|
881
|
|
|
Activin A receptor like type 1 |
ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I |
Anemia, Blood coagulation disorders, Brain abscess, Cerebral arteriovenous malformation, Cholecystitis, Cholelithiasis, Cirrhosis, Congenital pulmonary arteriovenous malformation, Congestive heart failure, Conjunctival telangiectasis, Eczema, Esophageal varix, Gastrointestinal angiodysplasia, Gastrointestinal telangiectasia, Hemangioma, cavernous, Hematomas, Hepatic arteriovenous malformation, Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Hypertension, Intestinal polyposis, Ischemic stroke, Liver failure, Migraine, Nephrolithiasis, Polycythemia, Portal hypertension, Pulmonary arterial hypertension, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arteriovenous fistulas, Pulmonary hypertension, Retinal telangiectasia, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Telangiectasia, Telangiectasia, hereditary hemorrhagic, Thoracic aortic aneurysm and aortic dissection, Transient ischemic attack, Visceral angiomatosisView all (24 more) |
|
882
|
|
|
Rho GTPase activating protein 29 |
PARG1 |
Breast cancer, Cleft lip with or without cleft palate, Cleft palate and bilateral cleft lip, Hearing loss, Hypoplasia of the maxilla, Malignant lymphoma, lymphocytic, intermediate differentiation, Lymphoma, lymphocytic, intermediate, Malnutrition, Oropharyngeal dysphagia, Otitis media, Velopharyngeal insufficiency |
|
883
|
|
|
ATP binding cassette subfamily C member 12 |
MRP9 |
|
|
884
|
|
|
ATP binding cassette subfamily G member 2 (JR blood group) |
ABC15, ABCP, BCRP, BCRP1, BMDP, CD338, CDw338, CDw388, EST157481, GOUT1, MRX, MXR, MXR-1, MXR1, UAQTL1 |
Adenoma, Biliary cirrhosis, Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma of the head and neck, Colorectal cancer, Colorectal neoplasms, Diffuse lymphoma, Gout, Gouty arthritis, Hyperuricemia, Kidney failure, Leukemia, Lymphoblastic leukemia, Marfan syndrome, Nervous system disorder, Papillary adenoma, Rheumatoid arthritis, Biliary cholangitisView all (5 more) |
|
885
|
|
|
Absent in melanoma 2 |
PYHIN4 |
|
|
886
|
|
|
Rac/Cdc42 guanine nucleotide exchange factor 6 |
COOL2, Cool-2, MRX46, PIXA, alpha-PIX, alphaPIX |
Attention deficit hyperactivity disorder, Autism, Developmental delay, Facial paralysis, Neurosensory hearing impairment, Mental retardation, Macrocephaly, Meckel diverticulum, Mental retardation, x-linked, Non-syndromic intellectual disability, x-linked, Obesity, Seizure, Syndactyly of the toes |
|
887
|
|
|
A-kinase anchoring protein 6 |
ADAP100, ADAP6, AKAP100, PRKA6, mAKAP |
Achoo syndrome, Asthma, Atrial fibrillation, Bipolar disorder, Breast cancer, Central nervous system neoplasms, Colorectal cancer, Glioma, Mental retardation, Narcolepsy, Paroxysmal atrial fibrillation, Schizophrenia |
|
888
|
|
|
Autophagy related 5 |
APG5, APG5-LIKE, APG5L, ASP, SCAR25, hAPG5 |
Anemia, Ankylosing spondylitis, Asthma, Autoimmune diseases, Cerebellar hypoplasia, Cholangitis, Colorectal cancer, Crohn disease, Developmental delay, Immune system diseases, Impaired cognition, Lupus erythematosus, Lymphopenia, Multiple myeloma, Multiple sclerosis, Myositis, Narcolepsy, Nystagmus, Ovarian neoplasm, Ovarian cancer, Psoriasis, Rheumatoid arthritis, Scleroderma, Spinocerebellar ataxia, Ulcerative colitisView all (10 more) |
|
889
|
|
|
A-kinase anchoring protein 5 |
AKAP75, AKAP79, H21 |
|
|
890
|
|
|
Aminoacylase 1 |
ACY-1, ACY1D, HEL-S-5 |
Aminoacylase deficiency, Breast cancer, Cerebellar atrophy, Cerebral atrophy, Chromophobe carcinoma, Developmental delay, Encephalopathy, Epileptic encephalopathy, Hearing loss, Mental retardation, Neurological conditions associated with aminoacylase 1 deficiency, Papillary renal carcinoma, Renal carcinoma, Syringomyelia |
