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human_disease_knowledge_filtered.tsv
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ABHD11-AS1 ABHD11-AS1 DOID:1928 Williams-Beuren syndrome MedlinePlus CURATED 5
ENSP00000001146 CYP26B1 DOID:2340 Craniosynostosis UniProtKB-KW CURATED 4
ENSP00000003084 CFTR DOID:0111862 Congenital bilateral absence of vas deferens MedlinePlus CURATED 5
ENSP00000003084 CFTR DOID:1485 Cystic fibrosis MedlinePlus CURATED 5
ENSP00000005226 USH1C DOID:0050439 Usher syndrome MedlinePlus CURATED 5
ENSP00000005226 USH1C DOID:0050563 Nonsyndromic deafness MedlinePlus CURATED 5
ENSP00000005226 USH1C DOID:0050563 Nonsyndromic deafness UniProtKB-KW CURATED 4
ENSP00000005226 USH1C DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000012443 PPP5C DOID:10652 Alzheimer's disease UniProtKB-KW CURATED 4
ENSP00000012443 PPP5C DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000012443 PPP5C DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000013807 ERCC1 DOID:0050427 Xeroderma pigmentosum MedlinePlus CURATED 5
ENSP00000013807 ERCC1 DOID:12270 Coloboma MedlinePlus CURATED 5
ENSP00000013807 ERCC1 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000016171 COX15 DOID:3652 Leigh disease MedlinePlus CURATED 5
ENSP00000016171 COX15 DOID:3652 Leigh disease UniProtKB-KW CURATED 4
ENSP00000016171 COX15 DOID:3762 cytochrome-c oxidase deficiency disease MedlinePlus CURATED 5
ENSP00000020945 SNAI2 DOID:3263 Piebaldism MedlinePlus CURATED 5
ENSP00000020945 SNAI2 DOID:9258 Waardenburg's syndrome MedlinePlus CURATED 5
ENSP00000020945 SNAI2 DOID:9258 Waardenburg's syndrome UniProtKB-KW CURATED 4
ENSP00000023064 SLC7A9 DOID:9266 Cystinuria MedlinePlus CURATED 5
ENSP00000023064 SLC7A9 DOID:9266 Cystinuria UniProtKB-KW CURATED 4
ENSP00000026218 PIGQ DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000029410 B4GALT7 DOID:13359 Ehlers-Danlos syndrome MedlinePlus CURATED 5
ENSP00000029410 B4GALT7 DOID:13359 Ehlers-Danlos syndrome UniProtKB-KW CURATED 4
ENSP00000037502 MYOC DOID:1686 Glaucoma UniProtKB-KW CURATED 4
ENSP00000039007 OTC DOID:9271 Ornithine carbamoyltransferase deficiency MedlinePlus CURATED 5
ENSP00000043402 RTN4R DOID:5419 Schizophrenia MedlinePlus CURATED 5
ENSP00000052754 DCN DOID:0060445 Congenital stromal corneal dystrophy MedlinePlus CURATED 5
ENSP00000053243 TNFRSF17 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000053469 GUCA1A DOID:0050572 cone-rod dystrophy MedlinePlus CURATED 5
ENSP00000053469 GUCA1A DOID:0050572 cone-rod dystrophy UniProtKB-KW CURATED 4
ENSP00000053867 GRN DOID:0110732 Neuronal ceroid lipofuscinosis 11 MedlinePlus CURATED 5
ENSP00000053867 GRN DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000053867 GRN DOID:14503 Neuronal ceroid lipofuscinosis UniProtKB-KW CURATED 4
ENSP00000053867 GRN DOID:9255 Frontotemporal dementia MedlinePlus CURATED 5
ENSP00000055077 RFC2 DOID:1928 Williams-Beuren syndrome MedlinePlus CURATED 5
ENSP00000056217 ARHGEF5 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000061240 TLL1 DOID:1882 Atrial heart septal defect UniProtKB-KW CURATED 4
ENSP00000064724 CLDN11 DOID:10579 Leukodystrophy UniProtKB-KW CURATED 4
ENSP00000064780 RELT DOID:2187 Amelogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000070846 PKP2 DOID:0050431 Arrhythmogenic right ventricular cardiomyopathy MedlinePlus CURATED 5
ENSP00000070846 PKP2 DOID:0050700 Cardiomyopathy UniProtKB-KW CURATED 4
ENSP00000075503 STYK1 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000078429 GNA11 DOID:0090109 Autosomal dominant hypocalcemia MedlinePlus CURATED 5
ENSP00000155840 KCNQ1 DOID:0050650 Familial atrial fibrillation MedlinePlus CURATED 5
ENSP00000155840 KCNQ1 DOID:0050650 Familial atrial fibrillation UniProtKB-KW CURATED 4
ENSP00000155840 KCNQ1 DOID:0050793 Short QT syndrome MedlinePlus CURATED 5
ENSP00000155840 KCNQ1 DOID:11714 Gestational diabetes MedlinePlus CURATED 5
ENSP00000155840 KCNQ1 DOID:2842 Jervell-Lange Nielsen syndrome MedlinePlus CURATED 5
ENSP00000155840 KCNQ1 DOID:2843 Long QT syndrome MedlinePlus CURATED 5
ENSP00000155840 KCNQ1 DOID:2843 Long QT syndrome UniProtKB-KW CURATED 4
ENSP00000155840 KCNQ1 DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000160382 ACTL6B DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000162749 TNFRSF1A DOID:0090018 Autosomal dominant familial periodic fever MedlinePlus CURATED 5
ENSP00000162749 TNFRSF1A DOID:2377 Multiple sclerosis MedlinePlus CURATED 5
ENSP00000162749 TNFRSF1A DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000164139 PYGM DOID:2746 Glycogen storage disease V MedlinePlus CURATED 5
ENSP00000164139 PYGM DOID:2747 Glycogen storage disease UniProtKB-KW CURATED 4
ENSP00000164227 BCL3 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000164305 PIGB DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000166139 FSTL3 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000166345 TRIP13 DOID:0080688 Mosaic variegated aneuploidy syndrome MedlinePlus CURATED 5
ENSP00000167586 KRT14 DOID:0050430 Multiple endocrine neoplasia type 2A AmyCo CURATED 2
ENSP00000167586 KRT14 DOID:0050639 Primary cutaneous amyloidosis AmyCo CURATED 4
ENSP00000167586 KRT14 DOID:0111342 Dermatopathia pigmentosa reticularis MedlinePlus CURATED 5
ENSP00000167586 KRT14 DOID:2513 Basal cell carcinoma AmyCo CURATED 4
ENSP00000167586 KRT14 DOID:2730 Epidermolysis bullosa UniProtKB-KW CURATED 4
ENSP00000167586 KRT14 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000167586 KRT14 DOID:4644 Epidermolysis bullosa simplex MedlinePlus CURATED 5
ENSP00000167586 KRT14 DOID:6498 Seborrheic keratosis AmyCo CURATED 4
ENSP00000167586 KRT14 DOID:7039 Borst-Jadassohn intraepidermal carcinoma AmyCo CURATED 3
ENSP00000167586 KRT14 DOID:8691 Mycosis fungoides AmyCo CURATED 3
ENSP00000168216 HSD17B10 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000168712 FGF4 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000176183 DRD4 DOID:2559 Opiate dependence MedlinePlus CURATED 5
ENSP00000177694 TBX21 DOID:2841 Asthma UniProtKB-KW CURATED 4
ENSP00000178638 CA12 DOID:0111371 Isolated hyperchlorhidrosis MedlinePlus CURATED 5
ENSP00000178640 MAP2K5 DOID:0050425 Restless legs syndrome MedlinePlus CURATED 5
ENSP00000185206 CLIC5 DOID:0050563 Nonsyndromic deafness MedlinePlus CURATED 5
ENSP00000185206 CLIC5 DOID:0050563 Nonsyndromic deafness UniProtKB-KW CURATED 4
ENSP00000193322 OSTM1 DOID:13533 Osteopetrosis MedlinePlus CURATED 5
ENSP00000193322 OSTM1 DOID:13533 Osteopetrosis UniProtKB-KW CURATED 4
ENSP00000193391 IMPG2 DOID:10584 Retinitis pigmentosa MedlinePlus CURATED 5
ENSP00000193391 IMPG2 DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000196061 PLOD1 DOID:13359 Ehlers-Danlos syndrome MedlinePlus CURATED 5
ENSP00000196061 PLOD1 DOID:13359 Ehlers-Danlos syndrome UniProtKB-KW CURATED 4
ENSP00000199280 AQP2 DOID:12387 Nephrogenic diabetes insipidus MedlinePlus CURATED 5
ENSP00000199280 AQP2 DOID:9409 Diabetes insipidus UniProtKB-KW CURATED 4
ENSP00000199447 NME8 DOID:9562 Primary ciliary dyskinesia MedlinePlus CURATED 5
ENSP00000199447 NME8 DOID:9562 Primary ciliary dyskinesia UniProtKB-KW CURATED 4
ENSP00000199764 CEACAM6 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000200181 ITGB4 DOID:0060733 Junctional epidermolysis bullosa with pyloric atresia MedlinePlus CURATED 5
ENSP00000200181 ITGB4 DOID:2730 Epidermolysis bullosa UniProtKB-KW CURATED 4
ENSP00000200181 ITGB4 DOID:3209 Junctional epidermolysis bullosa MedlinePlus CURATED 5
ENSP00000200652 SLC22A4 DOID:8778 Crohn's disease MedlinePlus CURATED 5
ENSP00000200676 CETP DOID:10871 Age related macular degeneration MedlinePlus CURATED 5
ENSP00000200676 CETP DOID:1936 Atherosclerosis UniProtKB-KW CURATED 4
ENSP00000202625 TGM6 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000202625 TGM6 DOID:1441 Autosomal dominant cerebellar ataxia UniProtKB-KW CURATED 4
ENSP00000202967 SIRT4 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000203407 UQCRC1 DOID:14330 Parkinson's disease UniProtKB-KW CURATED 4
ENSP00000203407 UQCRC1 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000204566 SPG21 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000204566 SPG21 DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000204679 GNPTG DOID:0080678 Mucolipidosis III gamma MedlinePlus CURATED 5
ENSP00000204679 GNPTG DOID:3343 Glycoproteinosis UniProtKB-KW CURATED 4
ENSP00000204961 EFNB1 DOID:14737 Craniofrontonasal syndrome MedlinePlus CURATED 5
ENSP00000204961 EFNB1 DOID:2340 Craniosynostosis UniProtKB-KW CURATED 4
ENSP00000205143 DLL3 DOID:0050568 Spondylocostal dysostosis MedlinePlus CURATED 5
ENSP00000205402 DLD DOID:3652 Leigh disease MedlinePlus CURATED 5
ENSP00000205402 DLD DOID:9269 Maple syrup urine disease MedlinePlus CURATED 5
ENSP00000205557 ABCC6 DOID:0050644 Arterial calcification of infancy MedlinePlus CURATED 5
ENSP00000205557 ABCC6 DOID:2738 Pseudoxanthoma elasticum MedlinePlus CURATED 5
ENSP00000206542 OSGEP DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000206765 TGM1 DOID:0060655 Autosomal recessive congenital ichthyosis MedlinePlus CURATED 5
ENSP00000207549 UNC13D DOID:0050120 Hemophagocytic lymphohistiocytosis UniProtKB-KW CURATED 4
ENSP00000209728 CDC6 DOID:0060306 Meier-Gorlin syndrome MedlinePlus CURATED 5
ENSP00000209873 AAAS DOID:0050602 triple-A syndrome MedlinePlus CURATED 5
ENSP00000211998 VCL DOID:0050700 Cardiomyopathy UniProtKB-KW CURATED 4
ENSP00000211998 VCL DOID:0080326 Familial hypertrophic cardiomyopathy MedlinePlus CURATED 5
ENSP00000211998 VCL DOID:12930 Dilated cardiomyopathy MedlinePlus CURATED 5
ENSP00000215095 STX1B DOID:0060170 Generalized epilepsy with febrile seizures plus MedlinePlus CURATED 5
ENSP00000215095 STX1B DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000215730 SNAP29 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000215730 SNAP29 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000215754 MIF DOID:676 Juvenile rheumatoid arthritis MedlinePlus CURATED 5
ENSP00000215754 MIF DOID:986 Alopecia areata MedlinePlus CURATED 5
ENSP00000215838 TCN2 DOID:0050818 Transcobalamin II deficiency MedlinePlus CURATED 5
ENSP00000215855 CRYBB3 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000215882 SLC25A1 DOID:0050573 2-hydroxyglutaric aciduria MedlinePlus CURATED 5
ENSP00000215882 SLC25A1 DOID:3635 Congenital myasthenic syndrome UniProtKB-KW CURATED 4
ENSP00000216037 XBP1 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000216124 ARSA DOID:10579 Leukodystrophy UniProtKB-KW CURATED 4
ENSP00000216124 ARSA DOID:10581 Metachromatic leukodystrophy MedlinePlus CURATED 5
ENSP00000216124 ARSA DOID:10581 Metachromatic leukodystrophy UniProtKB-KW CURATED 4
ENSP00000216180 PNPLA3 DOID:0080208 non-alcoholic fatty liver disease MedlinePlus CURATED 5
ENSP00000216180 PNPLA3 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000216181 MYH9 DOID:0050563 Nonsyndromic deafness MedlinePlus CURATED 5
ENSP00000216181 MYH9 DOID:0050563 Nonsyndromic deafness UniProtKB-KW CURATED 4
ENSP00000216181 MYH9 DOID:0060651 MYH-9 related disease MedlinePlus CURATED 5
ENSP00000216181 MYH9 DOID:10983 Alport syndrome UniProtKB-KW CURATED 4
ENSP00000216181 MYH9 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000216185 TXN2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000216223 IL2RB DOID:676 Juvenile rheumatoid arthritis MedlinePlus CURATED 5
ENSP00000216223 IL2RB DOID:7148 Rheumatoid arthritis MedlinePlus CURATED 5
ENSP00000216254 ACO2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000216361 COCH DOID:0050563 Nonsyndromic deafness MedlinePlus CURATED 5
ENSP00000216361 COCH DOID:0050563 Nonsyndromic deafness UniProtKB-KW CURATED 4
ENSP00000216366 AP4S1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000216366 AP4S1 DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000216373 SOS2 DOID:3490 Noonan syndrome MedlinePlus CURATED 5
ENSP00000216392 PYGL DOID:2747 Glycogen storage disease UniProtKB-KW CURATED 4
ENSP00000216392 PYGL DOID:2754 Glycogen storage disease VI MedlinePlus CURATED 5
ENSP00000216452 PIGH DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000216484 SPTLC2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000216484 SPTLC2 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000216639 VRK1 DOID:0060264 Pontocerebellar hypoplasia MedlinePlus CURATED 5
ENSP00000216639 VRK1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000216727 PABPN1 DOID:11719 Oculopharyngeal muscular dystrophy MedlinePlus CURATED 5
ENSP00000216797 NFKBIA DOID:0081077 Ectodermal dysplasia and immune deficiency MedlinePlus CURATED 5
ENSP00000216832 PNN DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000216911 AURKA DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000217086 SALL4 DOID:0060747 Duane-radial ray syndrome MedlinePlus CURATED 5
ENSP00000217086 SALL4 DOID:12270 Coloboma MedlinePlus CURATED 5
ENSP00000217086 SALL4 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000217182 EEF1A2 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000217260 RSPO4 DOID:0080082 Nonsyndromic congenital nail disorder 4 MedlinePlus CURATED 5
ENSP00000217270 PROKR2 DOID:0060857 Septooptic dysplasia MedlinePlus CURATED 5
ENSP00000217270 PROKR2 DOID:1921 Klinefelter syndrome UniProtKB-KW CURATED 4
ENSP00000217270 PROKR2 DOID:3614 Kallmann syndrome MedlinePlus CURATED 5
ENSP00000217270 PROKR2 DOID:3614 Kallmann syndrome UniProtKB-KW CURATED 4
ENSP00000217270 PROKR2 DOID:9410 Panhypopituitarism MedlinePlus CURATED 5
ENSP00000217289 FERMT1 DOID:0060472 Kindler syndrome MedlinePlus CURATED 5
ENSP00000217381 SNTA1 DOID:2843 Long QT syndrome MedlinePlus CURATED 5
ENSP00000217381 SNTA1 DOID:2843 Long QT syndrome UniProtKB-KW CURATED 4
ENSP00000217402 CHMP4B DOID:83 Cataract UniProtKB-KW CURATED 4
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ENSP00000233838 GGCX DOID:0080666 Warfarin sensitivity MedlinePlus CURATED 5
ENSP00000234071 PROC DOID:2452 Thrombophilia UniProtKB-KW CURATED 4
ENSP00000234071 PROC DOID:3756 Protein C deficiency MedlinePlus CURATED 5
ENSP00000234111 ODC1 DOID:4535 Hypotrichosis UniProtKB-KW CURATED 4
ENSP00000234256 SLC1A4 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000234371 KISS1R DOID:0112308 Central precocious puberty MedlinePlus CURATED 5
ENSP00000234371 KISS1R DOID:1921 Klinefelter syndrome UniProtKB-KW CURATED 4
ENSP00000234420 MSH6 DOID:0112182 Mismatch repair cancer syndrome MedlinePlus CURATED 5
ENSP00000234420 MSH6 DOID:2394 Ovarian cancer MedlinePlus CURATED 5
ENSP00000234420 MSH6 DOID:3883 Lynch syndrome MedlinePlus CURATED 5
ENSP00000234420 MSH6 DOID:3883 Lynch syndrome UniProtKB-KW CURATED 4
ENSP00000234454 SPR DOID:0111168 Sepiapterin reductase deficiency MedlinePlus CURATED 5
ENSP00000234454 SPR DOID:543 Dystonia UniProtKB-KW CURATED 4
ENSP00000234488 CLCN6 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000234739 BCL9 DOID:0060411 Chromosome 1q21.1 deletion syndrome MedlinePlus CURATED 5
ENSP00000234739 BCL9 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000234961 OPRD1 DOID:2559 Opiate dependence MedlinePlus CURATED 5
ENSP00000235310 MAD2L2 DOID:13636 Fanconi anemia UniProtKB-KW CURATED 4
ENSP00000235521 WARS2 DOID:14330 Parkinson's disease UniProtKB-KW CURATED 4
ENSP00000235521 WARS2 DOID:543 Dystonia UniProtKB-KW CURATED 4
ENSP00000236040 P3H1 DOID:12347 Osteogenesis imperfecta MedlinePlus CURATED 5
ENSP00000236040 P3H1 DOID:12347 Osteogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000236137 SLC19A2 DOID:0090117 thiamine-responsive megaloblastic anemia syndrome MedlinePlus CURATED 5
ENSP00000236137 SLC19A2 DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000236671 CTSD DOID:0110725 Neuronal ceroid lipofuscinosis 10 MedlinePlus CURATED 5
ENSP00000236671 CTSD DOID:10652 Alzheimer's disease AmyCo CURATED 4
ENSP00000236671 CTSD DOID:10652 Alzheimer's disease UniProtKB-KW CURATED 4
ENSP00000236671 CTSD DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000236671 CTSD DOID:14503 Neuronal ceroid lipofuscinosis UniProtKB-KW CURATED 4
ENSP00000236850 APOA1 AmyCo:16 Localized insulin-derived Amyloidosis AmyCo CURATED 4
ENSP00000236850 APOA1 AmyCo:17 Apolipoprotein A-I associated Amyloidosis AmyCo CURATED 4
ENSP00000236850 APOA1 AmyCo:26 Apolipoprotein C-III associated Amyloidosis AmyCo CURATED 4
ENSP00000236850 APOA1 AmyCo:63 Enfuvirtide-induced Amyloidosis AmyCo CURATED 4
ENSP00000236850 APOA1 DOID:0080957 Primary hypoalphalipoproteinemia 1 MedlinePlus CURATED 5
ENSP00000236850 APOA1 DOID:1936 Atherosclerosis UniProtKB-KW CURATED 4
ENSP00000236850 APOA1 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000236850 APOA1 DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000236959 ATIC DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000237014 TTR AmyCo:17 Apolipoprotein A-I associated Amyloidosis AmyCo CURATED 4
ENSP00000237014 TTR AmyCo:30 Wild-type transthyretin-related Amyloidosis AmyCo CURATED 4
ENSP00000237014 TTR DOID:0050638 Transthyretin amyloidosis AmyCo CURATED 4
ENSP00000237014 TTR DOID:0050638 Transthyretin amyloidosis MedlinePlus CURATED 5
ENSP00000237014 TTR DOID:12169 Carpal tunnel syndrome MedlinePlus CURATED 5
ENSP00000237014 TTR DOID:12894 Sjogren's syndrome AmyCo CURATED 3
ENSP00000237014 TTR DOID:7148 Rheumatoid arthritis AmyCo CURATED 3
ENSP00000237014 TTR DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000237014 TTR DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000237596 PKD2 DOID:0080322 Polycystic kidney disease MedlinePlus CURATED 5
ENSP00000237837 FGF23 DOID:0050336 Hypophosphatemia MedlinePlus CURATED 5
ENSP00000237837 FGF23 DOID:0111063 Hyperphosphatemic familial tumoral calcinosis MedlinePlus CURATED 5
ENSP00000237837 FGF23 DOID:585 Nephrolithiasis MedlinePlus CURATED 5
ENSP00000238112 CPSF3 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000238628 IFT43 DOID:0050577 Cranioectodermal dysplasia MedlinePlus CURATED 5
ENSP00000238647 IRF2BPL DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000238682 TGFB3 DOID:0050431 Arrhythmogenic right ventricular cardiomyopathy MedlinePlus CURATED 5
ENSP00000238682 TGFB3 DOID:0050466 Loeys-Dietz syndrome MedlinePlus CURATED 5
ENSP00000238682 TGFB3 DOID:0050700 Cardiomyopathy UniProtKB-KW CURATED 4
ENSP00000239243 MSX2 DOID:0060285 Parietal foramina MedlinePlus CURATED 5
ENSP00000239243 MSX2 DOID:2340 Craniosynostosis UniProtKB-KW CURATED 4
ENSP00000239926 MYOT DOID:0080307 Myofibrillar myopathy MedlinePlus CURATED 5
ENSP00000239926 MYOT DOID:11724 limb-girdle muscular dystrophy MedlinePlus CURATED 5
ENSP00000239926 MYOT DOID:11724 limb-girdle muscular dystrophy UniProtKB-KW CURATED 4
ENSP00000239926 MYOT DOID:423 Myopathy UniProtKB-KW CURATED 4
ENSP00000240185 TARDBP DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000240185 TARDBP DOID:332 Amyotrophic lateral sclerosis MedlinePlus CURATED 5
ENSP00000240185 TARDBP DOID:332 Amyotrophic lateral sclerosis UniProtKB-KW CURATED 4
ENSP00000240423 NCAPH DOID:10907 Microcephaly UniProtKB-KW CURATED 4
ENSP00000240618 KLRK1 DOID:986 Alopecia areata MedlinePlus CURATED 5
ENSP00000240651 PYROXD1 DOID:11724 limb-girdle muscular dystrophy UniProtKB-KW CURATED 4
ENSP00000240651 PYROXD1 DOID:423 Myopathy UniProtKB-KW CURATED 4
ENSP00000240652 IAPP DOID:9352 Type 2 diabetes mellitus AmyCo CURATED 4
ENSP00000240851 TFG DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000240851 TFG DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000240851 TFG DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000240851 TFG DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000241014 MAPK8IP1 DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000241041 PEX16 DOID:905 Zellweger syndrome MedlinePlus CURATED 5
ENSP00000241041 PEX16 DOID:906 Peroxisomal disease UniProtKB-KW CURATED 4
ENSP00000241052 CAT DOID:2582 Acatalasia MedlinePlus CURATED 5
ENSP00000241125 GJA3 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000241453 FLT3 DOID:0080796 Core binding factor acute myeloid leukemia MedlinePlus CURATED 5
ENSP00000241453 FLT3 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000242057 AHR DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000242067 BBS9 DOID:1935 Bardet-Biedl syndrome MedlinePlus CURATED 5
ENSP00000242067 BBS9 DOID:1935 Bardet-Biedl syndrome UniProtKB-KW CURATED 4
ENSP00000242067 BBS9 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000242261 TWIST1 DOID:14768 Saethre-Chotzen syndrome MedlinePlus CURATED 5
ENSP00000242261 TWIST1 DOID:2340 Craniosynostosis UniProtKB-KW CURATED 4
ENSP00000242375 AKR1D1 DOID:0111069 Congenital bile acid synthesis defect 2 MedlinePlus CURATED 5
ENSP00000242375 AKR1D1 DOID:1852 Intrahepatic cholestasis UniProtKB-KW CURATED 4
ENSP00000242480 EGR2 DOID:0050540 Charcot-Marie-Tooth disease type 3 UniProtKB-KW CURATED 4
ENSP00000242480 EGR2 DOID:10595 Charcot-Marie-Tooth disease MedlinePlus CURATED 5
ENSP00000242480 EGR2 DOID:10595 Charcot-Marie-Tooth disease UniProtKB-KW CURATED 4
ENSP00000242480 EGR2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000242480 EGR2 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000242592 ACADS DOID:0080154 Short chain acyl-CoA dehydrogenase deficiency MedlinePlus CURATED 5
ENSP00000242839 ATP7B DOID:893 Wilson disease MedlinePlus CURATED 5
ENSP00000243344 TTC21B DOID:0050592 Asphyxiating thoracic dystrophy MedlinePlus CURATED 5
ENSP00000243344 TTC21B DOID:0050777 Joubert syndrome MedlinePlus CURATED 5
ENSP00000243344 TTC21B DOID:12712 Nephronophthisis MedlinePlus CURATED 5
ENSP00000243344 TTC21B DOID:12712 Nephronophthisis UniProtKB-KW CURATED 4
ENSP00000243344 TTC21B DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000243457 KCNJ2 DOID:0050434 Andersen-Tawil syndrome MedlinePlus CURATED 5
ENSP00000243457 KCNJ2 DOID:0050650 Familial atrial fibrillation MedlinePlus CURATED 5
ENSP00000243457 KCNJ2 DOID:0050650 Familial atrial fibrillation UniProtKB-KW CURATED 4
ENSP00000243457 KCNJ2 DOID:0050793 Short QT syndrome MedlinePlus CURATED 5
ENSP00000243457 KCNJ2 DOID:2843 Long QT syndrome UniProtKB-KW CURATED 4
ENSP00000243578 B9D2 DOID:0050777 Joubert syndrome MedlinePlus CURATED 5
ENSP00000243578 B9D2 DOID:0050778 Meckel syndrome MedlinePlus CURATED 5
ENSP00000244043 PTGIS DOID:10763 Hypertension MedlinePlus CURATED 5
ENSP00000244137 PEPD DOID:0111540 Prolidase deficiency MedlinePlus CURATED 5
ENSP00000244217 MCEE DOID:14749 Methylmalonic acidemia MedlinePlus CURATED 5
ENSP00000244289 LIPE DOID:0050440 Familial partial lipodystrophy MedlinePlus CURATED 5
ENSP00000244289 LIPE DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000244289 LIPE DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000244571 AARS2 DOID:0050700 Cardiomyopathy UniProtKB-KW CURATED 4
ENSP00000244571 AARS2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000244571 AARS2 DOID:5426 Primary ovarian insufficiency UniProtKB-KW CURATED 4
ENSP00000244745 SOX4 DOID:1925 Coffin-Siris syndrome MedlinePlus CURATED 5
ENSP00000244769 ATXN1 DOID:0050954 Spinocerebellar ataxia type 1 MedlinePlus CURATED 5
ENSP00000244769 ATXN1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000244769 ATXN1 DOID:1441 Autosomal dominant cerebellar ataxia UniProtKB-KW CURATED 4
ENSP00000245121 KATNAL2 DOID:0060041 Autism spectrum disorder MedlinePlus CURATED 5
ENSP00000245157 BBS2 DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000245157 BBS2 DOID:1935 Bardet-Biedl syndrome MedlinePlus CURATED 5
ENSP00000245157 BBS2 DOID:1935 Bardet-Biedl syndrome UniProtKB-KW CURATED 4
ENSP00000245157 BBS2 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000245206 GOT2 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000245414 IRF1 DOID:1324 Lung cancer MedlinePlus CURATED 5
ENSP00000245414 IRF1 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000245451 BMP4 DOID:0080205 CAKUT MedlinePlus CURATED 5
ENSP00000245451 BMP4 DOID:10629 Microphthalmia MedlinePlus CURATED 5
ENSP00000245451 BMP4 DOID:10629 Microphthalmia UniProtKB-KW CURATED 4
ENSP00000245451 BMP4 DOID:12270 Coloboma MedlinePlus CURATED 5
ENSP00000245479 SOX9 DOID:0050463 Campomelic dysplasia MedlinePlus CURATED 5
ENSP00000245479 SOX9 DOID:0111760 46,XX sex reversal MedlinePlus CURATED 5
ENSP00000245479 SOX9 DOID:14448 46,XY sex reversal MedlinePlus CURATED 5
ENSP00000245615 MBOAT7 DOID:0080208 non-alcoholic fatty liver disease MedlinePlus CURATED 5
ENSP00000245816 CLPP DOID:0050857 Perrault syndrome MedlinePlus CURATED 5
ENSP00000245907 C3 DOID:0050637 Finnish type amyloidosis AmyCo CURATED 4
ENSP00000245907 C3 DOID:0080301 Atypical hemolytic-uremic syndrome MedlinePlus CURATED 5
ENSP00000245907 C3 DOID:10871 Age related macular degeneration MedlinePlus CURATED 5
ENSP00000245907 C3 DOID:10871 Age related macular degeneration UniProtKB-KW CURATED 4
ENSP00000245907 C3 DOID:11949 Creutzfeldt-Jakob disease AmyCo CURATED 4
ENSP00000245907 C3 DOID:12554 hemolytic-uremic syndrome UniProtKB-KW CURATED 4
ENSP00000245923 RTN2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000245923 RTN2 DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000246062 MKKS DOID:0111255 McKusick-Kaufman syndrome MedlinePlus CURATED 5
ENSP00000246062 MKKS DOID:1935 Bardet-Biedl syndrome MedlinePlus CURATED 5
ENSP00000246062 MKKS DOID:1935 Bardet-Biedl syndrome UniProtKB-KW CURATED 4
ENSP00000246062 MKKS DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000246337 UROD DOID:13268 Porphyria MedlinePlus CURATED 5
ENSP00000246515 SLURP1 DOID:0060862 Mal de Meleda MedlinePlus CURATED 5
ENSP00000246515 SLURP1 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000246635 KRT13 DOID:0050448 Hereditary mucosal leukokeratosis MedlinePlus CURATED 5
ENSP00000246662 KRT9 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000246747 ARL2 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000246792 RRAS DOID:3490 Noonan syndrome MedlinePlus CURATED 5
ENSP00000246868 SBDS DOID:0060479 Shwachman-Diamond syndrome MedlinePlus CURATED 5
ENSP00000247005 GDF1 DOID:0060856 Right atrial isomerism MedlinePlus CURATED 5
ENSP00000247026 NSRP1 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000247270 EVI2A DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000247470 PYCARD DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000247933 IDUA DOID:12798 Mucopolysaccharidosis UniProtKB-KW CURATED 4
ENSP00000247933 IDUA DOID:12802 Mucopolysaccharidosis I MedlinePlus CURATED 5
ENSP00000248114 GFER DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000248437 TUBA4A DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000248437 TUBA4A DOID:332 Amyotrophic lateral sclerosis MedlinePlus CURATED 5
ENSP00000248437 TUBA4A DOID:332 Amyotrophic lateral sclerosis UniProtKB-KW CURATED 4
ENSP00000248553 HSPB1 DOID:10595 Charcot-Marie-Tooth disease MedlinePlus CURATED 5
ENSP00000248553 HSPB1 DOID:10595 Charcot-Marie-Tooth disease UniProtKB-KW CURATED 4
ENSP00000248553 HSPB1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000248553 HSPB1 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000248633 PEX1 DOID:2187 Amelogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000248633 PEX1 DOID:905 Zellweger syndrome MedlinePlus CURATED 5
ENSP00000248633 PEX1 DOID:906 Peroxisomal disease UniProtKB-KW CURATED 4
ENSP00000249269 PMPCB DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000249284 TAS2R16 DOID:1574 Alcohol use disorder MedlinePlus CURATED 5
ENSP00000249389 OPN1SW DOID:13399 Color blindness MedlinePlus CURATED 5
ENSP00000249396 SIRT2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000249749 DLL4 DOID:0060227 Adams-Oliver syndrome MedlinePlus CURATED 5
ENSP00000249750 ALDH1A2 DOID:8398 Osteoarthritis MedlinePlus CURATED 5
ENSP00000249806 CLN6 DOID:0110729 Neuronal ceroid lipofuscinosis 6A MedlinePlus CURATED 5
ENSP00000249806 CLN6 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000249806 CLN6 DOID:14503 Neuronal ceroid lipofuscinosis UniProtKB-KW CURATED 4
ENSP00000249923 COPB1 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000250124 MPDU1 DOID:5212 Congenital disorder of glycosylation UniProtKB-KW CURATED 4
ENSP00000250160 CCN4 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000250615 AANAT DOID:0060318 Acute promyelocytic leukemia MedlinePlus CURATED 5
ENSP00000250615 AANAT DOID:0060394 Chromosome 15q13.3 microdeletion syndrome MedlinePlus CURATED 5
ENSP00000250615 AANAT DOID:0060395 Chromosome 15q24 deletion syndrome MedlinePlus CURATED 5
ENSP00000250615 AANAT DOID:11983 Prader-Willi syndrome MedlinePlus CURATED 5
ENSP00000250615 AANAT DOID:1932 Angelman syndrome MedlinePlus CURATED 5
ENSP00000251020 SALL1 DOID:0050887 Townes-Brocks syndrome MedlinePlus CURATED 5
ENSP00000251020 SALL1 DOID:0080205 CAKUT MedlinePlus CURATED 5
ENSP00000251020 SALL1 DOID:12270 Coloboma MedlinePlus CURATED 5
ENSP00000251102 CNGB1 DOID:10584 Retinitis pigmentosa MedlinePlus CURATED 5
ENSP00000251102 CNGB1 DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000251119 ZFYVE26 DOID:0110768 Hereditary spastic paraplegia 15 MedlinePlus CURATED 5
ENSP00000251119 ZFYVE26 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000251119 ZFYVE26 DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000251127 NALCN DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000251157 DOCK7 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000251268 MEGF8 DOID:0060234 Carpenter syndrome MedlinePlus CURATED 5
ENSP00000251268 MEGF8 DOID:2340 Craniosynostosis UniProtKB-KW CURATED 4
ENSP00000251287 HCN2 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000251337 GNAT2 DOID:13911 Achromatopsia MedlinePlus CURATED 5
ENSP00000251413 TUBG1 DOID:0050453 Lissencephaly UniProtKB-KW CURATED 4
ENSP00000251472 MAST1 DOID:0060426 Chromosome 19p13.13 deletion syndrome MedlinePlus CURATED 5
ENSP00000251582 ADAMTS2 DOID:13359 Ehlers-Danlos syndrome MedlinePlus CURATED 5
ENSP00000251582 ADAMTS2 DOID:13359 Ehlers-Danlos syndrome UniProtKB-KW CURATED 4
ENSP00000251595 HBA2 DOID:1099 Alpha thalassemia MedlinePlus CURATED 5
ENSP00000251595 HBA2 DOID:589 Congenital hemolytic anemia UniProtKB-KW CURATED 4
ENSP00000251607 TRNT1 DOID:0080209 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MedlinePlus CURATED 5
ENSP00000251607 TRNT1 DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000251643 KRT12 DOID:0060451 Meesmann corneal dystrophy MedlinePlus CURATED 5
ENSP00000251810 RRM2B DOID:0080123 Mitochondrial DNA depletion syndrome 4b MedlinePlus CURATED 5
ENSP00000251810 RRM2B DOID:0080127 Mitochondrial DNA depletion syndrome 8a MedlinePlus CURATED 5
ENSP00000251810 RRM2B DOID:12558 Chronic progressive external ophthalmoplegia MedlinePlus CURATED 5
ENSP00000251810 RRM2B DOID:12558 Chronic progressive external ophthalmoplegia UniProtKB-KW CURATED 4
ENSP00000251810 RRM2B DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000252037 FKBP6 DOID:1928 Williams-Beuren syndrome MedlinePlus CURATED 5
ENSP00000252102 NDUFA2 DOID:0060536 Mitochondrial complex I deficiency MedlinePlus CURATED 5
ENSP00000252102 NDUFA2 DOID:3652 Leigh disease MedlinePlus CURATED 5
ENSP00000252242 KRT5 DOID:0050430 Multiple endocrine neoplasia type 2A AmyCo CURATED 2
ENSP00000252242 KRT5 DOID:0050639 Primary cutaneous amyloidosis AmyCo CURATED 4
ENSP00000252242 KRT5 DOID:0060256 Dowling-Degos disease MedlinePlus CURATED 5
ENSP00000252242 KRT5 DOID:2513 Basal cell carcinoma AmyCo CURATED 4
ENSP00000252242 KRT5 DOID:2730 Epidermolysis bullosa UniProtKB-KW CURATED 4
ENSP00000252242 KRT5 DOID:4644 Epidermolysis bullosa simplex MedlinePlus CURATED 5
ENSP00000252242 KRT5 DOID:6498 Seborrheic keratosis AmyCo CURATED 4
ENSP00000252242 KRT5 DOID:7039 Borst-Jadassohn intraepidermal carcinoma AmyCo CURATED 3
ENSP00000252242 KRT5 DOID:8691 Mycosis fungoides AmyCo CURATED 3
ENSP00000252244 KRT1 DOID:0050430 Multiple endocrine neoplasia type 2A AmyCo CURATED 2
ENSP00000252244 KRT1 DOID:0050639 Primary cutaneous amyloidosis AmyCo CURATED 4
ENSP00000252244 KRT1 DOID:2513 Basal cell carcinoma AmyCo CURATED 4
ENSP00000252244 KRT1 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000252244 KRT1 DOID:4603 Epidermolytic hyperkeratosis MedlinePlus CURATED 5
ENSP00000252244 KRT1 DOID:6498 Seborrheic keratosis AmyCo CURATED 4
ENSP00000252244 KRT1 DOID:7039 Borst-Jadassohn intraepidermal carcinoma AmyCo CURATED 3
ENSP00000252244 KRT1 DOID:8691 Mycosis fungoides AmyCo CURATED 3
ENSP00000252250 KRT6C DOID:0050449 Pachyonychia congenita MedlinePlus CURATED 5
ENSP00000252250 KRT6C DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000252252 KRT6B DOID:0050449 Pachyonychia congenita MedlinePlus CURATED 5
ENSP00000252252 KRT6B DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000252268 DPF2 DOID:1925 Coffin-Siris syndrome MedlinePlus CURATED 5
ENSP00000252321 KCNA5 DOID:0050650 Familial atrial fibrillation MedlinePlus CURATED 5
ENSP00000252321 KCNA5 DOID:0050650 Familial atrial fibrillation UniProtKB-KW CURATED 4
ENSP00000252321 KCNA5 DOID:14557 Primary pulmonary hypertension MedlinePlus CURATED 5
ENSP00000252486 APOE AmyCo:16 Localized insulin-derived Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:22 Apolipoprotein A-II associated Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:23 AH Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:24 AHL Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:25 Apolipoprotein C-II associated Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:26 Apolipoprotein C-III associated Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:27 Leukocyte chemotactic factor 2 Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:28 Apolipoprotein A-IV associated Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:29 AA Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:33 Wild type beta-2-microglobulin-related Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:63 Enfuvirtide-induced Amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE AmyCo:8 Immunoglobulin light chain (AL) amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE DOID:0050637 Finnish type amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE DOID:0050639 Primary cutaneous amyloidosis AmyCo CURATED 4
ENSP00000252486 APOE DOID:0060449 Gelatinous drop-like corneal dystrophy AmyCo CURATED 4
ENSP00000252486 APOE DOID:0070028 APP-related cerebral amyloid angiopathy AmyCo CURATED 4
ENSP00000252486 APOE DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 AmyCo CURATED 4
ENSP00000252486 APOE DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 AmyCo CURATED 4
ENSP00000252486 APOE DOID:10652 Alzheimer's disease AmyCo CURATED 4
ENSP00000252486 APOE DOID:10652 Alzheimer's disease MedlinePlus CURATED 5
ENSP00000252486 APOE DOID:10652 Alzheimer's disease UniProtKB-KW CURATED 4
ENSP00000252486 APOE DOID:10871 Age related macular degeneration MedlinePlus CURATED 5
ENSP00000252486 APOE DOID:1168 Familial hyperlipidemia UniProtKB-KW CURATED 4
ENSP00000252486 APOE DOID:11949 Creutzfeldt-Jakob disease AmyCo CURATED 4
ENSP00000252486 APOE DOID:12217 Lewy body dementia MedlinePlus CURATED 5
ENSP00000252486 APOE DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000252486 APOE DOID:14250 Down syndrome AmyCo CURATED 3
ENSP00000252486 APOE DOID:3973 Thyroid gland medullary carcinoma AmyCo CURATED 4
ENSP00000252486 APOE DOID:8943 Lattice corneal dystrophy AmyCo CURATED 4
ENSP00000252486 APOE DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000252486 APOE DOID:9352 Type 2 diabetes mellitus AmyCo CURATED 4
ENSP00000252655 RSPH3 DOID:9562 Primary ciliary dyskinesia UniProtKB-KW CURATED 4
ENSP00000252674 MLLT1 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000252677 BMP15 DOID:5426 Primary ovarian insufficiency UniProtKB-KW CURATED 4
ENSP00000252711 NDUFA10 DOID:0060536 Mitochondrial complex I deficiency MedlinePlus CURATED 5
ENSP00000252711 NDUFA10 DOID:3652 Leigh disease MedlinePlus CURATED 5
ENSP00000252723 EPO DOID:10780 Primary polycythemia UniProtKB-KW CURATED 4
ENSP00000252826 TRPM4 DOID:0050451 Brugada syndrome MedlinePlus CURATED 5
ENSP00000252826 TRPM4 DOID:0111073 Progressive familial heart block MedlinePlus CURATED 5
ENSP00000252826 TRPM4 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000252934 ATXN10 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000252951 HBZ AmyCo:17 Apolipoprotein A-I associated Amyloidosis AmyCo CURATED 4
ENSP00000253008 PRDM12 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000253008 PRDM12 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000253039 EIF2S3 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000253039 EIF2S3 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000253122 SLC6A8 DOID:0050800 Creatine transporter deficiency MedlinePlus CURATED 5
ENSP00000253408 GFAP DOID:10579 Leukodystrophy UniProtKB-KW CURATED 4
ENSP00000253408 GFAP DOID:4252 Alexander disease MedlinePlus CURATED 5
ENSP00000253413 ATP6V1E1 DOID:3144 Cutis laxa MedlinePlus CURATED 5
ENSP00000253496 F12 DOID:14735 Hereditary angioedema MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:0050554 X-linked sideroblastic anemia with ataxia MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:0060436 Chromosome 22q11.2 microduplication syndrome MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:0080354 Phelan-McDermid syndrome MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:0080697 Opitz GBBB syndrome MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:11198 DiGeorge syndrome MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:3369 Ewing sarcoma MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:3507 Dermatofibrosarcoma protuberans MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:5419 Schizophrenia MedlinePlus CURATED 5
ENSP00000253577 ABCB7 DOID:8552 Chronic myeloid leukemia MedlinePlus CURATED 5
ENSP00000253801 G6PC DOID:2747 Glycogen storage disease UniProtKB-KW CURATED 4
ENSP00000253801 G6PC DOID:2749 Glycogen storage disease I MedlinePlus CURATED 5
ENSP00000254066 RARA DOID:0060318 Acute promyelocytic leukemia MedlinePlus CURATED 5
ENSP00000254066 RARA DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000254090 FMO5 DOID:0060411 Chromosome 1q21.1 deletion syndrome MedlinePlus CURATED 5
ENSP00000254101 PRKAB2 DOID:0060411 Chromosome 1q21.1 deletion syndrome MedlinePlus CURATED 5
ENSP00000254108 FUS DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000254108 FUS DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000254108 FUS DOID:332 Amyotrophic lateral sclerosis MedlinePlus CURATED 5
ENSP00000254108 FUS DOID:332 Amyotrophic lateral sclerosis UniProtKB-KW CURATED 4
ENSP00000254108 FUS DOID:3369 Ewing sarcoma MedlinePlus CURATED 5
ENSP00000254227 NR0B2 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000254250 THAP1 DOID:0090039 Torsion dystonia 6 MedlinePlus CURATED 5
ENSP00000254250 THAP1 DOID:543 Dystonia UniProtKB-KW CURATED 4
ENSP00000254657 PER2 DOID:0060167 Seasonal affective disorder MedlinePlus CURATED 5
ENSP00000254722 SERPINF1 DOID:12347 Osteogenesis imperfecta MedlinePlus CURATED 5
ENSP00000254722 SERPINF1 DOID:12347 Osteogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000254765 POPDC3 DOID:11724 limb-girdle muscular dystrophy UniProtKB-KW CURATED 4
ENSP00000254854 GUCY2D DOID:0050534 Congenital stationary night blindness UniProtKB-KW CURATED 4
ENSP00000254854 GUCY2D DOID:0050572 cone-rod dystrophy MedlinePlus CURATED 5
ENSP00000254854 GUCY2D DOID:0050572 cone-rod dystrophy UniProtKB-KW CURATED 4
ENSP00000254854 GUCY2D DOID:14791 Leber congenital amaurosis MedlinePlus CURATED 5
ENSP00000254854 GUCY2D DOID:14791 Leber congenital amaurosis UniProtKB-KW CURATED 4
ENSP00000254950 VPS4A DOID:1338 Congenital dyserythropoietic anemia UniProtKB-KW CURATED 4
ENSP00000254950 VPS4A DOID:589 Congenital hemolytic anemia UniProtKB-KW CURATED 4
ENSP00000254950 VPS4A DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000254958 JAG1 DOID:10595 Charcot-Marie-Tooth disease UniProtKB-KW CURATED 4
ENSP00000254958 JAG1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000254958 JAG1 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000254958 JAG1 DOID:9245 Alagille syndrome MedlinePlus CURATED 5
ENSP00000254976 SNAP25 DOID:3635 Congenital myasthenic syndrome UniProtKB-KW CURATED 4
ENSP00000255030 CRP DOID:9074 Systemic lupus erythematosus MedlinePlus CURATED 5
ENSP00000255040 APCS AmyCo:16 Localized insulin-derived Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:17 Apolipoprotein A-I associated Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:22 Apolipoprotein A-II associated Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:23 AH Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:24 AHL Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:25 Apolipoprotein C-II associated Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:26 Apolipoprotein C-III associated Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:27 Leukocyte chemotactic factor 2 Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:28 Apolipoprotein A-IV associated Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:29 AA Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:33 Wild type beta-2-microglobulin-related Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:63 Enfuvirtide-induced Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:67 PrP Systemic Amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS AmyCo:8 Immunoglobulin light chain (AL) amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS DOID:0050637 Finnish type amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS DOID:0050639 Primary cutaneous amyloidosis AmyCo CURATED 4
ENSP00000255040 APCS DOID:0070027 CST3-related cerebral amyloid angiopathy AmyCo CURATED 4
ENSP00000255040 APCS DOID:0070028 APP-related cerebral amyloid angiopathy AmyCo CURATED 4
ENSP00000255040 APCS DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 AmyCo CURATED 4
ENSP00000255040 APCS DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 AmyCo CURATED 4
ENSP00000255040 APCS DOID:0110699 Hypotrichosis 2 AmyCo CURATED 4
ENSP00000255040 APCS DOID:10652 Alzheimer's disease AmyCo CURATED 4
ENSP00000255040 APCS DOID:11949 Creutzfeldt-Jakob disease AmyCo CURATED 4
ENSP00000255040 APCS DOID:3973 Thyroid gland medullary carcinoma AmyCo CURATED 4
ENSP00000255040 APCS DOID:9352 Type 2 diabetes mellitus AmyCo CURATED 4
ENSP00000255078 IGHMBP2 DOID:0111064 Distal spinal muscular atrophy 1 MedlinePlus CURATED 5
ENSP00000255078 IGHMBP2 DOID:10595 Charcot-Marie-Tooth disease MedlinePlus CURATED 5
ENSP00000255078 IGHMBP2 DOID:10595 Charcot-Marie-Tooth disease UniProtKB-KW CURATED 4
ENSP00000255078 IGHMBP2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000255078 IGHMBP2 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000255108 DPH2 DOID:4535 Hypotrichosis UniProtKB-KW CURATED 4
ENSP00000255194 AP3B1 DOID:3753 Hermansky-Pudlak syndrome MedlinePlus CURATED 5
ENSP00000255194 AP3B1 DOID:3753 Hermansky-Pudlak syndrome UniProtKB-KW CURATED 4
ENSP00000255266 PDE6A DOID:10584 Retinitis pigmentosa MedlinePlus CURATED 5
ENSP00000255266 PDE6A DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000255390 SCO1 DOID:3762 cytochrome-c oxidase deficiency disease MedlinePlus CURATED 5
ENSP00000255409 CHI3L1 DOID:2841 Asthma UniProtKB-KW CURATED 4
ENSP00000255476 RFXAP DOID:5812 MHC class II deficiency MedlinePlus CURATED 5
ENSP00000255476 RFXAP DOID:627 Severe combined immunodeficiency UniProtKB-KW CURATED 4
ENSP00000255784 CCDC134 DOID:12347 Osteogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000255882 PI4KA DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000255882 PI4KA DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000256015 BTG1 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000256078 KRAS DOID:0050700 Cardiomyopathy UniProtKB-KW CURATED 4
ENSP00000256078 KRAS DOID:0060233 Cardiofaciocutaneous syndrome MedlinePlus CURATED 5
ENSP00000256078 KRAS DOID:0080796 Core binding factor acute myeloid leukemia MedlinePlus CURATED 5
ENSP00000256078 KRAS DOID:0111162 Epidermal nevus MedlinePlus CURATED 5
ENSP00000256078 KRAS DOID:1324 Lung cancer MedlinePlus CURATED 5
ENSP00000256078 KRAS DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000256078 KRAS DOID:3490 Noonan syndrome MedlinePlus CURATED 5
ENSP00000256078 KRAS DOID:4947 Cholangiocarcinoma MedlinePlus CURATED 5
ENSP00000256078 KRAS DOID:6688 Autoimmune lymphoproliferative syndrome MedlinePlus CURATED 5
ENSP00000256079 IPO8 DOID:3627 Aortic aneurysm UniProtKB-KW CURATED 4
ENSP00000256103 PMP2 DOID:10595 Charcot-Marie-Tooth disease UniProtKB-KW CURATED 4
ENSP00000256103 PMP2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000256103 PMP2 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000256190 SBF2 DOID:10595 Charcot-Marie-Tooth disease MedlinePlus CURATED 5
ENSP00000256190 SBF2 DOID:10595 Charcot-Marie-Tooth disease UniProtKB-KW CURATED 4
ENSP00000256190 SBF2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000256190 SBF2 DOID:870 Neuropathy UniProtKB-KW CURATED 4
ENSP00000256196 RRAS2 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000256398 ELP3 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000256398 ELP3 DOID:332 Amyotrophic lateral sclerosis UniProtKB-KW CURATED 4
ENSP00000256433 IER3IP1 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000256433 IER3IP1 DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000256474 VHL DOID:0050773 Paraganglioma MedlinePlus CURATED 5
ENSP00000256474 VHL DOID:10780 Primary polycythemia MedlinePlus CURATED 5
ENSP00000256474 VHL DOID:10780 Primary polycythemia UniProtKB-KW CURATED 4
ENSP00000256474 VHL DOID:14175 Von Hippel-Lindau disease MedlinePlus CURATED 5
ENSP00000256474 VHL DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000256592 TSHB DOID:0050328 Congenital hypothyroidism MedlinePlus CURATED 5
ENSP00000256592 TSHB DOID:0050328 Congenital hypothyroidism UniProtKB-KW CURATED 4
ENSP00000256646 NOTCH2 DOID:2736 Hajdu-Cheney syndrome MedlinePlus CURATED 5
ENSP00000256646 NOTCH2 DOID:9245 Alagille syndrome MedlinePlus CURATED 5
ENSP00000256707 KIDINS220 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000256707 KIDINS220 DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4
ENSP00000256707 KIDINS220 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000256737 ANO3 DOID:543 Dystonia UniProtKB-KW CURATED 4
ENSP00000256785 CFHR5 DOID:0080301 Atypical hemolytic-uremic syndrome MedlinePlus CURATED 5
ENSP00000256785 CFHR5 DOID:10871 Age related macular degeneration MedlinePlus CURATED 5
ENSP00000256785 CFHR5 DOID:12554 hemolytic-uremic syndrome UniProtKB-KW CURATED 4
ENSP00000256854 NARS1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000256854 NARS1 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000256996 DDB2 DOID:0050427 Xeroderma pigmentosum MedlinePlus CURATED 5
ENSP00000257068 MTNR1B DOID:11714 Gestational diabetes MedlinePlus CURATED 5
ENSP00000257192 DSG1 DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000257192 DSG1 DOID:4535 Hypotrichosis UniProtKB-KW CURATED 4
ENSP00000257215 DAGLA DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000257215 DAGLA DOID:1441 Autosomal dominant cerebellar ataxia UniProtKB-KW CURATED 4
ENSP00000257287 CEP135 DOID:10907 Microcephaly UniProtKB-KW CURATED 4
ENSP00000257290 PDGFRA DOID:0080165 Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement MedlinePlus CURATED 5
ENSP00000257290 PDGFRA DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000257290 PDGFRA DOID:9253 Gastrointestinal stromal tumor MedlinePlus CURATED 5
ENSP00000257430 APC DOID:0050424 Familial adenomatous polyposis MedlinePlus CURATED 5
ENSP00000257430 APC DOID:0080366 Desmoid tumor MedlinePlus CURATED 5
ENSP00000257430 APC DOID:0111622 ACTH-independent macronodular adrenal hyperplasia MedlinePlus CURATED 5
ENSP00000257430 APC DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000257776 MRAP2 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000257818 LMO2 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000257829 NAT10 DOID:0060856 Right atrial isomerism MedlinePlus CURATED 5
ENSP00000257860 PRPH DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000257860 PRPH DOID:332 Amyotrophic lateral sclerosis MedlinePlus CURATED 5
ENSP00000257860 PRPH DOID:332 Amyotrophic lateral sclerosis UniProtKB-KW CURATED 4
ENSP00000257863 AMHR2 DOID:3765 Pseudohermaphroditism UniProtKB-KW CURATED 4
ENSP00000257867 LACRT AmyCo:17 Apolipoprotein A-I associated Amyloidosis AmyCo CURATED 4
ENSP00000257895 RDH5 DOID:11105 Fundus albipunctatus MedlinePlus CURATED 5
ENSP00000257901 KRT85 DOID:4535 Hypotrichosis UniProtKB-KW CURATED 4
ENSP00000257904 CDK4 DOID:1909 Melanoma MedlinePlus CURATED 5
ENSP00000258080 HTRA2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000258080 HTRA2 DOID:14330 Parkinson's disease UniProtKB-KW CURATED 4
ENSP00000258080 HTRA2 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000258145 GNS DOID:12798 Mucopolysaccharidosis UniProtKB-KW CURATED 4
ENSP00000258145 GNS DOID:12801 Mucopolysaccharidosis III MedlinePlus CURATED 5
ENSP00000258149 MDM2 DOID:11054 Urinary bladder cancer MedlinePlus CURATED 5
ENSP00000258149 MDM2 DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000258173 TMEM231 DOID:0050777 Joubert syndrome MedlinePlus CURATED 5
ENSP00000258341 LAMC1 DOID:11555 Fuchs' endothelial dystrophy MedlinePlus CURATED 5
ENSP00000258381 SP110 DOID:0112254 Hepatic venoocclusive disease with immunodeficiency MedlinePlus CURATED 5
ENSP00000258385 CHRND DOID:0080110 Multiple pterygium syndrome MedlinePlus CURATED 5
ENSP00000258385 CHRND DOID:3635 Congenital myasthenic syndrome MedlinePlus CURATED 5
ENSP00000258385 CHRND DOID:3635 Congenital myasthenic syndrome UniProtKB-KW CURATED 4
ENSP00000258411 WNT10A DOID:10126 Keratoconus MedlinePlus CURATED 5
ENSP00000258411 WNT10A DOID:14793 Hypohidrotic ectodermal dysplasia MedlinePlus CURATED 5
ENSP00000258411 WNT10A DOID:3390 Palmoplantar keratosis UniProtKB-KW CURATED 4
ENSP00000258411 WNT10A DOID:4535 Hypotrichosis UniProtKB-KW CURATED 4
ENSP00000258415 CYP27A1 DOID:4810 Cerebrotendinous xanthomatosis MedlinePlus CURATED 5
ENSP00000258415 CYP27A1 DOID:83 Cataract UniProtKB-KW CURATED 4
ENSP00000258439 TMEM127 DOID:0050773 Paraganglioma MedlinePlus CURATED 5
ENSP00000258443 EDAR DOID:14793 Hypohidrotic ectodermal dysplasia MedlinePlus CURATED 5
ENSP00000258739 KDELR2 DOID:12347 Osteogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000258874 MTHFS DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000258886 IREB2 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000258888 ALPK3 DOID:0050700 Cardiomyopathy UniProtKB-KW CURATED 4
ENSP00000258930 CIB2 DOID:0050439 Usher syndrome MedlinePlus CURATED 5
ENSP00000258930 CIB2 DOID:0050563 Nonsyndromic deafness MedlinePlus CURATED 5
ENSP00000258930 CIB2 DOID:0050563 Nonsyndromic deafness UniProtKB-KW CURATED 4
ENSP00000258930 CIB2 DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000258975 TACO1 DOID:3652 Leigh disease MedlinePlus CURATED 5
ENSP00000258975 TACO1 DOID:3652 Leigh disease UniProtKB-KW CURATED 4
ENSP00000258975 TACO1 DOID:3762 cytochrome-c oxidase deficiency disease MedlinePlus CURATED 5
ENSP00000259008 BRIP1 DOID:13636 Fanconi anemia MedlinePlus CURATED 5
ENSP00000259008 BRIP1 DOID:13636 Fanconi anemia UniProtKB-KW CURATED 4
ENSP00000259008 BRIP1 DOID:1612 Breast cancer MedlinePlus CURATED 5
ENSP00000259008 BRIP1 DOID:2394 Ovarian cancer MedlinePlus CURATED 5
ENSP00000259089 BLK DOID:0050524 maturity-onset diabetes of the young MedlinePlus CURATED 5
ENSP00000259089 BLK DOID:418 Systemic scleroderma MedlinePlus CURATED 5
ENSP00000259089 BLK DOID:7148 Rheumatoid arthritis MedlinePlus CURATED 5
ENSP00000259089 BLK DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000259206 IL1RN DOID:10126 Keratoconus MedlinePlus CURATED 5
ENSP00000259206 IL1RN DOID:585 Nephrolithiasis MedlinePlus CURATED 5
ENSP00000259206 IL1RN DOID:986 Alopecia areata MedlinePlus CURATED 5
ENSP00000259216 CFC1 DOID:0050545 Visceral heterotaxy UniProtKB-KW CURATED 4
ENSP00000259216 CFC1 DOID:0060856 Right atrial isomerism MedlinePlus CURATED 5
ENSP00000259229 CCDC115 DOID:5212 Congenital disorder of glycosylation UniProtKB-KW CURATED 4
ENSP00000259241 HS6ST1 DOID:1921 Klinefelter syndrome UniProtKB-KW CURATED 4
ENSP00000259241 HS6ST1 DOID:3614 Kallmann syndrome MedlinePlus CURATED 5
ENSP00000259241 HS6ST1 DOID:3614 Kallmann syndrome UniProtKB-KW CURATED 4
ENSP00000259371 DAB2IP DOID:162 Cancer UniProtKB-KW CURATED 4
ENSP00000259400 STX17 DOID:986 Alopecia areata MedlinePlus CURATED 5
ENSP00000259455 GABBR2 DOID:1826 Epilepsy UniProtKB-KW CURATED 4
ENSP00000259469 RPL35 DOID:1339 Diamond-Blackfan anemia UniProtKB-KW CURATED 4
ENSP00000259486 ENPP2 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000259607 CCL21 DOID:7148 Rheumatoid arthritis MedlinePlus CURATED 5
ENSP00000259698 RIPOR2 DOID:0050563 Nonsyndromic deafness MedlinePlus CURATED 5
ENSP00000259698 RIPOR2 DOID:0050563 Nonsyndromic deafness UniProtKB-KW CURATED 4
ENSP00000259808 RIPK1 DOID:9074 Systemic lupus erythematosus MedlinePlus CURATED 5
ENSP00000259818 TUBB2B DOID:0080143 Congenital fibrosis of the extraocular muscles MedlinePlus CURATED 5
ENSP00000259818 TUBB2B DOID:0080918 Polymicrogyria MedlinePlus CURATED 5
ENSP00000259818 TUBB2B DOID:0112237 Lissencephaly 1 MedlinePlus CURATED 5
ENSP00000259938 CLPS DOID:9351 Diabetes mellitus UniProtKB-KW CURATED 4
ENSP00000260010 TLR2 DOID:1024 Leprosy MedlinePlus CURATED 5
ENSP00000260116 TTPA DOID:0090028 Familial isolated deficiency of vitamin E MedlinePlus CURATED 5
ENSP00000260197 SORL1 DOID:10652 Alzheimer's disease UniProtKB-KW CURATED 4
ENSP00000260197 SORL1 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000260197 SORL1 DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000260228 MMP20 DOID:2187 Amelogenesis imperfecta MedlinePlus CURATED 5
ENSP00000260228 MMP20 DOID:2187 Amelogenesis imperfecta UniProtKB-KW CURATED 4
ENSP00000260361 NDUFAF1 DOID:0060536 Mitochondrial complex I deficiency MedlinePlus CURATED 5
ENSP00000260363 KIF23 DOID:1338 Congenital dyserythropoietic anemia UniProtKB-KW CURATED 4
ENSP00000260363 KIF23 DOID:589 Congenital hemolytic anemia UniProtKB-KW CURATED 4
ENSP00000260383 TUBGCP4 DOID:10907 Microcephaly UniProtKB-KW CURATED 4
ENSP00000260408 ADAM10 DOID:10652 Alzheimer's disease UniProtKB-KW CURATED 4
ENSP00000260408 ADAM10 DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000260408 ADAM10 DOID:9120 Amyloidosis UniProtKB-KW CURATED 4
ENSP00000260453 MNS1 DOID:0050545 Visceral heterotaxy UniProtKB-KW CURATED 4
ENSP00000260570 IFT172 DOID:0050592 Asphyxiating thoracic dystrophy MedlinePlus CURATED 5
ENSP00000260570 IFT172 DOID:0050777 Joubert syndrome MedlinePlus CURATED 5
ENSP00000260570 IFT172 DOID:10584 Retinitis pigmentosa UniProtKB-KW CURATED 4
ENSP00000260570 IFT172 DOID:1935 Bardet-Biedl syndrome UniProtKB-KW CURATED 4
ENSP00000260570 IFT172 DOID:9970 Obesity UniProtKB-KW CURATED 4
ENSP00000260585 SELENOI DOID:1289 Neurodegenerative disease UniProtKB-KW CURATED 4
ENSP00000260585 SELENOI DOID:2476 Hereditary spastic paraplegia UniProtKB-KW CURATED 4