TaoMedAI/RareMedData huggingface dataset:
Gene: COL4A1
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Astigmatism (HP:0000483)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Microcornea (HP:0000482)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Exotropia (HP:0000577)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Visual loss (HP:0000572)
Associated disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Gene: COL4A1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Gene: COL4A1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Myopia (HP:0000545)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Subcortical heterotopia (HP:0032391)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Schizencephaly (HP:0010636)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Hemiplegia (HP:0002301)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Growth delay (HP:0001510)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A2
Phenotype: Esotropia (HP:0000565)
Associated disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Gene: COL4A3
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Lenticonus (HP:0001142)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Lenticonus (HP:0001142)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
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: COL4A3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
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: COL4A3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
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: COL4A3
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
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: COL4A3
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Nephritis (HP:0000123)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Nephritis (HP:0000123)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
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: COL4A3
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: COL4A3
Phenotype: Azotemia (HP:0002157)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Abnormal glomerular basement membrane morphology (HP:0033282)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Adult onset (HP:0003581)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
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: COL4A3
Phenotype: Progressive (HP:0003676)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Progressive (HP:0003676)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
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: COL4A3
Phenotype: Corneal erosion (HP:0200020)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
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: COL4A3
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: COL4A3
Phenotype: Reduced epidermal collagen IV alpha 5 chain staining (HP:6001026)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
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: COL4A3
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: COL4A3
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: COL4A3
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: COL4A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Hematuria (HP:0000790)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Anterior lenticonus (HP:0011501)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Hypertension (HP:0000822)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Hypertension (HP:0000822)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
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: COL4A3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Glomerular basement membrane lamellation (HP:0030034)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Glomerular basement membrane lamellation (HP:0030034)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
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: COL4A3
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Gene: COL4A3
Phenotype: Diffuse leiomyomatosis (HP:0006756)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Developmental cataract (HP:0000519)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Albuminuria (HP:0012592)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
Phenotype: Thin glomerular basement membrane (HP:0012577)
Associated disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Gene: COL4A3
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: COL4A3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Myopia (HP:0000545)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A3
Phenotype: Myopia (HP:0000545)
Associated disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Gene: COL4A4
Phenotype: Lenticonus (HP:0001142)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Proteinuria (HP:0000093)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMATURIA, BENIGN FAMILIAL (OMIM:141200)
Gene: COL4A4
Phenotype: Nephritis (HP:0000123)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Nephritis (HP:0000123)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Progressive (HP:0003676)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Progressive (HP:0003676)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Nonprogressive (HP:0003680)
Associated disease: HEMATURIA, BENIGN FAMILIAL (OMIM:141200)
Gene: COL4A4
Phenotype: Corneal erosion (HP:0200020)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Corneal erosion (HP:0200020)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Reduced epidermal collagen IV alpha 5 chain staining (HP:6001026)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Hematuria (HP:0000790)
Associated disease: HEMATURIA, BENIGN FAMILIAL (OMIM:141200)
Gene: COL4A4
Phenotype: Hematuria (HP:0000790)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Anterior lenticonus (HP:0011501)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Anterior lenticonus (HP:0011501)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Hypertension (HP:0000822)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Hypertension (HP:0000822)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Glomerular basement membrane lamellation (HP:0030034)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Glomerular basement membrane lamellation (HP:0030034)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Diffuse leiomyomatosis (HP:0006756)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Cataract (HP:0000518)
Associated disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:203780)
Gene: COL4A4
Phenotype: Developmental cataract (HP:0000519)
Associated disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Gene: COL4A4
Phenotype: Thin glomerular basement membrane (HP:0012577)
Associated disease: HEMATURIA, BENIGN FAMILIAL (OMIM:141200)