adisease

Showing entry for Brachydactyly

General Disease Information
BXGD Id	BXGD004449
Disease Name	Brachydactyly
Disease CUI Id	C0221357
MeSH Codes	C16 C05
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0040064 HP:0000924
Human Phenotype Ontology Term	Abnormality of limbs; Abnormality of the skeletal system
Disease Ontology Id
Disease Ontology Class Name
Disorder Network	disorder-protein-compound-food associations

The disease-related target proteins

Proteins

Uniport Id	BXGT Id	Protein Name	Gene	Status	Protein Class
Uniport Id	BXGT Id	Protein name	Gene	Status	Protein class
A0A024RAV5	BXGT000013	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b	3845	unreviewed
O00238	BXGT003900	Bone morphogenetic protein receptor type-1B	658	reviewed	Kinase
O14764	BXGT004094	Gamma-aminobutyric acid receptor subunit delta	2563	reviewed	Ion channel
O15297	BXGT004149	Protein phosphatase 1D	8493	reviewed	Enzyme
O15357	BXGT004156	Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2	3636	reviewed
O15553	BXGT004181	Pyrin	4210	reviewed
O43318	BXGT004586	Mitogen-activated protein kinase kinase kinase 7	6885	reviewed	Kinase
O75367	BXGT005117	Core histone macro-H2A.1	9555	reviewed	Nucleic acid binding
O75369	BXGT005119	Filamin-B	2317	reviewed
P00439	BXGT005539	Phenylalanine-4-hydroxylase	5053	reviewed
P01111	BXGT005731	GTPase NRas	4893	reviewed	Enzyme modulator
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P01270	BXGT005746	Parathyroid hormone	5741	reviewed
P01911	BXGT005816	HLA class II histocompatibility antigen, DRB1-15 beta chain	3123	reviewed	Immune response
P02458	BXGT005879	Collagen alpha-1(II) chain	1280	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P02765	BXGT005952	Alpha-2-HS-glycoprotein	197	reviewed	Enzyme modulator
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P06213	BXGT006425	Insulin receptor	3643	reviewed	Kinase
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P10301	BXGT007556	Ras-related protein R-Ras	6237	reviewed	Enzyme modulator
P10644	BXGT007597	cAMP-dependent protein kinase type I-alpha regulatory subunit	5573	reviewed
P11166	BXGT007661	Solute carrier family 2, facilitated glucose transporter member 1	6513	reviewed	Transporter
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P18564	BXGT008414	Integrin beta-6	3694	reviewed	Receptor
P21333	BXGT008638	Filamin-A	2316	reviewed
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P22607	BXGT008784	Fibroblast growth factor receptor 3	2261	reviewed	Kinase
P25440	BXGT009044	Bromodomain-containing protein 2	6046	reviewed	Epigenetic regulator
P27635	BXGT009194	60S ribosomal protein L10	6134	reviewed	Nucleic acid binding
P27986	BXGT009216	Phosphatidylinositol 3-kinase regulatory subunit alpha	5295	reviewed	Kinase
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P30153	BXGT009409	Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform	5518	reviewed	Enzyme
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P35052	BXGT009788	Glypican-1	2817	reviewed
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P36969	BXGT009949	Phospholipid hydroperoxide glutathione peroxidase	2879	reviewed	Enzyme
P37173	BXGT009970	TGF-beta receptor type-2	7048	reviewed	Kinase
P41229	BXGT010239	Lysine-specific demethylase 5C	8242	reviewed
P42336	BXGT010302	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	5290	reviewed	Kinase
P43026	BXGT010351	Growth/differentiation factor 5	8200	reviewed	Signaling
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P43405	BXGT010386	Tyrosine-protein kinase SYK	6850	reviewed	Kinase
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P46531	BXGT010526	Neurogenic locus notch homolog protein 1	4851	reviewed
P49585	BXGT010712	Choline-phosphate cytidylyltransferase A	5130	reviewed
P49747	BXGT010732	Cartilage oligomeric matrix protein	1311	reviewed
P49917	BXGT010765	DNA ligase 4	3981	reviewed
P51531	BXGT010851	Probable global transcription activator SNF2L2	6595	reviewed	Epigenetic regulator
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P52952	BXGT010966	Homeobox protein Nkx-2.5	1482	reviewed	Transcription factor
P56524	BXGT011176	Histone deacetylase 4	9759	reviewed	Epigenetic regulator
P58335	BXGT011233	Anthrax toxin receptor 2	118429	reviewed	Receptor
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P63092	BXGT011495	Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	2778	reviewed
P68400	BXGT011599	Casein kinase II subunit alpha	1457	reviewed	Kinase
P78504	BXGT011844	Protein jagged-1	182	reviewed
Q01974	BXGT012628	Tyrosine-protein kinase transmembrane receptor ROR2	4920	reviewed	Kinase
Q02750	BXGT012662	Dual specificity mitogen-activated protein kinase kinase 1	5604	reviewed	Kinase
Q03431	BXGT012714	Parathyroid hormone/parathyroid hormone-related peptide receptor	5745	reviewed	G-protein coupled receptor
Q03692	BXGT012735	Collagen alpha-1(X) chain	1300	reviewed	Extracellular structure
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q06124	BXGT012856	Tyrosine-protein phosphatase non-receptor type 11	5781	reviewed
Q07889	BXGT012946	Son of sevenless homolog 1	6654	reviewed	Enzyme modulator
Q08209	BXGT012968	Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform	5530	reviewed
Q08499	BXGT012988	cAMP-specific 3',5'-cyclic phosphodiesterase 4D	5144	reviewed
Q13303	BXGT013336	Voltage-gated potassium channel subunit beta-2	8514	reviewed	Ion channel
Q13485	BXGT013363	Mothers against decapentaplegic homolog 4	4089	reviewed	Transcription factor
Q13510	BXGT013367	Acid ceramidase	427	reviewed	Enzyme
Q13555	BXGT013375	Calcium/calmodulin-dependent protein kinase type II subunit gamma	818	reviewed	Kinase
Q14332	BXGT013462	Frizzled-2	2535	reviewed	G-protein coupled receptor
Q14432	BXGT013469	cGMP-inhibited 3',5'-cyclic phosphodiesterase A	5139	reviewed
Q14623	BXGT013490	Indian hedgehog protein	3549	reviewed
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q2M1P5	BXGT014129	Kinesin-like protein KIF7	374654	reviewed
Q6UX04	BXGT016571	Spliceosome-associated protein CWC27 homolog	10283	reviewed	Enzyme
Q8NCM8	BXGT018548	Cytoplasmic dynein 2 heavy chain 1	79659	reviewed	Enzyme
Q8WVQ1	BXGT018996	Soluble calcium-activated nucleotidase 1	124583	reviewed
Q8WWY3	BXGT019006	U4/U6 small nuclear ribonucleoprotein Prp31	26121	reviewed	Nucleic acid binding
Q92794	BXGT019375	Histone acetyltransferase KAT6A	7994	reviewed	Enzyme
Q92953	BXGT019398	Potassium voltage-gated channel subfamily B member 2	9312	reviewed	Ion channel
Q92963	BXGT019401	GTP-binding protein Rit1	6016	reviewed	Enzyme modulator
Q96P20	BXGT019704	NACHT, LRR and PYD domains-containing protein 3	114548	reviewed
Q96PY6	BXGT019712	Serine/threonine-protein kinase Nek1	4750	reviewed	Kinase
Q99497	BXGT019926	Protein/nucleic acid deglycase DJ-1	11315	reviewed	Enzyme
Q9BY41	BXGT020180	Histone deacetylase 8	55869	reviewed	Epigenetic regulator
Q9C0B1	BXGT020209	Alpha-ketoglutarate-dependent dioxygenase FTO	79068	reviewed
Q9H0F7	BXGT020435	ADP-ribosylation factor-like protein 6	84100	reviewed
Q9H9B1	BXGT020501	Histone-lysine N-methyltransferase EHMT1	79813	reviewed	Epigenetic regulator
Q9HBA0	BXGT020516	Transient receptor potential cation channel subfamily V member 4	59341	reviewed	Ion channel
Q9NRX4	BXGT021198	14 kDa phosphohistidine phosphatase	29085	reviewed
Q9NS87	BXGT021201	Kinesin-like protein KIF15	56992	reviewed	Cellular structure
Q9NSE4	BXGT021207	Isoleucine--tRNA ligase, mitochondrial	55699	reviewed	Enzyme
Q9NYG8	BXGT021257	Potassium channel subfamily K member 4	50801	reviewed	Ion channel
Q9NZJ4	BXGT021274	Sacsin	26278	reviewed
Q9NZJ5	BXGT021275	Eukaryotic translation initiation factor 2-alpha kinase 3	9451	reviewed	Kinase
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UM07	BXGT021771	Protein-arginine deiminase type-4	23569	reviewed
Q9UMX1	BXGT021778	Suppressor of fused homolog	51684	reviewed
Q9UPZ9	BXGT021804	Serine/threonine-protein kinase ICK	22858	reviewed	Kinase
Q9Y2K2	BXGT022238	Serine/threonine-protein kinase SIK3	23387	reviewed	Kinase
Q9Y4D7	BXGT022275	Plexin-D1	23129	reviewed
Q9Y5W7	BXGT022783	Sorting nexin-14	57231	reviewed	Enzyme modulator
Q96C86	BXGT022803	m7GpppX diphosphatase	28960	reviewed	Enzyme
Q92785	BXGT023424	Zinc finger protein ubi-d4	5977	reviewed	Enzyme
P08123	BXGT024477	Collagen alpha-2(I) chain	1278	reviewed
Q13635	BXGT024910	Protein patched homolog 1	5727	reviewed
Q9UQE7	BXGT025899	Structural maintenance of chromosomes protein 3	9126	reviewed
P07320	BXGT026150	Gamma-crystallin D	1421	reviewed

The disease-related compounds

Compounds

BXGC Id	Compound Name	Structure	Molecular Weight	Number of targets^{?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease}

The disease-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compounds in food^{?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease}