more general categories |
information about this item |
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1. Human Genes |
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1. Human Genes |
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A kinase (PRKA) anchor protein (yotiao) 9 [HGNC:AKAP9] (21) |
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nuclear factor, erythroid 2-like 2 [HGNC:NFE2L2] (213) |
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cadherin-related 23 [HGNC:CDH23] (2) |
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complement factor H [HGNC:CFH] (9) |
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dynein, cytoplasmic 2, heavy chain 1 [HGNC:DYNC2H1] (5) |
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contactin 3 (plasmacytoma associated) [HGNC:CNTN3] (5) |
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glycerol kinase [HGNC:GK] (19) |
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DnaJ (Hsp40) homolog, subfamily C, member 10 [HGNC:DNAJC10] (10) |
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contactin 3 (plasmacytoma associated) [HGNC:CNTN3] (5) |
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sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C [HGNC:SEMA3C] (20) |
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contactin 3 (plasmacytoma associated) [HGNC:CNTN3] (5) |
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intraflagellar transport 080 homolog (Chlamydomonas) [HGNC:IFT80] (7) |
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enhancer of zeste homolog 2 (Drosophila) [HGNC:EZH2] (32) |
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myosin VI [HGNC:MYO6] (20) |
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DnaJ (Hsp40) homolog, subfamily C, member 10 [HGNC:DNAJC10] (10) |
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protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [HGNC:PTPN22] (11) |
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regulator of G-protein signaling 05 [HGNC:RGS5] (13) |
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sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C [HGNC:SEMA3C] (20) |
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A kinase (PRKA) anchor protein (yotiao) 09 [HGNC:AKAP9] (21) |
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suppressor of cytokine signaling 2 [HGNC:SOCS2] (31) |
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solute carrier organic anion transporter family, member 1B1 [HGNC:SLCO1B1] (60) |
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sterile alpha motif domain containing 9 [HGNC:SAMD9] (15) |
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suppressor of cytokine signaling 2 [HGNC:SOCS2] (31) |
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bromodomain and WD repeat domain containing 1 [HGNC:BRWD1] (7) |
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Dmx-like 1 [HGNC:DMXL1] (14) |
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intraflagellar transport 080 homolog (Chlamydomonas) [HGNC:IFT80] (7) |
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2. Interaction: Human Genes and Chemicals |
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2. Interaction: Human Genes and Chemicals |
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expression (2187) |
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expression (3238) |
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A. Anatomy |
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A. Anatomy |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Meckel Syndrome, Type 4 [MESH:C567003] (20) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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C01. Bacterial Infections and Mycoses |
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C01. Bacterial Infections and Mycoses |
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Meningococcal Infections [MESH:D008589] (242) |
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C02. Virus Diseases |
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C02. Virus Diseases |
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Influenza, Human [MESH:D007251] (1075) |
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C03. Parasitic Diseases |
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C03. Parasitic Diseases |
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Malaria, Falciparum [MESH:D016778] (438) |
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C04. Neoplasms |
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C04. Neoplasms |
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Polycystic Ovary Syndrome [MESH:D011085] (2186) |
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Leukemia, Myeloid, Acute [MESH:D015470] (2176) |
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Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
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Osteosarcoma [MESH:D012516] (2175) |
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Fibromatosis, Abdominal [MESH:D018221] (56) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Osteosarcoma [MESH:D012516] (2175) |
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Phyllodes Tumor of the Prostate [MESH:C549759] (110) |
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Neuroendocrine Tumors [MESH:D018358] (3633) |
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Medulloblastoma [MESH:D008527] (1282) |
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Glioblastoma [MESH:D005909] (2554) |
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Medulloblastoma [MESH:D008527] (1282) |
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Neuroblastoma [MESH:D009447] (1420) |
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Mesothelioma [MESH:D008654] (2567) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Thyroid cancer, papillary [MESH:C536915] (111) |
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Carcinoma, Squamous Cell [MESH:D002294] (4294) |
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Carcinoma, Adenoid Cystic [MESH:D003528] (1561) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Mesothelioma [MESH:D008654] (2567) |
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Medulloblastoma [MESH:D008527] (1282) |
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Glioblastoma [MESH:D005909] (2554) |
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Medulloblastoma [MESH:D008527] (1282) |
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Neuroblastoma [MESH:D009447] (1420) |
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Carcinoma, Squamous Cell [MESH:D002294] (4294) |
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Neuroendocrine Tumors [MESH:D018358] (3625) |
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Medulloblastoma [MESH:D008527] (1282) |
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Glioblastoma [MESH:D005909] (2554) |
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Medulloblastoma [MESH:D008527] (1282) |
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Neuroblastoma [MESH:D009447] (1420) |
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Multiple Myeloma [MESH:D009101] (2767) |
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Skin Neoplasms [MESH:D012878] (2992) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Breast Neoplasms, Male [MESH:D018567] (650) |
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Stomach Neoplasms [MESH:D013274] (4942) |
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Turcot syndrome [MESH:C536928] (159) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
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Rectal Neoplasms [MESH:D012004] (717) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Thyroid cancer, papillary [MESH:C536915] (111) |
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Thyroid cancer, papillary [MESH:C536915] (111) |
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Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
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Turcot syndrome [MESH:C536928] (159) |
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Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
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Endometrial Neoplasms [MESH:D016889] (1987) |
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Phyllodes Tumor of the Prostate [MESH:C549759] (110) |
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Urinary Bladder Neoplasms [MESH:D001749] (4079) |
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Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
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Neoplasm Recurrence, Local [MESH:D009364] (1949) |
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Cell Transformation, Neoplastic [MESH:D002471] (3389) |
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Turcot syndrome [MESH:C536928] (159) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Aberrant Crypt Foci [MESH:D058739] (326) |
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C05. Musculoskeletal Diseases |
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C05. Musculoskeletal Diseases |
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Achondrogenesis type 1A [MESH:C536015] (16) |
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Achondrogenesis type 1A [MESH:C536015] (16) |
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Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18) |
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Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
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Tumoral Calcinosis, Normophosphatemic, Familial [MESH:C566473] (18) |
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Short rib-polydactyly syndrome, Verma-Naumoff type [MESH:C537602] (15) |
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Tumoral Calcinosis, Normophosphatemic, Familial [MESH:C566473] (18) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Arthritis, Rheumatoid [MESH:D001172] (3603) |
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Muscle Rigidity [MESH:D009127] (617) |
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Facioscapulohumeral Muscular Dystrophy 1B [MESH:C563557] (13) |
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LIG4 Syndrome [MESH:C564694] (24) |
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Noonan Syndrome [MESH:D009634] (506) |
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Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Meckel Syndrome, Type 4 [MESH:C567003] (20) |
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Short rib-polydactyly syndrome, Verma-Naumoff type [MESH:C537602] (15) |
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Laurin-Sandrow syndrome [MESH:C535689] (15) |
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Arthritis, Rheumatoid [MESH:D001172] (3603) |
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C06. Digestive System Diseases |
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C06. Digestive System Diseases |
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Cholestasis [MESH:D002779] (3419) |
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Stomach Neoplasms [MESH:D013274] (4942) |
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Turcot syndrome [MESH:C536928] (159) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
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Rectal Neoplasms [MESH:D012004] (717) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Inflammatory Bowel Diseases [MESH:D015212] (3492) |
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Stomach Neoplasms [MESH:D013274] (4942) |
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Turcot syndrome [MESH:C536928] (159) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
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Rectal Neoplasms [MESH:D012004] (717) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Inflammatory Bowel Diseases [MESH:D015212] (3492) |
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Turcot syndrome [MESH:C536928] (159) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Turcot syndrome [MESH:C536928] (159) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
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Rectal Neoplasms [MESH:D012004] (717) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Desmoid disease, hereditary [MESH:C535944] (58) |
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Turcot syndrome [MESH:C536928] (159) |
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Rectal Neoplasms [MESH:D012004] (717) |
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Stomach Neoplasms [MESH:D013274] (4942) |
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Drug-Induced Liver Injury [MESH:D056486] (4936) |
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Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567) |
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Liver Failure, Acute [MESH:D017114] (2404) |
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Liver Cirrhosis, Experimental [MESH:D008106] (4589) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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C08. Respiratory Tract Diseases |
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C08. Respiratory Tract Diseases |
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Thoracic Diseases [MESH:D013896] (81) |
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Asthma [MESH:D001249] (4098) |
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Pulmonary arterial hypertension [MESH:C536282] (94) |
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Asthma [MESH:D001249] (3903) |
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Acute Lung Injury [MESH:D055371] (1907) |
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Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
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Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
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Asthma [MESH:D001249] (4098) |
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Influenza, Human [MESH:D007251] (1075) |
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Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
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C09. Otorhinolaryngologic Diseases |
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C09. Otorhinolaryngologic Diseases |
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Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
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Deafness, Autosomal Recessive 37 [MESH:C564331] (35) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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C10. Nervous System Diseases |
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C10. Nervous System Diseases |
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Not Fully Specified [NFS] (4027) |
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Myasthenia Gravis [MESH:D009157] (632) |
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Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
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Parkinson Disease [MESH:D010300] (3595) |
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Turcot syndrome [MESH:C536928] (159) |
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Joubert syndrome 5 [MESH:C537688] (20) |
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Frontotemporal Lobar Degeneration [MESH:D057174] (310) |
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Status Epilepticus [MESH:D013226] (4014) |
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Bardet-Biedl Syndrome [MESH:D020788] (110) |
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Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
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Neuroacanthocytosis [MESH:D054546] (32) |
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Parkinson Disease [MESH:D010300] (3595) |
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Joubert syndrome 5 [MESH:C537688] (20) |
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Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
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Joubert syndrome 5 [MESH:C537688] (20) |
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Senior-Loken Syndrome 6 [MESH:C565708] (20) |
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Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
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Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
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Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76) |
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Meckel Syndrome, Type 4 [MESH:C567003] (20) |
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Turcot syndrome [MESH:C536928] (159) |
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Parkinson Disease [MESH:D010300] (3595) |
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Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
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Senior-Loken Syndrome 6 [MESH:C565708] (20) |
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Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
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Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
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Frontotemporal Lobar Degeneration [MESH:D057174] (308) |
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Reflex, Abnormal [MESH:D012021] (485) |
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Hypokinesia [MESH:D018476] (279) |
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Myoclonus [MESH:D009207] (427) |
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Tremor [MESH:D014202] (840) |
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Brunner Syndrome [MESH:C563156] (124) |
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De Lange Syndrome [MESH:D003635] (55) |
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Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
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ATR-X syndrome [MESH:C538258] (59) |
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Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
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Muscle Rigidity [MESH:D009127] (617) |
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Joubert syndrome 5 [MESH:C537688] (20) |
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Taste Disorders [MESH:D013651] (461) |
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Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
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Deafness, Autosomal Recessive 37 [MESH:C564331] (35) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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Peripheral Nervous System Diseases [MESH:D010523] (6151) |
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Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
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Facioscapulohumeral Muscular Dystrophy 1B [MESH:C563557] (13) |
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Myasthenia Gravis [MESH:D009157] (632) |
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Arsenic Poisoning [MESH:D020261] (2540) |
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Narcolepsy [MESH:D009290] (478) |
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C11. Eye Diseases |
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C11. Eye Diseases |
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Eye Abnormalities [MESH:D005124] (1233) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Choroideremia [MESH:D015794] (18) |
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Senior-Loken Syndrome 6 [MESH:C565708] (20) |
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Leber Congenital Amaurosis 10 [MESH:C565720] (20) |
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Leber Congenital Amaurosis 14 [MESH:C567636] (41) |
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Senior-Loken Syndrome 6 [MESH:C565708] (20) |
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Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
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Leber Congenital Amaurosis 14 [MESH:C567636] (41) |
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Joubert syndrome 5 [MESH:C537688] (20) |
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Senior-Loken Syndrome 6 [MESH:C565708] (20) |
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Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
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Senior-Loken Syndrome 6 [MESH:C565708] (20) |
|
|
Leber Congenital Amaurosis 10 [MESH:C565720] (20) |
|
|
Leber Congenital Amaurosis 14 [MESH:C567636] (41) |
|
|
|
|
|
Macular Degeneration, Age-Related, 4 [MESH:C565196] (67) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
|
|
|
Leber Congenital Amaurosis 14 [MESH:C567636] (41) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
|
|
|
Choroideremia [MESH:D015794] (18) |
|
|
|
|
|
|
|
|
|
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
 |
C12. Male Urogenital Diseases |
 |
 |
|
C12. Male Urogenital Diseases |
|
|
|
|
|
|
|
|
|
|
|
Phyllodes Tumor of the Prostate [MESH:C549759] (110) |
|
|
|
|
|
Oligospermia [MESH:D009845] (799) |
|
|
|
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
|
|
|
Phyllodes Tumor of the Prostate [MESH:C549759] (110) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
|
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
|
|
|
|
|
|
Phyllodes Tumor of the Prostate [MESH:C549759] (110) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
|
|
|
Joubert syndrome 5 [MESH:C537688] (20) |
|
|
Complement Factor H Deficiency [MESH:C562875] (52) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Senior-Loken Syndrome 6 [MESH:C565708] (20) |
|
|
Meckel Syndrome, Type 4 [MESH:C567003] (20) |
|
|
|
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
 |
C13. Female Urogenital Diseases and Pregnancy Complications |
 |
 |
|
C13. Female Urogenital Diseases and Pregnancy Complications |
|
|
|
|
|
Endometriosis [MESH:D004715] (2461) |
|
|
|
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
|
|
|
Endometrial Neoplasms [MESH:D016889] (1984) |
|
|
|
|
|
|
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
|
|
|
|
|
|
Endometrial Neoplasms [MESH:D016889] (1989) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
|
|
|
Joubert syndrome 5 [MESH:C537688] (20) |
|
|
Complement Factor H Deficiency [MESH:C562875] (52) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Senior-Loken Syndrome 6 [MESH:C565708] (20) |
|
|
Meckel Syndrome, Type 4 [MESH:C567003] (20) |
|
|
|
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Diabetes, Gestational [MESH:D016640] (1157) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
 |
C14. Cardiovascular Diseases |
 |
 |
|
C14. Cardiovascular Diseases |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
|
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
|
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Myocardial Ischemia [MESH:D017202] (5787) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Brugada Syndrome 4 [MESH:C567508] (21) |
|
|
Long Qt Syndrome 11 [MESH:C567513] (48) |
|
|
Cardiomyopathy, Dilated [MESH:D002311] (1576) |
|
|
Cardiomyopathy, Dilated [MESH:D002311] (1576) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
|
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Ventricular Dysfunction, Left [MESH:D018487] (1631) |
|
|
Hypotension [MESH:D007022] (4045) |
|
|
Myocardial Ischemia [MESH:D017202] (5791) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Hypertension, Essential [MESH:C562386] (1308) |
|
 |
C15. Hemic and Lymphatic Diseases |
 |
 |
|
C15. Hemic and Lymphatic Diseases |
|
|
Not Fully Specified [NFS] (453) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
ATR-X syndrome [MESH:C538258] (59) |
|
|
Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59) |
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
|
|
|
|
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
|
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376) |
|
|
Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59) |
|
|
Primary Myelofibrosis [MESH:D055728] (165) |
|
|
|
|
|
|
|
|
ATR-X syndrome [MESH:C538258] (59) |
|
|
Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59) |
|
|
|
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
|
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
|
|
|
|
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Hypersplenism [MESH:D006971] (341) |
|
 |
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
 |
 |
|
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
|
|
|
|
|
Eye Abnormalities [MESH:D005124] (1233) |
|
|
Laurin-Sandrow syndrome [MESH:C535689] (15) |
|
|
Bardet-Biedl Syndrome [MESH:D020788] (110) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
|
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
|
|
|
Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18) |
|
|
Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
|
|
Short rib-polydactyly syndrome, Verma-Naumoff type [MESH:C537602] (15) |
|
|
|
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
|
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Long Qt Syndrome 11 [MESH:C567513] (48) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
|
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76) |
|
|
|
|
|
Laurin-Sandrow syndrome [MESH:C535689] (15) |
|
|
Laurin-Sandrow syndrome [MESH:C535689] (15) |
|
|
Laurin-Sandrow syndrome [MESH:C535689] (15) |
|
|
Meckel Syndrome, Type 4 [MESH:C567003] (20) |
|
|
Short rib-polydactyly syndrome, Verma-Naumoff type [MESH:C537602] (15) |
|
|
|
|
|
|
|
|
Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76) |
|
|
|
|
|
Meckel Syndrome, Type 4 [MESH:C567003] (20) |
|
|
|
|
|
|
|
|
Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18) |
|
|
Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
|
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
|
|
|
|
|
|
ATR-X syndrome [MESH:C538258] (59) |
|
|
Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59) |
|
|
Brugada Syndrome 4 [MESH:C567508] (21) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
|
|
|
Achondrogenesis type 1A [MESH:C536015] (16) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
Choroideremia [MESH:D015794] (18) |
|
|
Senior-Loken Syndrome 6 [MESH:C565708] (20) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Leber Congenital Amaurosis 14 [MESH:C567636] (41) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59) |
|
|
Brunner Syndrome [MESH:C563156] (124) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Choroideremia [MESH:D015794] (18) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
|
|
ATR-X syndrome [MESH:C538258] (59) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
|
|
|
|
|
|
ATR-X syndrome [MESH:C538258] (59) |
|
|
Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59) |
|
|
Neuroacanthocytosis [MESH:D054546] (32) |
|
|
Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
|
|
ATR-X syndrome [MESH:C538258] (59) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Senior-Loken Syndrome 6 [MESH:C565708] (20) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
|
|
|
2-Methylbutyryl-CoA Dehydrogenase Deficiency [MESH:C566487] (38) |
|
|
Hyperglycerolemia [MESH:C538138] (46) |
|
|
|
|
|
Facioscapulohumeral Muscular Dystrophy 1B [MESH:C563557] (13) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260) |
|
|
Desmoid disease, hereditary [MESH:C535944] (58) |
|
|
|
|
|
|
|
|
Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18) |
|
|
Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
|
|
|
|
|
Tumoral Calcinosis, Normophosphatemic, Familial [MESH:C566473] (18) |
|
 |
C17. Skin and Connective Tissue Diseases |
 |
 |
|
C17. Skin and Connective Tissue Diseases |
|
|
Lupus Erythematosus, Systemic [MESH:D008180] (2317) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
Keloid [MESH:D007627] (1111) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Keratosis [MESH:D007642] (1941) |
|
|
Skin Neoplasms [MESH:D012878] (2991) |
|
|
Chloracne [MESH:D054506] (1274) |
|
|
|
|
|
Breast Neoplasms, Male [MESH:D018567] (650) |
|
|
|
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
|
|
|
Chloracne [MESH:D054506] (1274) |
|
|
|
|
|
Alopecia [MESH:D000505] (1453) |
|
|
|
|
|
|
|
|
Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18) |
|
|
Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
|
|
|
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
|
|
|
|
|
|
Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18) |
|
|
Asphyxiating Thoracic Dystrophy 3 [MESH:C567761] (15) |
|
 |
C18. Nutritional and Metabolic Diseases |
 |
 |
|
C18. Nutritional and Metabolic Diseases |
|
|
|
|
|
|
|
|
Tumoral Calcinosis, Normophosphatemic, Familial [MESH:C566473] (18) |
|
|
Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
|
|
Hyperglycemia [MESH:D006943] (1858) |
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes Mellitus, Type 1 [MESH:D003922] (1897) |
|
|
Diabetes Mellitus, Type 2 [MESH:D003924] (4219) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Insulin Resistance [MESH:D007333] (3511) |
|
|
|
|
|
Hyperlipidemias [MESH:D006949] (1908) |
|
|
|
|
|
2-Methylbutyryl-CoA Dehydrogenase Deficiency [MESH:C566487] (38) |
|
|
Hyperglycerolemia [MESH:C538138] (46) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
|
|
|
Frontotemporal Lobar Degeneration [MESH:D057174] (308) |
|
|
Hypokalemia [MESH:D007008] (1041) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin A Deficiency [MESH:D014802] (705) |
|
|
Obesity [MESH:D009765] (4462) |
|
 |
C19. Endocrine System Diseases |
 |
 |
|
C19. Endocrine System Diseases |
|
|
|
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes Mellitus, Type 1 [MESH:D003922] (1897) |
|
|
Diabetes Mellitus, Type 2 [MESH:D003924] (4219) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
|
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Thyroid cancer, papillary [MESH:C536915] (111) |
|
|
|
|
|
|
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
|
|
|
Thyroid cancer, papillary [MESH:C536915] (111) |
|
 |
C20. Immune System Diseases |
 |
 |
|
C20. Immune System Diseases |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3601) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Diabetes Mellitus, Type 1 [MESH:D003922] (1893) |
|
|
Lupus Erythematosus, Systemic [MESH:D008180] (2317) |
|
|
Myasthenia Gravis [MESH:D009157] (632) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
|
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
|
|
|
Asthma [MESH:D001249] (3914) |
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
|
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Multiple Myeloma [MESH:D009101] (2767) |
|
|
|
|
|
|
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
 |
C22. Animal Diseases |
 |
 |
|
C22. Animal Diseases |
|
|
Disease Models, Animal [MESH:D004195] (2058) |
|
|
Mammary Neoplasms, Animal [MESH:D015674] (2735) |
|
 |
C23. Pathological Conditions, Signs and Symptoms |
 |
 |
|
C23. Pathological Conditions, Signs and Symptoms |
|
|
Alopecia [MESH:D000505] (1383) |
|
|
|
|
|
Meckel Syndrome, Type 4 [MESH:C567003] (20) |
|
|
Intestinal Polyps [MESH:D007417] (1592) |
|
|
Emphysema [MESH:D004646] (1096) |
|
|
Hyperplasia [MESH:D006965] (2463) |
|
|
Necrosis [MESH:D009336] (4019) |
|
|
Nerve Degeneration [MESH:D009410] (4061) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Long Qt Syndrome 11 [MESH:C567513] (48) |
|
|
Asphyxia [MESH:D001237] (25) |
|
|
Disease Progression [MESH:D018450] (2868) |
|
|
|
|
|
Keloid [MESH:D007627] (1110) |
|
|
Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
|
|
|
|
|
|
Obesity [MESH:D009765] (4454) |
|
|
Reflex, Abnormal [MESH:D012021] (485) |
|
|
Hypokinesia [MESH:D018476] (279) |
|
|
Myoclonus [MESH:D009207] (263) |
|
|
Tremor [MESH:D014202] (840) |
|
|
|
|
|
Brunner Syndrome [MESH:C563156] (124) |
|
|
|
|
|
Muscle Rigidity [MESH:D009127] (617) |
|
|
Joubert syndrome 5 [MESH:C537688] (20) |
|
|
Taste Disorders [MESH:D013651] (461) |
|
|
|
|
|
|
|
|
Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59) |
|
|
Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
|
|
Deafness, Autosomal Recessive 37 [MESH:C564331] (35) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
 |
C25. Chemically-Induced Disorders |
 |
 |
|
C25. Chemically-Induced Disorders |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Cadmium Poisoning [MESH:D002105] (180) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Neurotoxicity Syndromes [MESH:D020258] (3323) |
|
|
Cocaine-Related Disorders [MESH:D019970] (3054) |
|
 |
C26. Wounds and Injuries |
 |
 |
|
C26. Wounds and Injuries |
|
|
Asphyxia [MESH:D001237] (25) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
 |
D02. Organic Chemicals |
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D02. Organic Chemicals |
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Clorgyline [MESH:D003010] (3) |
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F. Psychiatry and Psychology |
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F. Psychiatry and Psychology |
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Brunner Syndrome [MESH:C563156] (124) |
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Brunner Syndrome [MESH:C563156] (124) |
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Brunner Syndrome [MESH:C563156] (124) |
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Brunner Syndrome [MESH:C563156] (124) |
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Brunner Syndrome [MESH:C563156] (124) |
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