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

28
(78.4%)

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)

Autosomal dominant inheritance Autosomal recessive inheritance

28
(78.4%)

TP53

Anemia Diabetes mellitus Jaundice Splenomegaly

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

28
(78.4%)

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)

Autosomal dominant inheritance Autosomal recessive inheritance

28
(78.4%)

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)

Autosomal dominant inheritance Autosomal recessive inheritance

46
(77.5%)

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

48
(77.2%)

PHKA2

Anemia Cholestasis Hypoglycemia Splenomegaly

glycogen storage disease IXa (OMIM) Glycogen storage disease due to liver phosphorylase kinase deficiency (ORDO)

X-linked recessive inheritance

48
(77.2%)

PHKG2

Anemia Cholestasis Ketosis Splenomegaly

glycogen storage disease IXc (OMIM) Glycogen storage disease due to liver phosphorylase kinase deficiency (ORDO)

Autosomal recessive inheritance