACOX1, CREB3
16	acyl-coa32	10.3	SLC27A2, PEX5, PEX6, HADHB, SLC25A17, AGXT
17	pyrophosphate32 18	11.2	ADCY2, ADCY4, ADCY5, ADCY7, ADCY9, ADCY8
18	phosphorus32	10.1	PHEX, PTHLH, PTH1R, PTH, FGF23
19	chondroitin32 18	11.0	ACAN, ARSB, FMOD, CHST3, BGN
20	magnesium32 9 18 9	12.9	ADCY8, ADCY2, ADCY4, ADCY5, ADCY7, ADCY9
21	pd 16157042	9.7	FGFR3, FGFR2, FGFR1
22	fatty acid32	9.6	STAT1, SLC27A2, PEX7, HADHB, AGPS, ACOX1
23	hydroxyproline32 18	10.6	AGPS, COL2A1, COL1A1, PTHLH, PTH, CD36
24	su540232	9.5	FGFR3, FGFR2, FGFR1
25	cyclic amp32 18	10.5	ADCY6, ADCY8, ADCY2, ADCY4, ADCY5, ADCY7
26	alginate32	9.5	ACAN, COL2A1, COMP, MATN1, CD36
27	su 540242	9.5	FGFR3, FGFR2, FGFR1
28	palifermin32 9 9	11.4	HSPG2, FGFR3, FGFR2, FGFR1
29	sulfate32 18	10.3	COMP, COL2A1, ACAN, STS, SLC26A2, FGFR3
30	forskolin32 42 9 9	12.3	ADCY8, ADCY2, ADCY4, ADCY5, ADCY7, ADCY9
31	procollagen32	9.2	ACAN, COL2A1, COMP, COL1A1, PTH, MATN1
32	keratan sulfate32	9.2	HAPLN1, ACAN, COMP, FMOD, CD36, CHST3
33	adenylate32	9.0	ADCY9, ADCY5, ADCY2, ADCY6, ADCY3, ADCY1
34	Adenosine triphosphate9 18 9	10.9	ADCY8, ADCY2, ADCY4, ADCY5, ADCY7, ADCY9
35	heparan sulfate32 18	9.8	ACAN, PTHLH, HSPG2, FGFR2, FGFR1, ARSA
36	proline32	8.8	CREB3, COMP, PHEX, ACAN, STAT1, PTH1R
37	steroid32	8.6	PTHLH, SHOX, STAT1, STS, HDAC6, FGFR2
38	calcitriol32 42 9 18 9	12.3	STAT1, PHEX, PTHLH, PTH1R, PTH, FGF23
39	glycosaminoglycan32	8.2	CHST3, COL2A1, COMP, COL1A1, MATN1, FGFR2
40	chondroitin sulfate32 18	9.1	HAPLN1, ACAN, COMP, FGFR2, FGFR1, ARSB
41	lipid32	8.1	COMP, COL2A1, PHYH, ACOX1, STAT1, STS
42	nitric oxide32 9 18 9	10.9	SMPD3, COL2A1, ACAN, STAT1, NPR2, ADCY1
43	vitamin d32	7.5	COMP, COL2A1, PHEX, ACAN, STAT1, COL1A1
44	pge232	7.4	ADCY1, STAT1, ACAN, COL1A1, PTHLH, PTH1R
45	atp32	7.4	PMVK, NPR2, SLC25A17, SLC27A2, PEX5, PEX6
46	oligonucleotide32	7.0	COL1A1, COMP, COL11A1, COL2A1, STAT1, STS
47	cysteine32	6.9	COL1A1, COMP, COL2A1, AGXT, STAT1, STS
48	calcium32 9 18 9	9.1	PEX6, NPR2, STS, AGXT, PHEX, COL2A1
49	retinoic acid32 42 18	7.8	COL1A1, COMP, COL2A1, ACAN, ACOX1, STAT1
50	serine32	5.4	HSPG2, PTH1R, PTHLH, COL1A1, COL2A1, AGPS

Cellular components related to chondrodysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	peroxisomal matrix	GO:005782	10.3	CAT, HSD17B4, GNPAT, SCP2, PHYH, ACAA1
2	integral to peroxisomal membrane	GO:005779	10.1	PEX3, PEX26, PEX2, PEX16, PEX13, PEX12
3	peroxisomal membrane	GO:005778	9.6	PEX6, PEX5, PEX3, PEX2, PEX19, PEX16
4	proteinaceous extracellular matrix	GO:005578	9.6	ACAN, COMP, MATN3, MATN1, FMOD, BGN
5	peroxisome	GO:005777	9.5	PEX1, SLC25A17, PMVK, AGXT, AGPS, ACOX1
6	lysosomal lumen	GO:043202	9.2	ACAN, HSPG2, ARSB, ARSA, FMOD, BGN
7	endoplasmic reticulum lumen	GO:005788	9.0	COL8A1, COL11A1, COL2A1, COL9A1, STS, SLC27A2
8	extracellular matrix	GO:031012	8.5	HAPLN1, ACAN, COMP, COL8A1, COL1A1, HSPG2
9	Golgi apparatus	GO:005794	7.6	PTHLH, CREB3, CRELD2, PHEX, STS, PEX5

Biological processes related to chondrodysplasia according to GeneDecks:

(show all 42)

id	Name	GO ID	Score	Top Affiliating Genes
1	activation of protein kinase A activity	GO:034199	10.7	ADCY1, ADCY3, ADCY6, ADCY8, ADCY2, ADCY4
2	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	GO:007193	10.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
3	cellular response to glucagon stimulus	GO:071377	10.7	ADCY3, ADCY6, ADCY8, ADCY2, ADCY4, ADCY5
4	cAMP biosynthetic process	GO:006171	10.7	ADCY1, ADCY6, ADCY2, ADCY4
5	water transport	GO:006833	10.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
6	ether lipid biosynthetic process	GO:008611	10.7	PEX7, AGPS, GNPAT
7	unsaturated fatty acid metabolic process	GO:033559	10.7	HSD17B4, ACAA1, ACOX1, SCP2
8	activation of phospholipase C activity	GO:007202	10.7	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
9	alpha-linolenic acid metabolic process	GO:036109	10.7	SCP2, HSD17B4, ACAA1, ACOX1
10	fatty acid beta-oxidation using acyl-CoA oxidase	GO:033540	10.7	ACOX1, SCP2, HSD17B4, ACAA1
11	energy reserve metabolic process	GO:006112	10.6	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
12	protein import into peroxisome membrane	GO:045046	10.6	PEX5, PEX3, PEX26, PEX19, PEX16
13	epidermal growth factor receptor signaling pathway	GO:007173	10.6	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
14	peroxisome membrane biogenesis	GO:016557	10.6	PEX3, PEX19, PEX16
15	adenylate cyclase-activating G-protein coupled receptor signaling pathway	GO:007189	10.6	ADCY6, ADCY8, ADCY2, ADCY4, ADCY5, ADCY7
16	nerve growth factor receptor signaling pathway	GO:048011	10.6	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
17	protein import into peroxisome matrix, translocation	GO:016561	10.5	PEX14, PEX5, PEX6
18	protein targeting to peroxisome	GO:006625	10.5	PEX6, PEX5, PEX19, PEX16, PEX12, PEX1
19	protein import into peroxisome matrix	GO:016558	10.5	PEX5, PEX7, PEX26, PEX2, PEX1, PEX10
20	intracellular signal transduction	GO:035556	10.5	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
21	transmembrane transport	GO:055085	10.5	ADCY9, ADCY7, ADCY5, ADCY4, ADCY2, ADCY8
22	peroxisome organization	GO:007031	10.4	PEX1, PEX10, PEX12, PEX14, PEX16, PEX19
23	fatty acid alpha-oxidation	GO:001561	10.4	HACL1, PEX13, SLC27A2, SLC25A17, PHYH
24	endochondral ossification	GO:001958	10.3	PEX7, COL2A1, COL1A1, PTHLH, IMPAD1, FGFR3
25	synaptic transmission	GO:007268	10.3	ADCY7, ADCY5, ADCY4, ADCY2, ADCY8, ADCY6
26	bile acid biosynthetic process	GO:006699	10.3	SCP2, HSD17B4, SLC27A2, PEX2
27	chondrocyte differentiation	GO:002062	10.2	COL9A1, COL2A1, PTH1R, FGFR3, FGFR1
28	fatty acid beta-oxidation	GO:006635	10.2	HADHB, HSD17B4, ACAA1, ACAA2, SLC25A17, SLC27A2
29	cholesterol biosynthetic process	GO:006695	10.2	EBP, PMVK, ACAA2, MVK
30	glycosphingolipid metabolic process	GO:006687	10.1	STS, SMPD3, SUMF1, ARSB, ARSA, ARSE
31	sphingolipid metabolic process	GO:006665	10.1	STS, SMPD3, SUMF1, ARSB, ARSA, ARSE
32	post-translational protein modification	GO:043687	10.1	STS, SUMF1, ARSB, ARSA, ARSE, ARSH
33	very long-chain fatty acid metabolic process	GO:000038	10.0	PEX5, ACOX1, ACAA1
34	phospholipid metabolic process	GO:006644	10.0	HADHB, STS, SMPD3, SUMF1, GNPAT, ARSB
35	bile acid metabolic process	GO:008206	10.0	SCP2, HSD17B4, ACAA1, SLC27A2
36	chondroitin sulfate metabolic process	GO:030204	9.9	HSPG2, IMPAD1, ARSB, CHST3, BGN
37	fibroblast growth factor receptor signaling pathway	GO:008543	9.5	ADCY2, ADCY4, ADCY5, ADCY7, ADCY9, ADCY8
38	positive regulation of phospholipase activity	GO:010518	9.5	FGFR1, FGFR2, FGFR3
39	cellular lipid metabolic process	GO:044255	9.5	AGPS, SLC25A17, SLC27A2, HACL1, HADHB, ACOX1
40	glycosaminoglycan metabolic process	GO:030203	9.4	ACAN, HSPG2, ARSB, FMOD, CHST3, BGN
41	skeletal system development	GO:001501	9.0	COL10A1, COL1A1, COMP, COL2A1, PHEX, SHOX
42	small molecule metabolic process	GO:044281	7.3	BGN, HSD17B4, HSPG2, CAT, SUMF1, SMPD3

Molecular functions related to chondrodysplasia according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	adenylate cyclase activity	GO:004016	10.6	ADCY3, ADCY9, ADCY7, ADCY4, ADCY2, ADCY8
2	calcium- and calmodulin-responsive adenylate cyclase activity	GO:008294	10.5	ADCY5, ADCY2, ADCY8, ADCY6, ADCY1
3	arylsulfatase activity	GO:004065	10.3	ARSB, ARSA, ARSE, ARSH, ARSF, ARSD
4	acetyl-CoA C-acyltransferase activity	GO:003988	10.2	ACAA1, ACAA2, HADHB
5	receptor binding	GO:005102	9.9	HACL1, ADCY6, PEX14, SLC27A2, AGXT, ACOX1
6	protein C-terminus binding	GO:008022	9.8	PEX6, PEX5, PEX26, PEX16, PEX12, PEX10
7	extracellular matrix structural constituent	GO:005201	9.5	ACAN, COL11A1, COMP, COL1A1, MATN3, MATN1
8	fibroblast growth factor-activated receptor activity	GO:005007	9.1	FGFR3, FGFR2, FGFR1
9	metal ion binding	GO:046872	8.7	ACAN, STS, ADCY1, ADCY3, ADCY6, ADCY8
10	ATP binding	GO:005524	8.2	ADCY1, ADCY3, ADCY6, ADCY8, ADCY2, ADCY4
11	protein binding	GO:005515	4.0	PEX13, PEX12, PEX10, PEX1, SLC25A17, STAT1