Total: 4312 results
28(78.4%)
CASR
Anemia Diabetes mellitus Jaundice Splenomegaly
familial hypocalciuric hypercalcemia 1 (OMIM) neonatal severe primary hyperparathyroidism (OMIM) autosomal dominant hypocalcemia 1 (OMIM) Neonatal severe primary hyperparathyroidism (ORDO) Autosomal dominant hypocalcemia (ORDO) Hereditary chronic pancreatitis (ORDO)
Autosomal dominant inheritance Autosomal recessive inheritance
HBB
Hematuria Hemolytic anemia Jaundice Splenomegaly
Heinz body anemia (OMIM) (OMIM) sickle cell anemia (OMIM) alpha thalassemia (OMIM) beta-thalassemia HBB/LCRB (OMIM) Beta-thalassemia major (ORDO) Beta-thalassemia intermedia (ORDO) Dominant beta-thalassemia (ORDO) Delta-beta-thalassemia (ORDO) Hemoglobin C-beta-thalassemia syndrome (ORDO) Hemoglobin E-beta-thalassemia syndrome (ORDO) Sickle cell anemia (ORDO) Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORDO)
TP53
hereditary breast carcinoma (OMIM) hepatocellular carcinoma (OMIM) glioma susceptibility 1 (OMIM) (OMIM) adrenocortical carcinoma, hereditary (OMIM) bone osteosarcoma (OMIM) familial pancreatic carcinoma (OMIM) choroid plexus papilloma (OMIM) nasopharyngeal carcinoma, susceptibility to, 1 (OMIM) basal cell carcinoma, susceptibility to, 7 (OMIM) bone marrow failure syndrome 5 (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Adrenocortical carcinoma (ORDO) Papilloma of choroid plexus (ORDO) Essential thrombocythemia (ORDO) Li-Fraumeni syndrome (ORDO) Osteosarcoma (ORDO)
Autosomal dominant inheritance Somatic mutation Heterogeneous Polygenic inheritance Autosomal recessive inheritance
TREX1
Hemolytic anemia Prolonged neonatal jaundice Proteinuria Splenomegaly
systemic lupus erythematosus (disease) (OMIM) retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (OMIM) Aicardi-Goutieres syndrome 1 (OMIM) chilblain lupus 1 (OMIM) Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (ORDO) Aicardi-Goutières syndrome (ORDO)
KRAS
Diabetes mellitus Hemolytic anemia Jaundice Splenomegaly
arteriovenous malformations of the brain (OMIM) urinary bladder cancer (OMIM) hereditary breast carcinoma (OMIM) hereditary diffuse gastric adenocarcinoma (OMIM) linear nevus sebaceus syndrome (OMIM) lung cancer (OMIM) familial pancreatic carcinoma (OMIM) Toriello-Lacassie-Droste syndrome (OMIM) acute myeloid leukemia (OMIM) Noonan syndrome 3 (OMIM) autoimmune lymphoproliferative syndrome type 4 (OMIM) cardiofaciocutaneous syndrome 2 (OMIM) Familial pancreatic carcinoma (ORDO) Cardiofaciocutaneous syndrome (ORDO) Lynch syndrome (ORDO) Encephalocraniocutaneous lipomatosis (ORDO) Linear nevus sebaceus syndrome (ORDO) Toriello-Lacassie-Droste syndrome (ORDO) Noonan syndrome (ORDO)
Somatic mutation Autosomal dominant inheritance Somatic mosaicism Sporadic Autosomal recessive inheritance
46(77.5%)
MVK
Acrocyanosis Edema Normocytic hypoplastic anemia Splenomegaly
porokeratosis 3, disseminated superficial actinic type (OMIM) hyperimmunoglobulinemia D with periodic fever (OMIM) mevalonic aciduria (OMIM) Mevalonic aciduria (ORDO) Hyperimmunoglobulinemia D with periodic fever (ORDO) Porokeratosis of Mibelli (ORDO) Disseminated superficial actinic porokeratosis (ORDO)
ATRX
Abnormality of metabolism/homeostasis Dermatological manifestations of systemic disorders Iron deficiency anemia Splenomegaly
alpha-thalassemia-myelodysplastic syndrome (OMIM) alpha thalassemia-X-linked intellectual disability syndrome (OMIM) X-linked intellectual disability-hypotonic face syndrome (OMIM) Neuroendocrine tumor of stomach (ORDO) Alpha-thalassemia-myelodysplastic syndrome (ORDO) Alpha-thalassemia-X-linked intellectual disability syndrome (ORDO) Holmes-Gang syndrome (ORDO) Chudley-Lowry-Hoar syndrome (ORDO) Juberg-Marsidi syndrome (ORDO) Carpenter-Waziri syndrome (ORDO) Smith-Fineman-Myers syndrome (ORDO)
X-linked dominant inheritance X-linked recessive inheritance
48(77.2%)
APOA1
Anemia Cholestasis Proteinuria Splenomegaly
familial visceral amyloidosis (OMIM) Apolipoprotein A-I deficiency (ORDO)
Autosomal dominant inheritance
PHKA2
Anemia Cholestasis Hypoglycemia Splenomegaly
glycogen storage disease IXa (OMIM) Glycogen storage disease due to liver phosphorylase kinase deficiency (ORDO)
X-linked recessive inheritance
PHKG2
Anemia Cholestasis Ketosis Splenomegaly
glycogen storage disease IXc (OMIM) Glycogen storage disease due to liver phosphorylase kinase deficiency (ORDO)
Autosomal recessive inheritance