| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Abdominal Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
20694012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Abetalipoproteinemia |
Abetalipoproteinemia |
BEFREE |
11857085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired cubitus valgus |
Cubitus valgus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute leukemia |
Leukemia |
BEFREE |
19276253, 2013228, 26104663 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
19276253, 22591685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
20674974, 29417354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
19276253, 22591685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aggressive systemic mastocytosis |
Systemic Mastocytosis |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Refractory |
Refractory anemia |
Pubtator |
20678218 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
25348515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Stenosis |
Aortic Valve Sclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
40594127 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
18395227, 27277384 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
30807392 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
30807392 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Lymphoproliferative Syndrome |
Autoimmune lymphoproliferative disorder |
Pubtator |
30807392 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
2013228, 20208059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
20694012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blast Phase |
Blast phase chronic myelogenous leukemia |
BEFREE |
21646683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bloom Syndrome |
Bloom Syndrome |
BEFREE |
9731483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
30674869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
27842510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17255943, 27842510, 28415719, 29145193, 29498809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
23621189, 27244893, 30355600 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
22860012, 26474280, 31976317, 36749775 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiac defects |
Cardiac Defects |
BEFREE |
25952305 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiofaciocutaneous syndrome |
Cardiofaciocutaneous syndrome |
Pubtator |
20694012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Deviations |
Development Disorder |
CTD_human_DG |
20694012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Specific |
Development Disorder |
CTD_human_DG |
20694012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
19276253, 22591685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
BEFREE |
19387008, 20008300, 20428194, 20671051, 21646683, 21904853, 22511494, 23010802, 25871390, 26104663, 26697989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chylothorax |
Chylothorax |
Pubtator |
25358541 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chylothorax congenital |
Chylothorax |
Pubtator |
25358541 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
22074469, 26206335 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
25939664 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
12696071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30171729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Costello Syndrome |
Costello syndrome |
Pubtator |
20694012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
20694012 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
Pubtator |
20694012, 25952305 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
BEFREE |
25952305 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cyclic neutropenia |
Cyclic neutropenia |
Pubtator |
34413458 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
27805921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
CTD_human_DG |
20694012 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Developmental disability |
Pubtator |
20694012, 30355600 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
20543203, 20619386, 20694012, 22266821, 25952305, 26152360, 28589114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Edema |
Edema |
Pubtator |
25358541 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Embryonal Rhabdomyosarcoma |
Embryonal Rhabdomyosarcoma |
BEFREE |
30803559 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ewings sarcoma |
Ewing sarcoma |
BEFREE |
2013228, 3422214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Neoplasms |
Gastrointestinal Neoplasms |
BEFREE |
9731483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
BEFREE |
17452978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease |
Gaucher disease |
Pubtator |
21098288 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
26152360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
26152360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
26142735 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
32322592, 34433654, 34998158, 35027542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Disease |
Graves disease |
Pubtator |
39239096 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
20543203, 20694012 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Heart Diseases |
Heart disease |
Pubtator |
25952305 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
22591685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
CLINVAR_DG |
23696637 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops fetalis |
Pubtator |
25358541 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypereosinophilic Syndrome |
Hypereosinophilic syndrome |
Pubtator |
27174585 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
BEFREE |
11944976 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Jacobsen Distal 11q Deletion Syndrome |
Jacobsen Syndrome |
BEFREE |
11076037, 18078840, 22564372, 7881408, 9508241, 9927483 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
BEFREE |
19571318, 20408841, 20543203, 20694012, 21623760, 22138511, 22480363, 22733026, 22736231, 22753870, 22773603, 23696637, 23832011, 24164563, 24493670, 25283271, 25358541, 25939664, 26911351, 27913534, 28414188, 28548124, 29600428, 30803559 View all (9 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
CLINVAR_DG |
19571318, 20694012, 20955399, 21901340 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
CTD_human_DG |
20694012, 22315502, 26457647 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
ORPHANET_DG |
23832011 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile myelomonocytic leukemia |
Myelomonocytic Leukemia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
GENOMICS_ENGLAND_DG |
28297620 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Keratosis Seborrheic |
Seborrheic keratosis |
Pubtator |
36610814 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
36282402 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
20543203 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
20428194, 25939664, 26449661, 28082680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
25939664, 26676746, 33617900, 37199372, 8900225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid |
Myeloid leukemia |
Pubtator |
20678218, 21346257 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
16982329, 17475912, 18974118, 19901108, 20678218, 22131879, 22138511, 22912701, 22929312, 24493670, 25932436, 27983727, 29227476, 37199372, 40280316 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myelomonocytic Chronic |
Myelomonocytic leukemia |
Pubtator |
19074904, 19387008, 19901108, 20008299, 20880116, 21828135, 22138511, 22511494, 22733026, 24817963, 26648538, 33108455, 33512474, 39298477, 40415500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myelomonocytic Juvenile |
Myelomonocytic leukemia |
Pubtator |
19571318, 19901108, 20008299, 20408841, 20543203, 20694012, 20955399, 22753870, 22773603, 23696637, 24493670, 25358541, 25939664, 25952305, 26316488, 26457647, 29884903, 30096712, 30803559, 30807392, 32933826, 33375775, 34716204, 39298477 View all (9 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Neutrophilic Chronic |
Neutrophilic leukemia |
Pubtator |
33822276 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
12696071, 14738146, 17475912, 19276253, 20622007, 20674974, 22131879, 22929312, 23025505, 24493670, 26449661, 31309543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
LHGDN |
12696071, 17475912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelomonocytic, Chronic |
Myelomonocytic Leukemia |
BEFREE |
22138511, 22733026, 24164563, 28548124, 29600428 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
18505685, 20126411, 23621189, 37328769 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus |
Lupus Erythematosus |
BEFREE |
23434382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
11086108, 17195233, 23434382 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Discoid |
Lupus Erythematosus |
BEFREE |
23434382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
23434382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Vulgaris |
Lupus Vulgaris |
BEFREE |
23434382 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphocytosis |
Lymphocytosis |
BEFREE |
24300853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
27805921 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, T-Cell, Cutaneous |
Lymphoma |
BEFREE |
25140833, 27805921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoproliferative Disorders |
Lymphoproliferative Disorder |
BEFREE |
11857085, 30807392 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
27842510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
20126411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
25348515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
19620960, 20126411, 20195608, 20619386, 21422499, 22246246, 23025505, 29899407, 30803559 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Ovarian Germ Cell Neoplasm |
Malignant Ovarian Germ Cell Neoplasm |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mastocytosis Systemic |
Systemic mastocytosis |
Pubtator |
22905207, 23958953, 27214377 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mastocytosis, Systemic |
Mastocytosis |
BEFREE |
22905207, 23958953, 27214377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
31773704, 35940046, 36543142 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Methylmalonic acidemia |
Methylmalonic acidemia |
Pubtator |
1671869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Miller Dieker syndrome |
Miller Dieker Syndrome |
BEFREE |
20674974 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
20543203, 20619386, 20694012, 22266821, 25952305, 26152360, 28589114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya Disease |
Moyamoya Disease |
BEFREE |
25283271, 28343148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya disease 1 |
Moyamoya disease |
BEFREE |
25283271 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mycosis Fungoides |
Mycosis fungoides |
Pubtator |
27805921 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplasia |
Myelodysplasia |
BEFREE |
24903747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
19276253, 20543203, 20674974, 21902648, 22131879, 22138511, 23010802, 24903747, 25428262, 26449661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
19074904, 20678218, 22131879, 22138511, 23300180, 25428262, 29618722, 31772163, 36380727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic-Myeloproliferative Diseases |
Myelodysplastic-Myeloproliferative Diseases |
BEFREE |
22733026, 23010802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
21118980 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelomonocytic leukemia |
Myelomonocytic Leukemia |
BEFREE |
29600428 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelomonocytic leukemia |
Myelomonocytic Leukemia |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
19387008, 20671051, 21422499, 21904853, 22315494, 22511494, 22733026, 23010802, 23590807, 26104663 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative Neoplasm, Unclassifiable |
Myeloproliferative Neoplasm |
BEFREE |
29417354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Polyps |
Nasal polyp |
Pubtator |
32047813 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
28827787 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19620960, 20237427, 20547695, 20619386, 21904853, 22591685, 25348515, 25952305, 29600428, 29899407, 30803559, 31107544 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
Pubtator |
20694012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
20126411 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan Syndrome |
Noonan Syndrome |
CLINVAR_DG |
19571318, 19620960, 20595524, 20619386, 20644105, 20694012, 20955399, 21901340, 23823657, 25358541, 25952305 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan Syndrome |
Noonan Syndrome |
BEFREE |
20619386, 25178484, 25283271, 25952305, 26286251, 26911351 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan Syndrome |
Noonan syndrome |
Pubtator |
20619386, 20694012, 25952305 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan Syndrome |
Noonan Syndrome |
GENOMICS_ENGLAND_DG |
23875798 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome |
Noonan Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan Syndrome 1 |
Noonan Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
Noonan Syndrome-Like Disorder With Myelomonocytic Leukemia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Myelomonocytic Leukemia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia |
GENOMICS_ENGLAND_DG |
19074904, 19571318, 20543203, 20619386, 23875798, 25283271, 25358541 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia |
ORPHANET_DG |
20543203, 20619386 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia |
UNIPROT_DG |
20619386, 25178484 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia |
BEFREE |
24493670, 28414188 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA |
Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteogenesis Imperfecta |
Osteogenesis imperfecta |
Pubtator |
21596750 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
BEFREE |
28697211, 29181892, 31525451, 31709723, 31709730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
25348515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
30190130 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia Vera |
Polycythemia Vera |
BEFREE |
21904853, 22106054, 22733026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Stress Disorder |
Stress Disorder |
BEFREE |
30316170 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Myelofibrosis |
Myelofibrosis |
BEFREE |
21904853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
LHGDN |
19002168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
19002168 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Refractory anaemia with excess blasts |
Myelodysplastic syndrome |
BEFREE |
20678218 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Refractory anemias |
Anemia |
BEFREE |
22131879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30171729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
Pubtator |
34095712 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Rhabdomyosarcoma Embryonal |
Rhabdomyosarcoma |
Pubtator |
30803559 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
2013228 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma Kaposi |
Sarcoma |
Pubtator |
21937638 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| secondary acute myeloid leukemia |
Myeloid leukemia |
BEFREE |
20428194, 20674974, 22131879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sezary Syndrome |
Sezary Syndrome |
BEFREE |
27805921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sezary Syndrome |
Sezary syndrome |
Pubtator |
27805921 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
27805921 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Splenomegaly |
Splenomegaly |
Pubtator |
39298477 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
23621189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
23621189, 27244893, 32064753 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
27244893 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
20038312, 21725207, 22262855, 28972304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
17407232 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocythemia, Essential |
Thrombocythemia |
BEFREE |
21904853, 22106054 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocytosis |
Thrombocytosis |
BEFREE |
22733026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
25803323, 34531437 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid disease |
Pubtator |
39239096 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transcobalamin I Deficiency |
Transcobalamin deficiency |
Pubtator |
7342493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unilateral Cryptorchidism |
Cryptorchidism |
CTD_human_DG |
20694012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
40594127 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
38537385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
BEFREE |
28343148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vasculitis |
Vasculitis |
CTD_human_DG |
20694012 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vasculitis |
Vasculitis |
Pubtator |
20694012 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Venous Thromboembolism |
Venous thromboembolism |
Pubtator |
34381164 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Waldenstrom Macroglobulinemia |
Waldenstrom`s Macroglobulinemia |
BEFREE |
27734522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |