adisease

Showing entry for Long narrow head

General Disease Information
BXGD Id	BXGD004450
Disease Name	Long narrow head
Disease CUI Id	C0221358
MeSH Codes
Disease Class Name
Semantic Type	Congenital Abnormality
Human Phenotype Ontology Id	HP:0000152 HP:0000924
Human Phenotype Ontology Term	Abnormality of head or neck; 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
O15357	BXGT004156	Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2	3636	reviewed
O43929	BXGT004638	Origin recognition complex subunit 4	5000	reviewed	Nucleic acid binding
O75147	BXGT005102	Obscurin-like protein 1	23363	reviewed
O96028	BXGT005417	Histone-lysine N-methyltransferase NSD2	7468	reviewed	Epigenetic regulator
P04049	BXGT006133	RAF proto-oncogene serine/threonine-protein kinase	5894	reviewed	Kinase
P05186	BXGT006338	Alkaline phosphatase, tissue-nonspecific isozyme	249	reviewed	Enzyme
P07510	BXGT006631	Acetylcholine receptor subunit gamma	1146	reviewed	Ion channel
P11473	BXGT007709	Vitamin D3 receptor	7421	reviewed	Nuclear receptor
P15056	BXGT008075	Serine/threonine-protein kinase B-raf	673	reviewed	Kinase
P15848	BXGT008162	Arylsulfatase B	411	reviewed
P21802	BXGT008691	Fibroblast growth factor receptor 2	2263	reviewed	Kinase
P21817	BXGT008693	Ryanodine receptor 1	6261	reviewed	Ion channel
P22304	BXGT008752	Iduronate 2-sulfatase	3423	reviewed
P22314	BXGT008755	Ubiquitin-like modifier-activating enzyme 1	7317	reviewed	Enzyme
P27635	BXGT009194	60S ribosomal protein L10	6134	reviewed	Nucleic acid binding
P31749	BXGT009574	RAC-alpha serine/threonine-protein kinase	207	reviewed	Kinase
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P38398	BXGT010037	Breast cancer type 1 susceptibility protein	672	reviewed	Enzyme
P42345	BXGT010304	Serine/threonine-protein kinase mTOR	2475	reviewed	Kinase
P42356	BXGT010305	Phosphatidylinositol 4-kinase alpha	5297	reviewed	Kinase
P46100	BXGT010508	Transcriptional regulator ATRX	546	reviewed
P48067	BXGT010619	Sodium- and chloride-dependent glycine transporter 1	6536	reviewed	Transporter
P50542	BXGT010808	Peroxisomal targeting signal 1 receptor	5830	reviewed	Transporter
P51812	BXGT010893	Ribosomal protein S6 kinase alpha-3	6197	reviewed	Kinase
P52952	BXGT010966	Homeobox protein Nkx-2.5	1482	reviewed	Transcription factor
P54132	BXGT011032	Bloom syndrome protein	641	reviewed
P60484	BXGT011307	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	5728	reviewed	Enzyme
P60891	BXGT011337	Ribose-phosphate pyrophosphokinase 1	5631	reviewed	Kinase
P61978	BXGT011399	Heterogeneous nuclear ribonucleoprotein K	3190	reviewed	Enzyme
P78504	BXGT011844	Protein jagged-1	182	reviewed
Q02809	BXGT012674	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	5351	reviewed	Enzyme
Q03164	BXGT012700	Histone-lysine N-methyltransferase 2A	4297	reviewed
Q04721	BXGT012777	Neurogenic locus notch homolog protein 2	4853	reviewed
Q06609	BXGT012884	DNA repair protein RAD51 homolog 1	5888	reviewed
Q07837	BXGT012943	Neutral and basic amino acid transport protein rBAT	6519	reviewed	Transporter
Q14004	BXGT013435	Cyclin-dependent kinase 13	8621	reviewed	Kinase
Q14204	BXGT013456	Cytoplasmic dynein 1 heavy chain 1	1778	reviewed	Enzyme
Q14683	BXGT013500	Structural maintenance of chromosomes protein 1A	8243	reviewed
Q6PCD5	BXGT016464	E3 ubiquitin-protein ligase RFWD3	55159	reviewed	Enzyme
Q86YC2	BXGT017633	Partner and localizer of BRCA2	79728	reviewed
Q8IYD8	BXGT018367	Fanconi anemia group M protein	57697	reviewed	Enzyme
Q96J02	BXGT019679	E3 ubiquitin-protein ligase Itchy homolog	83737	reviewed	Enzyme
Q9BYW2	BXGT020192	Histone-lysine N-methyltransferase SETD2	29072	reviewed	Epigenetic regulator
Q9H4W6	BXGT020478	Transcription factor COE3	253738	reviewed
Q9NPC2	BXGT021150	Potassium channel subfamily K member 9	51305	reviewed	Ion channel
Q9NPD8	BXGT021152	Ubiquitin-conjugating enzyme E2 T	29089	reviewed
Q9NPI8	BXGT021161	Fanconi anemia group F protein	2188	reviewed
Q9NW38	BXGT021230	E3 ubiquitin-protein ligase FANCL	55120	reviewed	Enzyme
Q9UGL1	BXGT021685	Lysine-specific demethylase 5B	10765	reviewed	Epigenetic regulator
Q9UI95	BXGT021714	Mitotic spindle assembly checkpoint protein MAD2B	10459	reviewed
Q9UKM7	BXGT021747	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	11253	reviewed	Chaperone
Q9UM47	BXGT021772	Neurogenic locus notch homolog protein 3	4854	reviewed
Q96L73	BXGT024676	Histone-lysine N-methyltransferase, H3 lysine-36 specific	64324	reviewed	Epigenetic regulator
Q96DA2	BXGT025522	Ras-related protein Rab-39B	116442	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}