TaoMedAI/RareMedData huggingface dataset:
Gene: AKT2
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: AKT2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: AKT2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Decreased adiponectin level (HP:0030685)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: AKT2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Enlarged tonsils (HP:0030812)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Large for gestational age (HP:0001520)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Obesity (HP:0001513)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: ALAD
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Confusion (HP:0001289)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Hypotonia (HP:0001252)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Dysarthria (HP:0001260)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Delirium (HP:0031258)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Nausea (HP:0002018)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Constipation (HP:0002019)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Diarrhea (HP:0002014)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Vomiting (HP:0002013)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Purple urine (HP:0040322)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Ventilator dependence with inability to wean (HP:0005946)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Paralysis (HP:0003470)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Abdominal colic (HP:0011848)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Paresthesia (HP:0003401)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Congenital onset (HP:0003577)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Hallucinations (HP:0000738)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Anxiety (HP:0000739)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Apathy (HP:0000741)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Depression (HP:0000716)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Autism (HP:0000717)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Restlessness (HP:0000711)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Agitation (HP:0000713)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Increased fecal coproporphyrin 3 (HP:0033010)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAD
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss; ALAD porphyria; Porphyria due to ALA dehydratase deficiency (ORPHA:100924)
Gene: ALAD
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Gene: ALAS2
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALAS2
Phenotype: Asthenia (HP:0025406)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALAS2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Dyspnea (HP:0002094)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Anemic pallor (HP:0001017)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALAS2
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Anemia (HP:0001903)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, SIDEROBLASTIC, 1 (OMIM:300751)
Gene: ALAS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALAS2
Phenotype: Pallor (HP:0000980)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALAS2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Fatigue (HP:0012378)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALAS2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: XLSA; X-linked sideroblastic anemia (ORPHA:75563)
Gene: ALAS2
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
Gene: ALB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Elevated circulating transferrin concentration (HP:0032386)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Abnormal thyroid-stimulating hormone level (HP:0031097)
Associated disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Gene: ALB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Gene: ALB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Gene: ALB
Phenotype: Hypotension (HP:0002615)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Euthyroid hyperthyroxinemia (HP:0008247)
Associated disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Gene: ALB
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Pedal edema (HP:0010741)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Low pulse pressure (HP:0030851)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Abnormal circulating free T4 concentration (HP:0033076)
Associated disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Gene: ALB
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Gene: ALB
Phenotype: Edema (HP:0000969)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Edema (HP:0000969)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Facial edema (HP:0000282)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: ANALBUMINEMIA (OMIM:616000)
Gene: ALB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Congenital analbuminemia (ORPHA:86816)
Gene: ALB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital analbuminemia (ORPHA:86816)