TaoMedAI/RareMedData huggingface dataset:
Gene: XIAP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Acne (HP:0001061)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Folliculitis (HP:0025084)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Splenic hemophagocytosis (HP:0034799)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Fever (HP:0001945)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Recurrent fever (HP:0001954)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Recurrent fever (HP:0001954)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Recurrent fever (HP:0001954)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Childhood onset (HP:0011463)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Crohn's disease (HP:0100280)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Jejunoileal ulceration (HP:0005229)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Cholangitis (HP:0030151)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Dysgammaglobulinemia (HP:0002961)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Severe Epstein Barr virus infection (HP:0031693)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Severe Epstein Barr virus infection (HP:0031693)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Uveitis (HP:0000554)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Pancytopenia (HP:0001876)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: APOA1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Proteinuria (HP:0000093)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE (OMIM:619836)
Gene: APOA1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Diarrhea (HP:0002014)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Dyspnea (HP:0002094)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Conjunctival amyloidosis (HP:0010637)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Blurred vision (HP:0000622)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Decreased circulating apolipoprotein A-I concentration (HP:0031799)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE (OMIM:619836)
Gene: APOA1
Phenotype: Decreased circulating apolipoprotein A-I concentration (HP:0031799)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Infertility (HP:0000789)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Hypertension (HP:0000822)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE (OMIM:619836)
Gene: APOA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Generalized amyloid deposition (HP:0003216)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Cardiac amyloidosis (HP:0030843)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Hepatic amyloidosis (HP:0012280)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Amyloidosis (HP:0011034)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: APOA1
Phenotype: Cutaneous amyloidosis (HP:0012309)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA1
Phenotype: Cataract (HP:0000518)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Gene: APOA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Gene: APOA2
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOA2
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOA2
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOA2
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOA2
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: APOB
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Gene: APOB
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Steatorrhea (HP:0002570)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Gene: APOB
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Dyspnea (HP:0002094)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Gene: APOB
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Renal steatosis (HP:0000799)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Gene: APOB
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Gene: APOB
Phenotype: Hypertension (HP:0000822)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Coronary artery aneurysm (HP:0030882)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Arthralgia (HP:0002829)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Premature arteriosclerosis (HP:0005177)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Gene: APOB
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Heart murmur (HP:0030148)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Myocardial steatosis (HP:0006693)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: APOB
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOB
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Gene: APOC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Eruptive xanthomas (HP:0001013)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Lipemia retinalis (HP:0000660)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Increased circulating chylomicron concentration (HP:0012238)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Decreased circulating apolipoprotein C-II concentration (HP:0033983)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Pancreatitis (HP:0001733)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: APOLIPOPROTEIN C-II DEFICIENCY (OMIM:207750)
Gene: APOC3
Phenotype: Increased HDL cholesterol concentration (HP:0012184)
Associated disease: APOLIPOPROTEIN C-III DEFICIENCY (OMIM:614028)
Gene: APOC3
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: APOLIPOPROTEIN C-III DEFICIENCY (OMIM:614028)
Gene: APOC3
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: APOLIPOPROTEIN C-III DEFICIENCY (OMIM:614028)
Gene: APOE
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)
Gene: APOE
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: Remnant hyperlipoproteinemia; Broad-beta disease; HLP type 3; Hyperlipidemia type 3; Familial dyslipidemia type 3; Hyperlipoproteinemia type 3; Dysbetalipoproteinemia (ORPHA:412)