PedAM

Pediatric Disease Annotations & Medicines


	osteogenesis imperfecta

Disease ID	127
Disease	osteogenesis imperfecta
Definition	COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
Synonym	brittle bone disease brittle bone syndrome fragilitas ossium oi - osteogenesis imperfecta ossiums, fragilitas osteogenesis imperfecta (disorder) osteogenesis imperfecta [disease/finding] osteogenesis imperfecta nos osteogenesis imperfecta nos (disorder) osteogenesis imperfecta, nos osteopsathyrosis osteopsathyrosis (disorder) vrolik's disease
Orphanet	ORPHANET:666
DOID	DOID:12347
ICD10	ICD10CM:Q78.0
UMLS	C0029434
MeSH	D010013
SNOMED-CT	SNOMEDCT_US_2016_09_01:78314001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:34) C0011436 \| dentinogenesis imperfecta \| 7 C0029456 \| osteoporosis \| 4 C0018799 \| heart disease \| 3 C0036439 \| scoliosis \| 2 C0018824 \| valvular heart disease \| 2 C0038016 \| spondylolisthesis \| 1 C0010495 \| cutis laxa \| 1 C0003493 \| aortic disease \| 1 C0002895 \| sickle cell disease \| 1 C0022821 \| kyphosis \| 1 C0007222 \| cardiovascular disease \| 1 C0029408 \| osteoarthritis \| 1 C0042870 \| vitamin d defic \| 1 C0027051 \| myocardial infarct \| 1 C0008479 \| chondrosarcoma \| 1 C0021845 \| bowel perforation \| 1 C0042373 \| vascular disease \| 1 C0035305 \| retinal detachment \| 1 C0024899 \| mastocytosis \| 1 C0005940 \| bone disease \| 1 C0027051 \| myocardial infarction \| 1 C0155626 \| acute myocardial infarction \| 1 C0010051 \| coronary artery aneurysm \| 1 C0917996 \| cerebral aneurysm \| 1 C0020538 \| hypertension \| 1 C0007570 \| celiac disease \| 1 C0007789 \| cerebral palsy \| 1 C0740394 \| hyperuricemia \| 1 C0002766 \| analgesia \| 1 C0003493 \| aortic diseases \| 1 C0003504 \| aortic regurgitation \| 1 C0042870 \| vitamin d deficiency \| 1 C0034194 \| pyloric stenosis \| 1 C0006142 \| breast cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:21) CREB3L1 \| 90993 \| UniProtKB-KW COL1A2 \| 1278 \| CLINVAR;UniProtKB-KW;GHR COL1A1 \| 1277 \| CLINVAR;CTD_human;UniProtKB-KW;GHR FKBP10 \| 60681 \| UniProtKB-KW IFITM5 \| 387733 \| UniProtKB-KW LRP5 \| 4041 \| UniProtKB-KW ANO5 \| 203859 \| UniProtKB-KW P4HB \| 5034 \| UniProtKB-KW SERPINF1 \| 5176 \| UniProtKB-KW SPG7 \| 6687 \| UniProtKB-KW SEC24D \| 9871 \| UniProtKB-KW PLOD2 \| 5352 \| UniProtKB-KW CRTAP \| 10491 \| CTD_human;UniProtKB-KW;GHR SPARC \| 6678 \| CTD_human;UniProtKB-KW SP7 \| 121340 \| UniProtKB-KW BMP1 \| 649 \| UniProtKB-KW SERPINH1 \| 871 \| UniProtKB-KW PPIB \| 5479 \| UniProtKB-KW TMEM38B \| 55151 \| UniProtKB-KW WNT1 \| 7471 \| UniProtKB-KW P3H1 \| 64175 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1277 \| COL1A1 \| infer 1278 \| COL1A2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:166) 1634 \| DCN \| DISEASES 7092 \| TLL1 \| DISEASES 79041 \| TMEM38A \| DISEASES 5351 \| PLOD1 \| DISEASES 51310 \| SLC22A17 \| DISEASES 5711 \| PSMD5 \| DISEASES 266 \| AMELY \| DISEASES 54 \| ACP5 \| DISEASES 55512 \| SMPD3 \| DISEASES 1311 \| COMP \| DISEASES 1749 \| DLX5 \| DISEASES 55033 \| FKBP14 \| DISEASES 30851 \| TAX1BP3 \| DISEASES 1277 \| COL1A1 \| DISEASES 3381 \| IBSP \| DISEASES 6678 \| SPARC \| DISEASES 4488 \| MSX2 \| DISEASES 8600 \| TNFSF11 \| DISEASES 1748 \| DLX4 \| DISEASES 5184 \| PEPD \| DISEASES 6662 \| SOX9 \| DISEASES 2678 \| GGT1 \| DISEASES 1618 \| DAZL \| DISEASES 10343 \| PKDREJ \| DISEASES 5176 \| SERPINF1 \| DISEASES 91107 \| TRIM47 \| DISEASES 23608 \| MKRN1 \| DISEASES 2660 \| MSTN \| DISEASES 4040 \| LRP6 \| DISEASES 10847 \| SRCAP \| DISEASES 90 \| ACVR1 \| DISEASES 11107 \| PRDM5 \| DISEASES 51726 \| DNAJB11 \| DISEASES 7982 \| ST7 \| DISEASES 2588 \| GALNS \| DISEASES 5636 \| PRPSAP2 \| DISEASES 1513 \| CTSK \| DISEASES 1404 \| HAPLN1 \| DISEASES 9871 \| SEC24D \| DISEASES 51594 \| NBAS \| DISEASES 5741 \| PTH \| DISEASES 1834 \| DSPP \| DISEASES 651 \| BMP3 \| DISEASES 9453 \| GGPS1 \| DISEASES 170692 \| ADAMTS18 \| DISEASES 5352 \| PLOD2 \| DISEASES 5903 \| RANBP2 \| DISEASES 56172 \| ANKH \| DISEASES 89780 \| WNT3A \| DISEASES 1836 \| SLC26A2 \| DISEASES 7471 \| WNT1 \| DISEASES 4041 \| LRP5 \| DISEASES 3549 \| IHH \| DISEASES 5500 \| PPP1CB \| DISEASES 10085 \| EDIL3 \| DISEASES 6100 \| RP9 \| DISEASES 1278 \| COL1A2 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 115825 \| WDFY2 \| DISEASES 5913 \| RAPSN \| DISEASES 79158 \| GNPTAB \| DISEASES 5479 \| PPIB \| DISEASES 55957 \| LIN37 \| DISEASES 50964 \| SOST \| DISEASES 8313 \| AXIN2 \| DISEASES 3479 \| IGF1 \| DISEASES 121340 \| SP7 \| DISEASES 7804 \| LRP8 \| DISEASES 5308 \| PITX2 \| DISEASES 1281 \| COL3A1 \| DISEASES 9482 \| STX8 \| DISEASES 649 \| BMP1 \| DISEASES 10484 \| SEC23A \| DISEASES 9986 \| RCE1 \| DISEASES 30008 \| EFEMP2 \| DISEASES 27243 \| CHMP2A \| DISEASES 2286 \| FKBP2 \| DISEASES 203859 \| ANO5 \| DISEASES 60681 \| FKBP10 \| DISEASES 5745 \| PTH1R \| DISEASES 10491 \| CRTAP \| DISEASES 633 \| BGN \| DISEASES 5034 \| P4HB \| DISEASES 796 \| CALCA \| DISEASES 1287 \| COL4A5 \| DISEASES 2689 \| GH2 \| DISEASES 124626 \| ZPBP2 \| DISEASES 5521 \| PPP2R2B \| DISEASES 7360 \| UGP2 \| DISEASES 2261 \| FGFR3 \| DISEASES 93 \| ACVR2B \| DISEASES 342977 \| NANOS3 \| DISEASES 8785 \| MATN4 \| DISEASES 23463 \| ICMT \| DISEASES 5549 \| PRELP \| DISEASES 8481 \| OFD1 \| DISEASES 285489 \| DOK7 \| DISEASES 1499 \| CTNNB1 \| DISEASES 889 \| KRIT1 \| DISEASES 8326 \| FZD9 \| DISEASES 797 \| CALCB \| DISEASES 10656 \| KHDRBS3 \| DISEASES 5358 \| PLS3 \| DISEASES 2224 \| FDPS \| DISEASES 871 \| SERPINH1 \| DISEASES 8913 \| CACNA1G \| DISEASES 8076 \| MFAP5 \| DISEASES 56955 \| MEPE \| DISEASES 1733 \| DIO1 \| DISEASES 5083 \| PAX9 \| DISEASES 92344 \| GORAB \| DISEASES 55811 \| ADCY10 \| DISEASES 6708 \| SPTA1 \| DISEASES 632 \| BGLAP \| DISEASES 7059 \| THBS3 \| DISEASES 7286 \| TUFT1 \| DISEASES 79955 \| PDZD7 \| DISEASES 860 \| RUNX2 \| DISEASES 1289 \| COL5A1 \| DISEASES 114034 \| TOE1 \| DISEASES 80114 \| BICC1 \| DISEASES 22943 \| DKK1 \| DISEASES 57134 \| MAN1C1 \| DISEASES 55151 \| TMEM38B \| DISEASES 249 \| ALPL \| DISEASES 1290 \| COL5A2 \| DISEASES 30813 \| VSX1 \| DISEASES 10537 \| UBD \| DISEASES 650 \| BMP2 \| DISEASES 5251 \| PHEX \| DISEASES 51360 \| MBTPS2 \| DISEASES 5393 \| EXOSC9 \| DISEASES 1280 \| COL2A1 \| DISEASES 265 \| AMELX \| DISEASES 1645 \| AKR1C1 \| DISEASES 3486 \| IGFBP3 \| DISEASES 387733 \| IFITM5 \| DISEASES 4487 \| MSX1 \| DISEASES 83696 \| TRAPPC9 \| DISEASES 22900 \| CARD8 \| DISEASES 196410 \| METTL7B \| DISEASES 6696 \| SPP1 \| DISEASES 7227 \| TRPS1 \| DISEASES 5744 \| PTHLH \| DISEASES 79659 \| DYNC2H1 \| DISEASES 344022 \| NOTO \| DISEASES 728441 \| GGT2 \| DISEASES 1747 \| DLX3 \| DISEASES 197 \| AHSG \| DISEASES 25801 \| GCA \| DISEASES 26013 \| L3MBTL1 \| DISEASES 8910 \| SGCE \| DISEASES 84627 \| ZNF469 \| DISEASES 64084 \| CLSTN2 \| DISEASES 162466 \| PHOSPHO1 \| DISEASES 54900 \| LAX1 \| DISEASES 7148 \| TNXB \| DISEASES 51661 \| FKBP7 \| DISEASES 5635 \| PRPSAP1 \| DISEASES 1750 \| DLX6 \| DISEASES 149466 \| C1orf210 \| DISEASES 3347 \| HTN3 \| DISEASES 90993 \| CREB3L1 \| DISEASES 23131 \| GPATCH8 \| DISEASES 79104 \| MEG8 \| DISEASES 6080 \| SNORA73A \| DISEASES
Locus	(Waiting for update.)

Disease ID	127
Disease	osteogenesis imperfecta
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:66) HP:0002808 \| Kyphosis HP:0002823 \| Abnormality of the femur HP:0003103 \| Abnormal cortical bone morphology HP:0004586 \| Biconcave vertebral bodies HP:0011073 \| Abnormality of dental color HP:0002983 \| Micromelia HP:0003312 \| Abnormal form of the vertebral bodies HP:0000164 \| Abnormality of the teeth HP:0000774 \| Narrow chest HP:0000670 \| Carious teeth HP:0005692 \| Joint hyperflexibility HP:0006487 \| Bowing of the long bones HP:0000592 \| Blue sclerae HP:0004322 \| Short stature HP:0000347 \| Micrognathia HP:0000501 \| Glaucoma HP:0000767 \| Pectus excavatum HP:0003100 \| Slender long bone HP:0007957 \| Corneal opacity HP:0000682 \| Abnormality of dental enamel HP:0000365 \| Hearing impairment HP:0000239 \| Large fontanelles HP:0000505 \| Visual impairment HP:0000939 \| Osteoporosis HP:0001873 \| Thrombocytopenia HP:0005019 \| Diaphyseal thickening HP:0002564 \| Malformation of the heart and great vessels HP:0000269 \| Prominent occiput HP:0000256 \| Macrocephaly HP:0000768 \| Pectus carinatum HP:0000975 \| Hyperhidrosis HP:0000938 \| Osteopenia HP:0002645 \| Wormian bones HP:0002857 \| Genu valgum HP:0002992 \| Abnormality of the tibia HP:0004306 \| Abnormality of the endocardium HP:0000023 \| Inguinal hernia HP:0004331 \| Decreased skull ossification HP:0000444 \| Convex nasal ridge HP:0002757 \| Recurrent fractures HP:0002980 \| Femoral bowing HP:0001511 \| Intrauterine growth retardation HP:0100761 \| Visceral angiomatosis HP:0002650 \| Scoliosis HP:0000883 \| Thin ribs HP:0001537 \| Umbilical hernia HP:0000772 \| Abnormality of the ribs HP:0000944 \| Abnormality of the metaphyses HP:0000248 \| Brachycephaly HP:0001288 \| Gait disturbance HP:0000325 \| Triangular face HP:0003179 \| Protrusio acetabuli HP:0003272 \| Abnormality of the hip bone HP:0000703 \| Dentinogenesis imperfecta NULL \| Bone deformity NULL \| Hypermobile joints HP:0100959 \| Dense metaphyseal bands NULL \| Vertebral anomalies NULL \| vertebral fracture HP:0000938 \| Osteopenia HP:0000703 \| Dentinogenesis imperfecta HP:0000592 \| Blue sclerae HP:0000365 \| Hearing loss NULL \| Walking with assistance HP:0000325 \| Triangular face NULL \| popcorn calcif
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:41) HP:0000703 \| Dentinogenesis imperfecta \| 7 HP:0000939 \| Osteoporosis \| 4 HP:0002617 \| Aneurysmal dilatation \| 3 HP:0002650 \| Scoliosis \| 2 HP:0002814 \| Abnormality of the leg \| 2 HP:0000572 \| Visual loss \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0000541 \| Detached retina \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0002757 \| Multiple fractures \| 1 HP:0008443 \| Spinal deformities \| 1 HP:0008454 \| Rounded lower back \| 1 HP:0002021 \| Pyloric stenosis \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0002659 \| Increased tendency to fractures \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0002803 \| Congenital joint contractures \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0005619 \| Thoracolumbar kyphosis \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0100495 \| Mastocytosis \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0002608 \| Celiac disease \| 1 HP:0003302 \| Spondylolithesis \| 1 HP:0000973 \| Dermatomegaly \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0002645 \| Extra bones within cranial sutures \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0000822 \| Hypertension \| 1 HP:0001385 \| Congenital hip dysplasia \| 1 HP:0002953 \| Vertebral compression fractures \| 1 HP:0002149 \| Hyperuricemia \| 1 HP:0002808 \| Gibbus deformity \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0000592 \| Bluish sclerae \| 1 HP:0002647 \| Aortic dissection \| 1

Disease ID	127
Disease	osteogenesis imperfecta
Manually Symptom	UMLS \| Name(Total Manually Symptoms:67) C2678504 \| osteoporosis C2242765 \| spondylolisthesis C2239253 \| aneurysm of sinus of valsalva C2046121 \| aortic dissection C2029884 \| hearing loss C1963229 \| retinal detachment C1963123 \| valvular heart disease C1962958 \| hematoma C1456865 \| ureteral stone C1393529 \| vascular complications C1390474 \| bone fragility C1384666 \| hearing impairment C0917996 \| cerebral aneurysms C0877045 \| atrial rupture C0740852 \| upper airway obstruction C0700208 \| scoliosis C0700109 \| rigidity C0600033 \| kyphoscoliosis C0581883 \| deafness C0542322 \| nontraumatic subdural hematoma C0494752 \| diaphragmatic hernia C0444720 \| circulatory arrest C0427008 \| stiffness C0376293 \| stigmata C0265343 \| vertebral anomalies C0264789 \| familial cardiomyopathy C0263490 \| brittle hair C0243050 \| cardiovascular abnormalities C0242084 \| ruptured cerebral aneurysm C0238621 \| aminoaciduria C0238045 \| carotid-cavernous fistula C0221002 \| primary hyperparathyroidism C0206640 \| cementifying fibroma C0152244 \| aneurysmal bone cyst C0151846 \| periosteum C0040997 \| trigeminal neuralgia C0037928 \| myelopathy C0034931 \| reflex sympathetic dystrophy syndrome C0030521 \| parathyroid tumour C0030486 \| paraplegia C0029899 \| otosclerosis C0029463 \| osteogenic sarcoma C0029166 \| oral manifestation C0026267 \| mitral valve prolapse C0026266 \| mitral insufficiency C0024591 \| malignant hyperpyrexia C0023234 \| perthes' disease C0022578 \| keratoconus C0020492 \| hyperostosis C0020443 \| hypercholesterolaemia C0020438 \| hypercalciuria C0020437 \| hypercalcaemia C0019087 \| hemorrhagic disease C0019080 \| hemorrhage C0018818 \| ventricular septal defect C0018801 \| cardiac failure C0018799 \| cardiac disease C0018777 \| conductive hearing loss C0015624 \| fanconi syndrome C0015467 \| facial neuralgia C0014122 \| infectious endocarditis C0011436 \| dentinogenesis imperfecta C0005940 \| bone disease C0005937 \| bone cysts C0005937 \| bone cyst C0003504 \| aortic regurgitation C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:16) C0011436 \| dentinogenesis imperfecta \| 7 C0029456 \| osteoporosis \| 4 C0002940 \| aneurysm \| 3 C0018824 \| valvular heart disease \| 2 C0036439 \| scoliosis \| 2 C1384666 \| hearing loss \| 1 C0345392 \| kyphoscoliosis \| 1 C0019080 \| hemorrhage \| 1 C0038016 \| spondylolisthesis \| 1 C1390474 \| bone fragility \| 1 C0003504 \| aortic regurgitation \| 1 C0029166 \| oral manifestation \| 1 C0005940 \| bone disease \| 1 C0035305 \| retinal detachment \| 1 C0243050 \| cardiovascular abnormalities \| 1 C0340643 \| aortic dissection \| 1

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

All Snps(Total Genotypes:46)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912905	1990009	1278	COL1A2	umls:C0029434	BeFree	A child with a moderately severe form of osteogenesis imperfecta was heterozygous for a G to T transition that resulted in a substitution of cysteine for glycine at position 259 in the COL1A2 gene.	0.184706362	1991	COL1A2	7	94408806	G	T
rs139388334	23381775	1277	COL1A1	umls:C0029434	BeFree	Students were provided with the sequence of the OI affected COL1A1 PCR product aligned with the normal COL1A1 sequence, allowing identification of the mutation, as the substitution of Arg for Gly(976) of the triple helical region.	0.315633557	2012	COL1A1	17	50185639	C	T
rs139446305	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94411099	G	A
rs139955975	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195937	C	T
rs144751329	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50194380	C	T
rs193922137	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195958	C	A
rs193922138	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195296	G	C
rs193922140	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50194419	C	G
rs193922141	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50194141	T	-
rs193922143	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50193003	A	-
rs193922144	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50191853	G	A
rs193922145	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50191457	G	A
rs193922147	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50190381	C	G,A
rs193922148	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50190360	A	-
rs193922149	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50190328	G	-
rs193922150	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189878	C	T
rs193922151	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189521	A	-
rs193922152	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189208	T	C
rs193922153	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50189173	G	A
rs193922154	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50199589	CT	-
rs193922155	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50199329	T	C
rs193922157	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50198459	C	T,A
rs193922158	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50197065	T	C
rs193922159	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94410478	C	A
rs193922162	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94417733	G	A
rs193922165	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94425655	G	A
rs193922166	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94427006	A	-
rs193922167	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94427643	C	-
rs193922168	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94427714	G	C
rs193922173	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94408220	G	A
rs193922175	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94409377	GTG	-
rs66612022	16705691	1278	COL1A2	umls:C0029434	BeFree	Haplotype analysis of the COL1A2 gene revealed that four probands from five independent OI probands with c.982G>A (p.Gly328Ser) had a common haplotype.	0.184706362	2006	COL1A2	7	94409768	G	A,T
rs67815019	21594610	1277	COL1A1	umls:C0029434	BeFree	We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI.	0.315633557	2011	COL1A1	17	50187041	C	T,A
rs67815019	23079818	1277	COL1A1	umls:C0029434	BeFree	Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.	0.315633557	2012	COL1A1	17	50187041	C	T,A
rs72645323	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50197027	C	T
rs72645328	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50196670	C	T
rs72645357	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50196163	C	T
rs72648320	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50195433	C	T
rs72653173	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50188765	G	A
rs72654802	21594610	1277	COL1A1	umls:C0029434	BeFree	We identified a dominant missense mutation, c.3235G>A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI.	0.315633557	2011	COL1A1	17	50188122	C	T
rs72654802	23079818	1277	COL1A1	umls:C0029434	BeFree	Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.	0.315633557	2012	COL1A1	17	50188122	C	T
rs72656387	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94409367	G	A
rs72656392	7961597	1278	COL1A2	umls:C0029434	BeFree	Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.	0.184706362	1994	COL1A2	7	94409732	G	C
rs72656392	7961597	146	ADRA1D	umls:C0029434	BeFree	Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.	0.019272373	1994	COL1A2	7	94409732	G	C
rs72658154	NA	1278	COL1A2	umls:C0029434	CLINVAR	NA	0.184706362	NA	COL1A2	7	94418518	G	A
rs72667023	NA	1277	COL1A1	umls:C0029434	CLINVAR	NA	0.315633557	NA	COL1A1	17	50198170	A	-

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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