TaoMedAI/RareMedData huggingface dataset:
Gene: HNF1B
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Precalicial canalicular ectasia; Medullary sponge kidney; MSK; Cacchi-Ricci disease (ORPHA:1309)
Gene: HNF1B
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1B
Phenotype: Papillary cystadenoma of the epididymis (HP:0009715)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated disease: Precalicial canalicular ectasia; Medullary sponge kidney; MSK; Cacchi-Ricci disease (ORPHA:1309)
Gene: HNF1B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Multiple glomerular cysts (HP:0100611)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: HNF1B
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Decreased numbers of nephrons (HP:0005563)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1B
Phenotype: Polydipsia (HP:0001959)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Gout (HP:0001997)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Short stature (HP:0004322)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Glycosuria (HP:0003076)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Hematuria (HP:0000790)
Associated disease: Precalicial canalicular ectasia; Medullary sponge kidney; MSK; Cacchi-Ricci disease (ORPHA:1309)
Gene: HNF1B
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Precalicial canalicular ectasia; Medullary sponge kidney; MSK; Cacchi-Ricci disease (ORPHA:1309)
Gene: HNF1B
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Jaundice (HP:0000952)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Precalicial canalicular ectasia; Medullary sponge kidney; MSK; Cacchi-Ricci disease (ORPHA:1309)
Gene: HNF1B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Short neck (HP:0000470)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: TCF3
Phenotype: Sepsis (HP:0100806)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Meningitis (HP:0001287)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Decreased CD8+ TEMRA T cell proportion (HP:0500266)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Arthritis (HP:0001369)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: Hepatitis (HP:0012115)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Diarrhea (HP:0002014)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Post-vaccination polio (HP:0020090)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: B Acute Lymphoblastic Leukemia (HP:0004812)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Cellulitis (HP:0100658)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Verrucae (HP:0200043)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Dehydration (HP:0001944)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Fever (HP:0001945)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Anemia (HP:0001903)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Cough (HP:0012735)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Childhood onset (HP:0011463)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Overfolded helix (HP:0000396)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Short philtrum (HP:0000322)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Increased effector memory CD8+ T cell proportion (HP:0410395)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Gene: TCF3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF3
Phenotype: Prominent stem of antihelix (HP:0011240)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Gene: TCF3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: TCF7L2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: TCF7L2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: TCF7L2
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: TCF7L2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: TCF7L2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ZEB1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Gene: ZEB1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Corneal guttata (HP:0012038)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Corneal guttata (HP:0012038)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Gene: ZEB1
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Gene: ZEB1
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: ZEB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (OMIM:613270)
Gene: ZEB1
Phenotype: Adult onset (HP:0003581)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (OMIM:609141)
Gene: ZEB1
Phenotype: Ocular pain (HP:0200026)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: ZEB1
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)