TaoMedAI/RareMedData huggingface dataset:
Gene: ACTG1
Phenotype: Coloboma (HP:0000589)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG1
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTG1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Gene: ACTG2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Sepsis (HP:0100806)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Hydroureter (HP:0000072)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Megacystis (HP:0000021)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Megacystis (HP:0000021)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Megacystis (HP:0000021)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Megacystis (HP:0000021)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Urinary retention (HP:0000016)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Constipation (HP:0002019)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Megaduodenum (HP:0030996)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Diarrhea (HP:0002014)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Dysphagia (HP:0002015)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Vomiting (HP:0002013)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Neoplasm of the heart (HP:0100544)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Microcolon (HP:0004388)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Microcolon (HP:0004388)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Microcolon (HP:0004388)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Malnutrition (HP:0004395)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Fetal onset (HP:0011461)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Thinning of outer muscular layer of small bowel (HP:6000072)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 (OMIM:619431)
Gene: ACTG2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: ACTG2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Round face (HP:0000311)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Pancreatitis (HP:0001733)
Associated disease: VISCERAL MYOPATHY (OMIM:155310)
Gene: ACTG2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Anonychia (HP:0001798)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTG2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Familial hollow visceral myopathy; Megaduodenum and/or megacystis; Familial visceral myopathy; Hereditary hollow visceral myopathy (ORPHA:2604)
Gene: ACTN4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Slowly progressive (HP:0003677)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Anemia (HP:0001903)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Hypertension (HP:0000822)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Edema (HP:0000969)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Ascites (HP:0001541)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Gene: ACTN4
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN4
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ACTN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN1
Phenotype: Platelet anisocytosis (HP:0032438)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN1
Phenotype: Impaired clot retraction (HP:0031126)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN1
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN1
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN1
Phenotype: Epistaxis (HP:0000421)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 15 (OMIM:615193)
Gene: ACTN2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTN2
Phenotype: Abnormal Z disk morphology (HP:0020202)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Z-band streaming (HP:0020203)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Gene: ACTN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Gene: ACTN2
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Gene: ACTN2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)