PedAM

Pediatric Disease Annotations & Medicines


	keloids

Disease ID	1320
Disease	keloids
Definition	A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.
Synonym	cheloid cheloid of skin cheloids keloid keloid (morphologic abnormality) keloid [disease/finding] keloid cicatrix keloid of skin keloid scar keloid scar (disorder) keloid scar of skin keloid scarring keloid scars keloid skin keloid skin disorder keloids scars keloids skin scar keloid
UMLS	C0022548
MeSH	D007627
SNOMED-CT	SNOMEDCT_US_2016_09_01:33659008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0035934 \| rubinstein-taybi syndrome \| 1 C0442874 \| neuropathy \| 1 C0019360 \| herpes zoster \| 1 C0020538 \| high blood pressure \| 1 C0011644 \| scleroderma \| 1 C0006142 \| breast cancer \| 1 C0023895 \| liver disease \| 1 C0019360 \| zoster \| 1 C0020538 \| hypertension \| 1 C0011603 \| inflammation of the skin \| 1 C0029443 \| osteomyelitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:35) COL1A1 \| 1277 \| CTD_human FGG \| 2266 \| CTD_human TPM1 \| 7168 \| CTD_human COL3A1 \| 1281 \| CTD_human ASPN \| 54829 \| CTD_human ALB \| 213 \| CTD_human FTL \| 2512 \| CTD_human SERPINF1 \| 5176 \| CTD_human TAGLN \| 6876 \| CTD_human CRABP1 \| 1381 \| CTD_human SFN \| 2810 \| CTD_human PRDX2 \| 7001 \| CTD_human S100A4 \| 6275 \| CTD_human ACTRT2 \| 140625 \| CTD_human MIF \| 4282 \| CTD_human COL5A1 \| 1289 \| CTD_human FTH1 \| 2495 \| CTD_human FOXL2 \| 668 \| CTD_human HBD \| 3045 \| CTD_human SERPINB5 \| 5268 \| CTD_human S100A10 \| 6281 \| CTD_human MYL6B \| 140465 \| CTD_human NEDD4 \| 4734 \| CTD_human;GWASCAT RAN \| 5901 \| CTD_human PRDX1 \| 5052 \| CTD_human CLIC1 \| 1192 \| CTD_human MYDGF \| 56005 \| CTD_human S100A9 \| 6280 \| CTD_human CAPG \| 822 \| CTD_human ARHGDIA \| 396 \| CTD_human LGALS1 \| 3956 \| CTD_human TPSB2 \| 64499 \| CTD_human PFN1 \| 5216 \| CTD_human S100A8 \| 6279 \| CTD_human EIF5A \| 1984 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 11221 \| DUSP10 \| infer 668 \| FOXL2 \| infer 3373 \| HYAL1 \| infer 4734 \| NEDD4 \| infer 7157 \| TP53 \| infer 3105 \| HLA-A \| infer 3106 \| HLA-B \| infer 3107 \| HLA-C \| infer 3117 \| HLA-DQA1 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 7043 \| TGFB3 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1320
Disease	keloids
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0010562 \| Keloids
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0012531 \| Pain \| 3 HP:0000822 \| Hypertension \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0000989 \| pruritis \| 1 HP:0002527 \| Falls \| 1 HP:0100699 \| Scarring \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	1320
Disease	keloids
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	22843046	7157	TP53	umls:C0022548	BeFree	Meta-analysis demonstrates association between Arg72Pro polymorphism in the P53 gene and susceptibility to keloids in the Chinese population.	0.009087065	2012	TP53	17	7676154	G	T,C
rs11130248	20711176	3373	HYAL1	umls:C0022548	GAD	[A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.]	0.002367032	2010	NA	3	50314769	A	G
rs11540654	22843046	7157	TP53	umls:C0022548	BeFree	Meta-analysis demonstrates association between Arg72Pro polymorphism in the P53 gene and susceptibility to keloids in the Chinese population.	0.009087065	2012	TP53	17	7676040	C	T,G,A
rs141156594	25305228	23410	SIRT3	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	RTTN	18	70196537	A	C,G
rs141156594	25305228	4626	MYH8	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	RTTN	18	70196537	A	C,G
rs141156594	25305228	25914	RTTN	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	RTTN	18	70196537	A	C,G
rs141156594	25305228	135458	HUS1B	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	RTTN	18	70196537	A	C,G
rs1442440	23667473	4734	NEDD4	umls:C0022548	BeFree	We found three SNPs in two regions showed significant association with keloid in the Chinese Han population: 1q41 (rs873549, P = 3.03×10(-33), OR = 2.05, 95% CI: 1.82-2.31 and rs1442440, P = 9.85×10(-18), OR = 0.56, 95% CI: 0.49-0.64, respectively) and 15q21.3 (rs2271289 located in NEDD4, P = 1.02×10(-11), OR = 0.66, 95% CI: 0.58-0.74).	0.242909916	2013	NA	1	222066192	T	C
rs151091483	25305228	23410	SIRT3	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	MYH8;MYHAS	17	10409361	A	G,T
rs151091483	25305228	135458	HUS1B	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	MYH8;MYHAS	17	10409361	A	G,T
rs151091483	25305228	25914	RTTN	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	MYH8;MYHAS	17	10409361	A	G,T
rs151091483	25305228	4626	MYH8	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	MYH8;MYHAS	17	10409361	A	G,T
rs1511412	20711176	401089	FOXL2NB	umls:C0022548	GAD	[A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.]	0.002367032	2010	NA	3	138994862	A	G
rs181924090	25305228	4626	MYH8	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	SIRT3	11	218874	C	G,T
rs181924090	25305228	23410	SIRT3	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	SIRT3	11	218874	C	G,T
rs181924090	25305228	25914	RTTN	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	SIRT3	11	218874	C	G,T
rs181924090	25305228	135458	HUS1B	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	SIRT3	11	218874	C	G,T
rs183178644	25305228	4626	MYH8	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	EXOC2;HUS1B	6	656415	C	G
rs183178644	25305228	25914	RTTN	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	EXOC2;HUS1B	6	656415	C	G
rs183178644	25305228	135458	HUS1B	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	EXOC2;HUS1B	6	656415	C	G
rs183178644	25305228	23410	SIRT3	umls:C0022548	BeFree	rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.	0.000271442	2015	EXOC2;HUS1B	6	656415	C	G
rs2271289	23667473	4734	NEDD4	umls:C0022548	BeFree	We found three SNPs in two regions showed significant association with keloid in the Chinese Han population: 1q41 (rs873549, P = 3.03×10(-33), OR = 2.05, 95% CI: 1.82-2.31 and rs1442440, P = 9.85×10(-18), OR = 0.56, 95% CI: 0.49-0.64, respectively) and 15q21.3 (rs2271289 located in NEDD4, P = 1.02×10(-11), OR = 0.66, 95% CI: 0.58-0.74).	0.242909916	2013	NEDD4	15	55924595	C	T
rs8032158	20711176	4734	NEDD4	umls:C0022548	GWASCAT	A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.	0.242909916	2010	NEDD4	15	55902679	T	C
rs8032158	20711176	4734	NEDD4	umls:C0022548	GAD	[A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.]	0.242909916	2010	NEDD4	15	55902679	T	C
rs873549	23667473	4734	NEDD4	umls:C0022548	BeFree	We found three SNPs in two regions showed significant association with keloid in the Chinese Han population: 1q41 (rs873549, P = 3.03×10(-33), OR = 2.05, 95% CI: 1.82-2.31 and rs1442440, P = 9.85×10(-18), OR = 0.56, 95% CI: 0.49-0.64, respectively) and 15q21.3 (rs2271289 located in NEDD4, P = 1.02×10(-11), OR = 0.66, 95% CI: 0.58-0.74).	0.242909916	2013	NA	1	222098425	C	T
rs873549	20711176	11221	DUSP10	umls:C0022548	GAD	[A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.]	0.002367032	2010	NA	1	222098425	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:4)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	222271767	rs873549	C	T	rs873549	20711176	6.00E-23	NA	1.77	[1.58-1.99]	178 Japanese cases; 906 Japanese controls	Japanese(1084)	ALL(1084)	ASN(1084)	ALL(1084)	Keloid	HPOID:0010562	Keloids	DOID:854	collagen disease	D007627	Keloid	EFOID:0004212	keloid	Connective tissue disease	rs873549-C	Research Support, Non-U.S. Gov't	A	NA
3	50352200	rs11130248	A	G	rs11130248	20711176	5.00E-07	NA	1.34	[1.19-1.49]	178 Japanese cases; 906 Japanese controls	Japanese(1084)	ALL(1084)	ASN(1084)	ALL(1084)	Keloid	HPOID:0010562	Keloids	DOID:854	collagen disease	D007627	Keloid	EFOID:0004212	keloid	Connective tissue disease	NA	Research Support, Non-U.S. Gov't	G	NA
3	138713704	rs1511412	A	G	rs1511412	20711176	2.00E-13	NA	1.87	[1.58-2.21]	178 Japanese cases; 906 Japanese controls	Japanese(1084)	ALL(1084)	ASN(1084)	ALL(1084)	Keloid	HPOID:0010562	Keloids	DOID:854	collagen disease	D007627	Keloid	EFOID:0004212	keloid	Connective tissue disease	rs1511412-A	Research Support, Non-U.S. Gov't	G	NA
15	56194877	rs8032158	T	C	rs8032158	20711176	6.00E-13	NA	1.51	[1.35-1.69]	178 Japanese cases; 906 Japanese controls	Japanese(1084)	ALL(1084)	ASN(1084)	ALL(1084)	Keloid	HPOID:0010562	Keloids	DOID:854	collagen disease	D007627	Keloid	EFOID:0004212	keloid	Connective tissue disease	rs8032158-C	Research Support, Non-U.S. Gov't	T	NEDD4

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)