TaoMedAI/RareMedData huggingface dataset:
Gene: TREX1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Purpura (HP:0000979)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Skin rash (HP:0000988)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Dry skin (HP:0000958)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Edema (HP:0000969)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Petechiae (HP:0000967)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Arthralgia (HP:0002829)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Enchondroma (HP:0030038)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Hemianopia (HP:0012377)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Retinal cotton wool spot (HP:0031606)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Focal sensory seizure with somatosensory features (HP:0011163)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Panniculitis (HP:0012490)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Pericarditis (HP:0001701)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Strabismus (HP:0000486)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Abnormality of the hepatic vasculature (HP:0006707)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Ptosis (HP:0000508)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Visual impairment (HP:0000505)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCN11A
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Seizure (HP:0001250)
Associated disease: Familial rectal pain; Paroxysmal extreme pain disorder (ORPHA:46348)
Gene: SCN11A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)
Gene: SCN11A
Phenotype: Vasculitis (HP:0002633)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Constipation (HP:0002019)
Associated disease: Familial rectal pain; Paroxysmal extreme pain disorder (ORPHA:46348)
Gene: SCN11A
Phenotype: Constipation (HP:0002019)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Diarrhea (HP:0002014)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Hypothermia (HP:0002045)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)
Gene: SCN11A
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Poor wound healing (HP:0001058)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Erythema (HP:0010783)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Pedal edema (HP:0010741)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Leukemia (HP:0001909)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Pruritus (HP:0000989)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)
Gene: SCN11A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Gene: SCN11A
Phenotype: Allodynia (HP:0012533)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN11A
Phenotype: Pain (HP:0012531)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)
Gene: POU6F2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 5 (OMIM:601583)
Gene: POU6F2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 5 (OMIM:601583)
Gene: POU6F2
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: WILMS TUMOR 5 (OMIM:601583)
Gene: POU6F2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: POU6F2
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: PNKP
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: PNKP
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Gene: PNKP
Phenotype: Tetraplegia (HP:0002445)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Gene: PNKP
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Gene: PNKP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PNKP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)