Benchmark diseases table
Benchmark diseases table G2D Home

In order to benchmark the performance of the algorithms, 227 OMIM phenotypes that were linked to more than one gene (i.e.mutations in different genes that produce the same phenotype) were selected from the EntrezGene database.

For each disease, we fixed one gene as the "target gene". Then, to do the predictions, we defined a chromosomal region of 30 Mb around the target gene. All the tested methods use different inputs but the predictions were made in the same bands around the target genes.

OMIM DISEASE NAME TARGET GENE TARGET GENE NAME Chr From To ADDITIONAL GENES
101400 Saethre-Chotzen syndrome with eyelid anomalies 2263 FGFR2 fibroblast growth factor receptor 2 isoform 1 chr10105413628135413628 7291
102200 Acromelagy 2778 GNAS guanine nucleotide binding protein, alpha chr203243596462435964 6755
103470 Waardenburg syndrome/albinism, digenic 4286 MITF microphthalmia-associated transcription factor chr35508282685082826 7299
103780 Alcoholism, susceptibility to 2555 GABRA2 gamma-aminobutyric acid A receptor, alpha 2 chr431162451.561162451.5 3356
104300 Alzheimer disease 6 323 APBB2 amyloid beta A4 precursor protein-binding, chr425767617.555767617.5 1636 4353 4846 5328 22976
105150 Cerebral amyloid angiopathy 19 ABCA1 ATP-binding cassette, sub-family A member 1 chr989685832.5119685832.5 1471
105200 Amyloidosis, hereditary renal 2243 FGA fibrinogen, alpha chain isoform alpha chr4140866847170866847 4069
105400 Amyotrophic lateral sclerosis 1639 DCTN1 dynactin 1 isoform 2 chr25950670789506707 4744 5630 6647
105830 Angelman syndrome 4204 MECP2 methyl CpG binding protein 2 chrX124824264154824264 7337
107250 Anterior segment mesenchymal dysgenesis and cataract 2301 FOXE3 forkhead box E3 chr13259448762594487 5309
109800 Bladder cancer 2261 FGFR3 fibroblast growth factor receptor 3 isoform 1 chr4030000000 3265 3845 5925
111400 Blood group, P system 8706 B3GALT3 UDP-Gal:betaGlcNAc beta chr3147286746177286746 53947
113800 Epidermolytic hyperkeratosis 3848 KRT1 keratin 1 chr123635782166357821 3858
114030 Cafe-au-lait spots with glioma or leukemia 4292 MLH1 MutL protein homolog 1 chr32203859552038595 4436
114480 Breast cancer 472 ATM ataxia telangiectasia mutated protein isoform 2 chr1192702516122702516 580 675 3845 5002 5290 5888 7157 8493 9821 11200 83990
114500 Colon cancer, hereditary nonpolypopsis 701 BUB1B BUB1 budding uninhibited by benzimidazoles 1 chr1523270482.553270482.5 2033 4953 5157 5290 5320 5795 7157 8313 27030 201163
114550 Hepatocellular cancer 841 CASP8 caspase 8 isoform C chr2186966769216966769 1499 4233 5157 7157 8312
115200 Cardiomyopathy, dilated 70 ACTC cardiac muscle alpha actin proprotein chr1517872102.547872102.5 4000 4625 5350
120200 Coloboma, ocular 5080 PAX6 paired box gene 6 isoform a chr111677629646776296 6469
122000 Corneal dystrophy, posterior polymorphous 1296 COL8A2 collagen, type VIII, alpha 2 chr12123359951233599 30813
122100 Meesmann corneal dystrophy 3850 KRT3 keratin 3 chr1236473092.566473092.5 3859
122700 Coumarin resistance 1548 CYP2A6 cytochrome P450, family 2, subfamily A, chr1931044855.561044855.5 1559 79001
123150 Jackson-Weiss sydnrome 2260 FGFR1 fibroblast growth factor receptor 1 isoform 1 chr823412211.553412211.5 2263
123700 Cutis laxa 2006 ELN elastin chr75790742487907424 10516
124000 Mitochondrial complex III deficiency 617 BCS1L BCS1-like chr2204352414.5234352414.5 7381
125850 MODY, one form 3172 HNF4A hepatocyte nuclear factor 4 alpha isoform f chr2027452144.557452144.5 3630
125853 Diabetes mellitus, noninsulin-dependent 208 AKT2 v-akt murine thymoma viral oncogene homolog 2 chr193044731660447316 2642 2820 3172 3651 4760 5167 6833 6927 6928 7422 8660 9479 56729
126200 Multiple sclerosis, susceptibility to 4261 CIITA class II transactivator chr16030000000 5788
127750 Dementia, Lewy body 6620 SNCB beta-synuclein chr5150857866180857866 6622
130000 Ehlers-Danlos syndrome, type I 1277 COL1A1 alpha 1 type I collagen preproprotein chr173062586760625867 1289 1290
130020 Ehlers-Danlos syndrome, type III 1281 COL3A1 procollagen, type III, alpha 1 chr2174683363.5204683363.5 7148
130060 Ehlers-Danlos syndrome, type VII 1277 COL1A1 alpha 1 type I collagen preproprotein chr173062586760625867 1278
130650 Beckwith-Wiedemann syndrome 1028 CDKN1C cyclin-dependent kinase inhibitor 1C chr11030000000 64324
131800 Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types 3691 ITGB4 integrin beta 4 isoform 3 precursor chr174877474278774742 3852 3861
132600 Pilomatrixoma 1499 CTNNB1 catenin (cadherin-associated protein), beta 1, chr32624820056248200 4595
133200 Erythrokeratodermia variabilis with erythema gyratum repens 2707 GJB3 connexin 31 chr119919862.549919862.5 127534
133239 Esophageal cancer 6049 RNF6 ring finger protein 6 isoform 1 chr131068887340688873 7048 9940 11178 50514 51741
133780 Vitreoretinopathy, exudative, familial 4041 LRP5 low density lipoprotein receptor-related protein chr115290493682904936 8322
136880 Fundus albipunctatus 5959 RDH5 retinol dehydrogenase 5 (11-cis and 9-cis) chr1239402915.569402915.5 5961 6017
137215 Gastric cancer 324 APC adenomatosis polyposis coli chr597163104127163104 843 999 1316 2064 2263 3553 3557 3659 3845 4595
137750 Glaucoma 1A, primary open angle, juvenile-onset 1545 CYP1B1 cytochrome P450, family 1, subfamily B, chr223211848.553211848.5 4010 4653
137760 Glaucoma 1B, primary open angle, adult onset 1545 CYP1B1 cytochrome P450, family 1, subfamily B, chr223211848.553211848.5 10133 134430
137800 Glioblastoma multiforme, somatic 1755 DMBT1 deleted in malignant brain tumors 1 isoform c chr10105413628135413628 2064 4436 5468 5728 9211 55717
142623 Hirschsprung disease 1908 EDN3 endothelin 3 isoform 1 preproprotein chr203243596462435964 2668 3897 4902 5979 8929
143465 Attention-deficit hyperactivity disorder, susceptibility to 1816 DRD5 dopamine receptor D5 chr4030000000 6531
143890 Hypercholesterolemia, familial 19 ABCA1 ATP-binding cassette, sub-family A member 1 chr989685832.5119685832.5 336 2053 3700 3949 10842
144200 Epidermolytic palmoplantar keratoderma 3857 KRT9 keratin 9 chr172197941051979410 3868
144700 Renal cell carcinoma 4968 OGG1 8-oxoguanine DNA glycosylase isoform 1a chr3030000000 11236 84925 201163
145000 Hyperparathyroidism, AD 4221 MEN1 menin isoform 1 chr114933126979331269 79577
145500 Hypertension, essential 118 ADD1 adducin 1 (alpha) isoform a chr4030000000 183 185 1577 1889 2784 4843 4846 5740
145750 Hypertriglyceridemia, susceptibility to 6101 RP1 retinitis pigmentosa RP1 protein chr840700772.570700772.5 116519 149998
145900 Dejerine-Sottas disease 1959 EGR2 early growth response 2 protein chr1049244383.579244383.5 4359 5376 57716
146110 Hypogonadotropic hypogonadism 26012 NELF nasal embryonic LHRH factor chr9108429268138429268 84634
146200 Hypoparathyroidism, familial 846 CASR calcium-sensing receptor chr3108471227138471227 5741 9247
147050 Atopy 2206 MS4A2 membrane-spanning 4-domains, subfamily A, member chr1144616259.574616259.5 6403 7941 11005 26762 51131
148700 Keratosis palmoplantaris striata I 1828 DSG1 desmoglein 1 preproprotein chr181217078442170784 3848
149400 Startle disease/hyperekplexia, autosomal dominant 2741 GLRA1 glycine receptor, alpha 1 chr5136233364.5166233364.5 2743
151400 Leukemia, chronic lymphatic, susceptibility to 595 CCND1 cyclin D1 chr1154170246.584170246.5 5027 115761
151623 Li Fraumeni syndrome 1029 CDKN2A cyclin-dependent kinase inhibitor 2A isoform 1 chr96961526.536961526.5 7157
151660 Lipodystrophy, familial partial 4000 LMNA lamin A/C isoform 3 chr1137909876167909876 5468
152700 Lupus erythematosus, systemic, susceptibility 356 FASLG fas ligand chr1154363405.5184363405.5 1773 2214 5133 26191
155240 Medullary thyroid carcinoma 4914 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 chr1138654153168654153 5979
155255 Medulloblastoma 29 ABR active breakpoint cluster region-related chr17030000000 324 675 1499 1755 8643 51684
157300 Migraine with aura, susceptibility to 1909 EDNRA endothelin receptor type A chr4133792906.5163792906.5 2099 7124
157640 Progressive external ophthalmoplegia with mitochondrial DNA deletions 291 SLC25A4 solute carrier family 25 (mitochondrial carrier; chr4161411218191411218 5428 56652
158000 Monilethrix 3887 KRTHB1 keratin, hair, basic, 1 chr1235968910.565968910.5 3892
158350 Cowden disease 657 BMPR1A bone morphogenetic protein receptor, type IA chr1073649605.5103649605.5 5728
158810 Bethlem myopathy 1291 COL6A1 collagen, type VI, alpha 1 precursor chr211694432346944323 1292 1293
159900 Dystonia, myoclonic 1813 DRD2 dopamine receptor D2 isoform short chr1197793620.5127793620.5 8910
161800 Myopathy, nemaline 58 ACTA1 alpha 1 actin precursor chr1210874788.5240874788.5 7169 7170
164230 Obsessive-compulsive disorder, protection against 627 BDNF brain-derived neurotrophic factor isoform a chr111263631542636315 3356 6532
165720 Osteoarthritis susceptibility, female-specifi 1280 COL2A1 alpha 1 type II collagen isoform 2, chr1231668913.561668913.5 2487 54829
166710 Osteopenia/osteoporosis 799 CALCR calcitonin receptor chr777730631107730631 1277 1278 3569 4041 8572
167200 Pachyonychia congenita, Jadassohn-Lewandowsky type 3853 KRT6A keratin 6A chr1236170504.566170504.5 3868
167210 Pachyonychia congenita, Jackson-Lawler type 3854 KRT6B keratin 6B chr1236129684.566129684.5 3872
167800 Pancreatitis, hereditary 5644 PRSS1 protease, serine, 1 preproprotein chr7126945392156945392 6690
168000 Paragangliomas, familial central nervous system 6390 SDHB succinate dehydrogenase complex, subunit B, iron chr12108250.532108250.5 6392
168500 Parietal foramina 1 4488 MSX2 msh homeobox 2 chr5150857866180857866 60529
168600 Parkinson disease 1621 DBH dopamine beta-hydroxylase precursor chr9108429268138429268 4137 4729 4929 6908 7345 9627
170400 Hypokalemic periodic paralysis 779 CACNA1S calcium channel, voltage-dependent, L type, chr1182776869.5212776869.5 6329 10008
171300 Pheochromocytoma 6392 SDHD succinate dehydrogenase complex, subunit D chr1196466872.5126466872.5 7428
172700 Dementia, Pick disease-like 4137 MAPT microtubule-associated protein tau isoform 3 chr1726426460.556426460.5 5663
174050 Polycystic liver disease 5589 PRKCSH protein kinase C substrate 80K-H isoform 2 chr19030000000 11231
174900 Polyposis, juvenile intestinal 657 BMPR1A bone morphogenetic protein receptor, type IA chr1073649605.5103649605.5 4089
176200 Porphyria variegata 3077 HFE hemochromatosis protein isoform 10 precursor chr61119904041199040 5498
176270 Prader-Willi syndrome 4692 NDN necdin chr15648297436482974 6638
176807 Prostate cancer 1 367 AR androgen receptor isoform 2 chrX51649284.581649284.5 463 675 1316 2048 3092 3732 4481 4601 5728 7991 8379 11200 60528
177200 Liddle syndrome 6338 SCNN1B sodium channel, nonvoltage-gated 1, beta chr16828352238283522 6340
178500 Pulmonary fibrosis, idiopathic, susceptibility to 6435 SFTPA1 surfactant, pulmonary-associated protein A1 chr106636267796362677 6440
180300 Rheumatoid arthritis, susceptibility to 861 RUNX1 runt-related transcription factor 1 isoform b chr211694432346944323 3586 4261 4795 6583 23569 26191
180800 Roussy-Levy syndrome 4359 MPZ myelin protein zero chr1143090768173090768 5376
180849 Rubenstein-Taybi syndrome 1387 CREBBP CREB binding protein chr16030000000 2033
181000 Sarcoidosis, susceptibility to 3123 HLA-DRB1 major histocompatibility complex, class II, DR chr61766017147660171 56244 64127
181500 Schizophrenia 207 AKT1 v-akt murine thymoma viral oncogene homolog 1 chr1476368585106368585 1312 1610 3356 6854 8542 23780 27185 65078 80832 84062 267012
182940 Spina bifida, risk of 4548 MTR 5-methyltetrahydrofolate-homocysteine chr1215522847245522847 4552
187500 Tetralogy of Fallot 182 JAG1 jagged 1 precursor chr20030000000 1482 23414
187950 Thrombocythemia, essential 3717 JAK2 Janus kinase 2 chr9030000000 4352 7066
188470 Thyroid carcinoma, follicular 3265 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene chr11030000000 5728 9562
188550 Thyroid carcinoma, papillary 5108 PCM1 pericentriolar material 1 chr8288342532883425 5573 8030 8031 8805 9950 51592
189800 Preeclampsia 4846 NOS3 nitric oxide synthase 3 (endothelial cell) chr7128628139158628139 219736
190685 Down syndrome 2623 GATA1 GATA binding protein 1 chrX33407292.563407292.5 4548
191100 Tuberous sclerosis-1 3458 IFNG interferon, gamma chr1251837530.581837530.5 7248 7249
192600 Cardiomyopathy, familial hypertrophic, 1 70 ACTC cardiac muscle alpha actin proprotein chr1517872102.547872102.5 859 4624 4625 85366
193300 Hemangioblastoma, cerebellar,somatic 595 CCND1 cyclin D1 chr1154170246.584170246.5 7428
193900 White sponge nevus 3851 KRT4 keratin 4 chr123649061466490614 3860
194070 Denys-Drash syndrome 675 BRCA2 breast cancer 2, early onset chr131682975246829752 2719 7490
201400 ACTH deficiency 1392 CRH corticotropin releasing hormone precursor chr852251970.582251970.5 9095
202370 Adrenoleukodystrophy, neonatal 5189 PEX1 peroxisome biogenesis factor 1 chr776781910.5106781910.5 5192 5194 5830 55670
202400 Afibrinogenemia 2243 FGA fibrinogen, alpha chain isoform alpha chr4140866847170866847 2244
202700 Neutropenia, congenital 1991 ELA2 elastase 2, neutrophil preproprotein chr19030000000 2672
203300 Hermansky-Pudlak syndrome 3257 HPS1 Hermansky-Pudlak syndrome 1 protein isoform a chr1085180148.5115180148.5 11234 79803 84062 84343 89781
203450 Alexander disease 2670 GFAP glial fibrillary acidic protein chr172534431055344310 4723
203780 Alport syndrome, autosomal recessive 1285 COL4A3 alpha 3 type IV collagen isoform 4, precursor chr2212928488242928488 1286
204000 Leber congenital amaurosis 1406 CRX cone-rod homeobox protein chr193381165163811651 3000 23418 57096
209880 Central hypoventilation syndrome, congenital 627 BDNF brain-derived neurotrophic factor isoform a chr111263631542636315 1908 2668 5979 8929
209900 Bardet-Biedl syndrome 1 582 BBS1 Bardet-Biedl syndrome 1 chr115104539581045395 583 585 8195 55212 84100 123016 129880
209920 Bare lymphocyte syndrome, type II, complementation group C 4261 CIITA class II transactivator chr16030000000 5993 5994 8625
209950 BCG and salmonella infection, disseminated 3459 IFNGR1 interferon gamma receptor 1 chr6122571508.5152571508.5 3460 3593 3594 6772
210250 Sitosterolemia 64240 ABCG5 sterolin 1 chr22896468758964687 64241
211900 Calcinosis, tumoral 2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 chr2151441757181441757 8074
211980 Lung cancer 673 BRAF v-raf murine sarcoma viral oncogene homolog B1 chr7124982633.5154982633.5 1326 1956 2064 3845 5002 5071 5519 9940
214100 Zellweger syndrome 5189 PEX1 peroxisome biogenesis factor 1 chr776781910.5106781910.5 5192 5194 5195 5824 5830 8504 55670
214150 Cerebrooculofacioskeletal syndrome 2068 ERCC2 excision repair cross-complementing rodent chr193381165163811651 2073
215600 Cirrhosis, noncryptogenic, susceptibility to 3856 KRT8 keratin 8 chr123658125566581255 3875
217095 Conotruncal cardiac anomalies 6899 TBX1 T-box 1 isoform B chr223133409.533133409.5 55997
219000 Fraser syndrome 80144 FRAS1 Fraser syndrome 1 isoform 4 chr46446137594461375 341640
219050 Cryptorchidism, idiopathic 3640 INSL3 insulin-like 3 precursor chr192790988.532790988.5 122042
219100 Cutis laxa, recessive, type I 4015 LOX lysyl oxidase preproprotein chr5106435957.5136435957.5 10516
220400 Jervell and Lange-Nielsen syndrome 3753 KCNE1 potassium voltage-gated channel, Isk-related chr211694432346944323 3784
221770 Polycystic lipomembranous osteodysplasia with sclerosing leukenencephalophathy 7305 TYROBP TYRO protein tyrosine kinase binding protein chr192608914056089140 54209
223100 Hypolactasia, adult type 3938 LCT lactase-phlorizin hydrolase preproprotein chr2121404048151404048 4175
224900 Ectodermal dysplasia, hypohidrotic, autosomal recessive 10913 EDAR ectodysplasin A receptor chr293988934123988934 128178
225500 Ellis-van Creveld syndrome 2121 EVC Ellis van Creveld syndrome protein chr4030000000 132884
226650 EBD, generalized atrophic benign 1308 COL17A1 alpha 1 type XVII collagen chr1090806201.5120806201.5 3691 3909 3914 3918
226700 Epidermolysis bullosa, Herlitz junctional type 3909 LAMA3 laminin alpha 3 subunit isoform 2 chr18474780834747808 3914 3918
226730 Epidermolysis bullosa, junctional, with pyloric atresia 3655 ITGA6 integrin alpha chain, alpha 6 chr2158155068.5188155068.5 3691
227300 Combined factor V and VIII deficiency 3998 LMAN1 lectin, mannose-binding, 1 precursor chr184016338070163380 90411
231200 Bernard-Soulier syndrome 2811 GP1BA platelet glycoprotein Ib alpha polypeptide chr17030000000 2812
231680 Glutaricaciduria, type IIA 2108 ETFA electron transfer flavoprotein, alpha chr155934336989343369 2109 2110
236670 Walker-Warburg syndrome 2218 FCMD fukutin chr990446984120446984 10585
242100 Ichthyosiform erythroderma, congenital 242 ALOX12B arachidonate 12-lipoxygenase, 12R type chr17030000000 7051 59344
244400 Kartagener syndrome 1767 DNAH5 dynein, axonemal, heavy polypeptide 5 chr5030000000 8701 27019
248200 Fundus flavimaculatus 24 ABCA4 ATP-binding cassette, sub-family A member 4 chr179234717.5109234717.5 54714
248310 Plasmodium falciparum parasitemia, intensity of 948 CD36 CD36 antigen chr764934410.594934410.5 2995 4843
251880 Mitochondrial DNA-depletion syndrome, hepatocerebral form 1716 DGUOK deoxyguanosine kinase isoform c precursor chr25907566089075660 7084 8803
252010 Complex I deficiency 4719 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, chr2191829161221829161 4720 4723 4724 4726
252150 Molybdenum cofactor deficiency, type A 4337 MOCS1 molybdenum cofactor synthesis-step 1 protein chr624992702.554992702.5 4338 10243
254500 Multiple myeloma 595 CCND1 cyclin D1 chr1154170246.584170246.5 3981
254780 Epilepsy, myoclonic, Lafora type 7957 EPM2A laforin isoform b chr6131043425161043425 378884
256000 Leigh syndrome 617 BCS1L BCS1-like chr2204352414.5234352414.5 1355 4722 4723 4724 4728 6389 6834 374291
256450 Persistent hyperinsulinemic hypoglycemia of infancy 3767 KCNJ11 potassium inwardly-rectifying channel J11 chr112365627.532365627.5 6833
256700 Neuroblastoma 4830 NME1 non-metastatic cells 1, protein (NM23A) chr1731591109.561591109.5 8929
258100 Oguchi disease-1 6011 GRK1 rhodopsin kinase chr1384142980114142980 6295
259420 Osteogenesis imperfecta, type III 1277 COL1A1 alpha 1 type I collagen preproprotein chr173062586760625867 1278
259500 Osteosarcoma 5925 RB1 retinoblastoma 1 chr1332864128.562864128.5 11200
259700 Osteopetrosis, recessive 1186 CLCN7 chloride channel 7 chr16030000000 10312 28962
260350 Pancreatic cancer, 1 675 BRCA2 breast cancer 2, early onset chr131682975246829752 3845 7157 7873
261100 Megaloblastic anemia-1 8029 CUBN cubilin chr102059374.532059374.5 81693
261515 D-bifunctional protein deficiency 30 ACAA1 acetyl-Coenzyme A acyltransferase 1 chr323146535.553146535.5 3295
261550 Persistent Mullerian duct syndrome 268 AMH anti-Mullerian hormone chr19030000000 269
264350 Pseudohypoaldosteronism, type I 6337 SCNN1A sodium channel, nonvoltage-gated 1 alpha chr12030000000 6338 6340
265120 Pulmonary alveolar proteinosis 1439 CSF2RB colony stimulating factor 2 receptor, beta, chr221955471049554710 6439 6440
266500 Refsum disease 5191 PEX7 peroxisomal biogenesis factor 7 chr6122230926.5152230926.5 5264
266510 Refsum disease, infantile form 5189 PEX1 peroxisome biogenesis factor 1 chr776781910.5106781910.5 5828 55670
266600 Crohn disease 9231 DLG5 discs large homolog 5 chr106426056994260569 64127
267430 Renal tubular dysgenesis 183 AGT angiotensinogen preproprotein chr1212149476242149476 185 1636 5972
268000 Retinitis pigmentasa, AR, without hearing loss 1258 CNGB1 cyclic nucleotide gated channel beta 1 chr1641517129.571517129.5 1406 6017 7399 10002 10461
268220 Rhabdomyosarcoma, alveolar 2308 FOXO1A forkhead box O1A chr132508500455085004 5077 5081
275000 Graves disease 1493 CTLA4 cytotoxic T-lymphocyte-associated protein 4 chr2189560606219560606 2638 7253
276300 Turcot syndrome with glioblastoma 324 APC adenomatosis polyposis coli chr597163104127163104 4292 5395
277580 Shah-Waardenburg syndrome, 1908 EDN3 endothelin 3 isoform 1 preproprotein chr203243596462435964 1910 6663
300009 Dent disease 1184 CLCN5 chloride channel 5 chrX3454876464548764 4952
303700 Colorblindness, blue monochromatic 2652 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive chrX124824264154824264 5956
310200 Becker muscular dystrophy modifier 1756 DMD dystrophin Dp116 isoform chrX16092851.546092851.5 4618
312750 Rett syndrome 4204 MECP2 methyl CpG binding protein 2 chrX124824264154824264 6792
600101 Deafness, autosomal dominant 2 2707 GJB3 connexin 31 chr119919862.549919862.5 9132
600263 H. pylori infection, susceptibility to 3459 IFNGR1 interferon gamma receptor 1 chr6122571508.5152571508.5 5803
600669 Epilepsy, generalized idiopathic 785 CACNB4 calcium channel, voltage-dependent, beta 4 chr2137650905.5167650905.5 4200
600794 Spinal muscular atrophy, distal, with upper limb predominance 2617 GARS glycyl-tRNA synthetase chr715427327.545427327.5 26580
600802 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type 915 CD3D CD3D antigen, delta polypeptide (TiT3 complex) chr11102716809132716809 3575
600807 Asthma, susceptibility to 240 ALOX5 arachidonate 5-lipoxygenase chr103022543760225437 3135 3593 3596 7124 7356 7941 51131 117156
601386 Deafness, autosomal recessive 12 491 ATP2B2 plasma membrane calcium ATPase 2 isoform b chr3030000000 64072
601457 Severe combined immunodeficiency, B cell-negative 5896 RAG1 recombination activating gene 1 chr112155299651552996 5897
601462 Myasthenic syndrome, slow-channel congenital 1134 CHRNA1 cholinergic receptor, nicotinic, alpha chr2160446493.5190446493.5 1140 1144 1145
601544 Deafness, autosomal dominant 3 2706 GJB2 gap junction protein, beta 2, 26kDa (connexin chr134661379.534661379.5 10804
601626 Leukemia, acute myelogenous 861 RUNX1 runt-related transcription factor 1 isoform b chr211694432346944323 1050 2322 3815 4026 4291 4869 6455 8021 8028 8301 8833 23365 26511 54904 64324
601665 Obesity, mild, early-onset 154 ADRB2 adrenergic, beta-2-, receptor, surface chr5133187208163187208 155 181 4159 4160 5167 5468 6492 7350 7351 7352 8431 9607 51738
601675 Trichothiodystrophy 2068 ERCC2 excision repair cross-complementing rodent chr193381165163811651 404672
601680 Arthrogryposis multiplex congenita, distal, type 2B 7136 TNNI2 troponin I, skeletal, fast chr11030000000 7140
602080 Paget disease of bone 8792 TNFRSF11A tumor necrosis factor receptor superfamily, chr184317340673173406 8878
602089 Hemangioma, capillary infantile 2324 FLT4 fms-related tyrosine kinase 4 isoform 2 chr5150857866180857866 3791
602390 Hemochromatosis, type 2 57817 HAMP hepcidin antimicrobial peptide chr1925466552.555466552.5 148738
602475 Ossification of posterior longitudinal ligament of spine 1291 COL6A1 collagen, type VI, alpha 1 precursor chr211694432346944323 5167
602522 Bartter syndrome, infantile, with sensorineural deafness 1187 CLCNKA chloride channel Ka chr11099939.531099939.5 1188 7809
602722 Renal tubular acidosis, distal, autosomal recessive 6521 SLC4A1 solute carrier family 4, anion exchanger, member chr1724689555.554689555.5 50617
603075 Macular degeneration, age-related, 1 3075 CFH complement factor H isoform b precursor chr1178377511208377511 59338 83872
603554 Omenn syndrome 5896 RAG1 recombination activating gene 1 chr112155299651552996 5897 64421
603896 Leukoencephalopathy with vanishing white matter 1967 EIF2B1 eukaryotic translation initiation factor 2B, chr12102449811132449811 8890 8891 8892 8893
603932 Intervertebral disc disease, susceptibility to 1298 COL9A2 alpha 2 type IX collagen chr12544395455443954 1299 8483
604219 Cataract, congenital 4284 MIP major intrinsic protein of lens fiber chr124013299770132997 8419
604233 Epilepsy, generalized, with febrile seizures plus 2566 GABRG2 gamma-aminobutyric acid A receptor, gamma 2 chr5146485133176485133 6323 6324
604367 Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension 5468 PPARG peroxisome proliferative activated receptor chr3030000000 5506
604370 Epithelial ovarian cancer, somatic 4978 OPCML opioid binding protein/cell adhesion chr11104452384134452384 5290
604571 Bare lymphocyte syndrome, type I 6891 TAP2 transporter 2, ATP-binding cassette, sub-family chr617909298.547909298.5 6892
604772 Ventricular tachycardia, stress-induced polymorphic 845 CASQ2 cardiac calsequestrin 2 chr1100989553.5130989553.5 6262
604931 Cortisone reductase deficiency 3290 HSD11B1 11-beta-hydroxysteroid dehydrogenase 1 chr1191281471.5221281471.5 9563
605074 Renal cell carcinoma, papillary, 1 4233 MET met proto-oncogene precursor chr7100981609130981609 5546 7030
605253 Neuropathy, congenital hypomyelinating, 1 1959 EGR2 early growth response 2 protein chr1049244383.579244383.5 4359
605462 Basal cell carcinoma, somatic 5727 PTCH patched chr980319473110319473 8643
605899 Glycine encephalopathy 275 AMT aminomethyltransferase (glycine cleavage system chr334432431.564432431.5 2653 2731
606054 Propionicacidemia 5095 PCCA propionyl-Coenzyme A carboxylase, alpha chr1384142980114142980 5096
606176 Diabetes mellitus, neonatal-onset 2645 GCK glucokinase isoform 3 chr728964463.558964463.5 3767
606657 Glaucoma, normal tension, susceptibility to 4976 OPA1 optic atrophy 1 isoform 1 chr3169505740199505740 10133
606690 Lymphangioleiomyomatosis 7248 TSC1 tuberous sclerosis 1 protein isoform 2 chr9108429268138429268 7249
606764 Gastrointestinal stromal tumor, somatic 3815 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral chr44040538070405380 5156
606904 Epilepsy, juvenile myoclonic 785 CACNB4 calcium channel, voltage-dependent, beta 4 chr2137650905.5167650905.5 1181 2554
607174 Meningioma 4330 MN1 meningioma 1 chr2211496270.541496270.5 4771 5728
607208 Myoclonic epilepsy, severe, of infancy, 607208 2566 GABRG2 gamma-aminobutyric acid A receptor, gamma 2 chr5146485133176485133 6323
607554 Atrial fibrillation, familial 3784 KCNQ1 potassium voltage-gated channel, KQT-like chr11030000000 9992
607748 Familial hypercholanemia 570 BAAT bile acid Coenzyme A: amino acid chr986208752.5116208752.5 9414
607785 Leukemia, juvenile myelomonocytic 4763 NF1 neurofibromin chr171158587641585876 5781 23092
607948 Tuberculosis, susceptibility to 3458 IFNG interferon, gamma chr1251837530.581837530.5 6556
608161 Foveomacular dystrophy, adult-onset, with choroidal neovascularization 5961 RDS retinal degeneration slow protein chr62778603057786030 7439
608930 Myasthenic syndrome, fast-channel congenital 1134 CHRNA1 cholinergic receptor, nicotinic, alpha chr2160446493.5190446493.5 1144 1145
608931 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 1140 CHRNB1 nicotinic acetylcholine receptor beta subunit chr17030000000 1145 5913
609135 Aplastic anemia 3458 IFNG interferon, gamma chr1251837530.581837530.5 7015
609192 Loeys-Dietz syndrome 7046 TGFBR1 transforming growth factor, beta receptor I chr983969092113969092 7048

Meaning of the column headers

DISEASE

Inherited disease that has been linked to mutations in more than one gene.

OMIM: MIM number of the disease.
DISEASE NAME: Name of the disease as in OMIM or as in linked Entrez Gene entry.

TARGET GENE

In order to test the methods, one of the multiple genes that have been associated to the disease is picked as the target gene.

TARGET GENE: Entrez Gene identifier of the target gene.
TARGET GENE NAME: Symbol and name of the target gene.

REGION ANALYSED

Chromosomal region of 30 Mb taken around the target gene. When testing the methods all predictions were carried on these regions.

Chr: Chromosome in which the region is located.
From: Start position (in bp) of the region analysed.
To: Stop position (in bp) of the region analysed.

ADDITIONAL LOCI

ADDITIONAL GENES: Entrez Gene identifiers of additional genes linked to the disease besides the target gene.