| DE_00027 |
chrx |
857558 |
858158 |
Idiopathic short stature |
SHOX |
More details |
| DE_00038 |
chr10 |
27388383 |
27390383 |
Thrombocytopaenia 2 |
ANKRD26 |
More details |
| DE_00043 |
chr10 |
64201343 |
64202560 |
Congenital amyelinating neuropathy |
EGR2 |
More details |
| DE_00075 |
chr11 |
118890202 |
118900800 |
Sudden infant death syndrome |
SLC37A4 |
More details |
| DE_00082 |
chr11 |
2190002 |
2193400 |
Tyrosine hydroxylase deficiency |
TH |
More details |
| DE_00085 |
chr11 |
5248002 |
5248400 |
Thalassaemia |
HBB |
More details |
| DE_00086 |
chr11 |
5247402 |
5249402 |
Thalassaemia |
HBB |
More details |
| DE_00087 |
chr11 |
5247491 |
5249491 |
Thalassaemia |
HBB |
More details |
| DE_00088 |
chr11 |
5254802 |
5256800 |
Thalassaemia |
HBD |
More details |
| DE_00127 |
chr1 |
173886202 |
173887200 |
Antithrombin deficiency |
SERPINC1 |
More details |
| DE_00187 |
chr16 |
208709 |
210709 |
Thalassaemia |
HBM |
More details |
| DE_00253 |
chr2 |
175626602 |
175632200 |
Myasthenia gravis |
chrNA1 |
More details |
| DE_00320 |
chr5 |
132007802 |
132009200 |
Bronchial asthma |
IL4 |
More details |
| DE_00326 |
chr5 |
147257162 |
147259162 |
Asthma |
SCGB3A2 |
More details |
| DE_00327 |
chr5 |
156604202 |
156609777 |
Asthma |
ITK |
More details |
| DE_00368 |
chr7 |
22760602 |
22771600 |
Systemic lupus erythematosus |
IL6 |
More details |
| DE_00401 |
chrX |
70441002 |
70448800 |
Charcot-marie-tooth disease |
GJB1 |
More details |
| DE_00420 |
chr9 |
100556802 |
100557800 |
Papillary thyroid cancer |
FOXE1, PTCSC2 |
More details |
| DE_00426 |
chr10 |
64445329 |
64445644 |
Rheumatoid arthritis |
ADO |
More details |
| DE_00433 |
chr10 |
102978207 |
102980207 |
Adolescent idiopathic scoliosis |
LBX1 |
More details |
| DE_00436 |
chr16 |
31275202 |
31281400 |
Systemic lupus erythematosus |
ITGAM |
More details |
| DE_00443 |
chr1 |
192534107 |
192536107 |
IgA nephropathy |
RGS1 |
More details |
| DE_00453 |
chr9 |
100551602 |
100552200 |
Papillary thyroid cancer |
FOXE1, PTCSC2 |
More details |
| DE_00460 |
chr17 |
38028120 |
38030120 |
Asthma |
ORMDL3 |
More details |
| DE_00474 |
chr2 |
60691402 |
60718400 |
Hemoglobinopathies |
BCL11A |
More details |
| DE_00478 |
chr6 |
138229039 |
138231039 |
Systemic lupus erythematosus |
A20 |
More details |
| DE_00495 |
chr3 |
136800938 |
136802938 |
Diabetic nephropathy |
NCK1 |
More details |
| DE_00497 |
chr6 |
138229040 |
138231040 |
Systemic lupus erythematosus |
A20 |
More details |
| DE_00504 |
chr6 |
138190202 |
138205800 |
Systemic lupus erythematosus |
TNFAIP3 |
More details |
| DE_00521 |
chr3 |
24201602 |
24205000 |
The syndrome of resistance to thyroid hormone |
THRB |
More details |
| DE_00523 |
chr5 |
1285516 |
1287516 |
Papillary thyroid carcinoma |
TERT |
More details |
| DE_00530 |
chr8 |
11342973 |
11344973 |
Rheumatoid arthritis |
FAM167A |
More details |
| DE_00543 |
chr10 |
6074002 |
6104800 |
Rheumatoid arthritis |
PFKFB3 |
More details |
| DE_00554 |
chr17 |
38071002 |
38082600 |
Asthma |
ORMDL3 |
More details |
| DE_00566 |
chr7 |
128572802 |
128578000 |
Rheumatoid arthritis |
IRF5 |
More details |
| DE_00584 |
chr11 |
112025156 |
112027156 |
Bronchial asthma |
IL-18 |
More details |
| DE_00590 |
chr20 |
44739156 |
44740600 |
Rheumatoid arthritis |
CD40 |
More details |
| DE_00612 |
chr10 |
6107202 |
6117600 |
Rheumatoid arthritis |
PFKFB3 |
More details |
| DE_00627 |
chr21 |
45600202 |
45618000 |
Rheumatoid arthritis |
ICOSLG |
More details |
| DE_00641 |
chr9 |
100548402 |
100549800 |
Papillary thyroid cancer |
FOXE1, PTCSC2 |
More details |
| DE_00650 |
chr3 |
123323002 |
123427800 |
Asthma |
MYLK |
More details |
| DE_00653 |
chr2 |
30439602 |
30453600 |
Rheumatoid arthritis |
LBH |
More details |
| DE_00663 |
chr9 |
100554802 |
100556800 |
Papillary thyroid cancer |
FOXE1, PTCSC2 |
More details |
| DE_00784 |
chrX |
107711402 |
107712600 |
Bladder Urothelial Carcinoma |
IRS4 |
More details |
| DE_00787 |
chrX |
8640202 |
8640600 |
Bladder Urothelial Carcinoma |
TBL1X |
More details |
| DE_00800 |
chr6 |
151193402 |
151207200 |
Uterine Carcinosarcoma |
MTHFD1L |
More details |
| DE_00801 |
chr6 |
151193402 |
151207200 |
Uterine Corpus Endometrial Carcinoma |
MTHFD1L |
More details |
| DE_00802 |
chr6 |
151193402 |
151207200 |
Sarcoma |
MTHFD1L |
More details |
| DE_00803 |
chr6 |
151193402 |
151207200 |
Ovarian serous cystadenocarcinoma |
MTHFD1L |
More details |
| DE_00804 |
chr6 |
151193402 |
151207200 |
Pancreatic adenocarcinoma |
MTHFD1L |
More details |
| DE_00805 |
chr6 |
151193402 |
151207200 |
Bladder Urothelial Carcinoma |
MTHFD1L |
More details |
| DE_00806 |
chr6 |
151193402 |
151207200 |
Lung squamous cell carcinoma |
MTHFD1L |
More details |
| DE_00807 |
chr6 |
151193402 |
151207200 |
Skin Cutaneous Melanoma |
MTHFD1L |
More details |
| DE_00808 |
chr6 |
151193402 |
151207200 |
Liver cancer |
MTHFD1L |
More details |
| DE_00809 |
chr6 |
151193402 |
151207200 |
Lung adenocarcinoma |
MTHFD1L |
More details |
| DE_00810 |
chr6 |
151193402 |
151207200 |
Prostate adenocarcinoma |
MTHFD1L |
More details |
| DE_00816 |
chr10 |
90986602 |
91006000 |
Bladder Urothelial Carcinoma |
LIPA |
More details |
| DE_00823 |
chr4 |
101083002 |
101083200 |
Bladder Urothelial Carcinoma |
PPP3CA |
More details |
| DE_00836 |
chr6 |
167395002 |
167395200 |
Bladder Urothelial Carcinoma |
MLLT4 |
More details |
| DE_00856 |
chr17 |
15879602 |
15880800 |
Bladder Urothelial Carcinoma |
NCOR1 |
More details |
| DE_00866 |
chr2 |
233154402 |
233159800 |
Bladder Urothelial Carcinoma |
GIGYF2 |
More details |
| DE_00878 |
chr3 |
15599802 |
15600000 |
Bladder Urothelial Carcinoma |
BTD |
More details |
| DE_00899 |
chrX |
128374202 |
128374800 |
Bladder Urothelial Carcinoma |
SMARCA1 |
More details |
| DE_00911 |
chr5 |
1725202 |
1726000 |
Bladder Urothelial Carcinoma |
TERT |
More details |
| DE_00920 |
chr16 |
84240602 |
84241000 |
Bladder Urothelial Carcinoma |
OSGIN1 |
More details |
| DE_00932 |
chrX |
105549002 |
105550400 |
Bladder Urothelial Carcinoma |
TSC22D3 |
More details |
| DE_00945 |
chr16 |
663202 |
685800 |
Bladder Urothelial Carcinoma |
STUB1 |
More details |
| DE_00971 |
chr11 |
2158202 |
2159200 |
Bladder Urothelial Carcinoma |
KCNQ1 |
More details |
| DE_00978 |
chr11 |
16759202 |
16759800 |
Bladder Urothelial Carcinoma |
INSC |
More details |
| DE_00985 |
chrX |
23575002 |
23575800 |
Bladder Urothelial Carcinoma |
PTCHD1 |
More details |
| DE_01016 |
chr2 |
27730802 |
27731200 |
Chronic kidney disease
|
KRTCAP3, ZNF513, FTHL3P, SNX17, PPM1G, NRBP1, ZNF512, CCDC121, SLC4A1AP, SUPT7L, AGBL5, SLC30A3, GPN1, MPV17, GCKR, IFT172, FNDC4, GTF3C2, EIF2B4, RBKS, BRE, C2orf16, UCN |
More details |
| DE_01025 |
chr1 |
155187002 |
155196600 |
Chronic kidney disease
|
SCAMP3, RUSC1, FAM189B, ADAR, LENEP, GBA, FLAD1, CLK2, ZBTB7B, FDPS, MUC1, C1orf104, MIR555, ADAM15, HCN3, YY1AP1, PKLR, DAP3, DPM3, EFNA1, RAG1AP1, THBS3, KRTCAP2, TRIM46, CKS1B, EFNA3, LOC645676, ASH1L, MSTO1, GBAP, EFNA4, PBXIP1, PMVK, MTX1, PYGO2, SHC1 |
More details |
| DE_01029 |
chr1 |
150947602 |
150955600 |
Chronic kidney disease
|
MUC1, C1orf54, THBS3, PSMB4, GBA, GBAP, APH1A, CTSS, ANP32E, ECM1, C1orf51, NBPF10, CA14, LYSMD1, CTSK, ARNT, SETDB1, LASS2, ANXA9, GOLPH3L, PRUNE, C1orf56, CDC42SE1, MLLT11, MRPS21, PRPF3, RPRD2, TARS2, VPS72, ADAMTSL4, MCL1, ENSA, SEMA6C, SCNM1, GABPB2, PIP5K1A, FAM63A, PSMD4 |
More details |
| DE_01038 |
chr20 |
57468002 |
57486800 |
Chronic kidney disease
|
PPP4R1L, ATP5E, NPEPL1, STX16, RAB22A, GNAS, VAPB, AURKA, SLMO2, TH1L, CTSZ |
More details |
| DE_01051 |
chr20 |
23608802 |
23618600 |
Chronic kidney disease
|
NXT1, CST1, GZF1, NAPB, CST3, CST2, CST5, ENTPD6, PYGB, CST8, CST4, SSTR4, THBD |
More details |
