TaoMedAI/RareMedData huggingface dataset:
Gene: TBXAS1
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Hyperostosis cranialis interna (HP:0005890)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Diaphyseal dysplasia (HP:0100252)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Ghosal syndrome; Diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Gene: TBXAS1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBXAS1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TBXAS1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBXAS1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GHOSAL HEMATODIAPHYSEAL DYSPLASIA (OMIM:231095)
Gene: TCF4
Phenotype: Tapered finger (HP:0001182)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Tapered finger (HP:0001182)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Motor delay (HP:0001270)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Seizure (HP:0001250)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Seizure (HP:0001250)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hypotonia (HP:0001252)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Ataxia (HP:0001251)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Clubbing (HP:0001217)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Cholestasis (HP:0001396)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Corneal guttata (HP:0012038)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Gene: TCF4
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Gene: TCF4
Phenotype: Micropenis (HP:0000054)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Micropenis (HP:0000054)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Sparse medial eyebrow (HP:0025325)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Absent speech (HP:0001344)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Absent speech (HP:0001344)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Gene: TCF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Scoliosis (HP:0002650)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Open mouth (HP:0000194)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Wide mouth (HP:0000154)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Wide mouth (HP:0000154)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Failure of eruption of permanent teeth (HP:0006352)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Constipation (HP:0002019)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Constipation (HP:0002019)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Deep philtrum (HP:0002002)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Neoplasm of the gallbladder (HP:0100575)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Adenocarcinoma of the large intestine (HP:0040275)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Polyclonal elevation of IgM (HP:0003459)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Echolalia (HP:0010529)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Overhanging nasal tip (HP:0011833)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Adult onset (HP:0003581)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Gene: TCF4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Histiocytosis (HP:0100727)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Elevated alkaline phosphatase of hepatic origin (HP:0010638)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Aphasia (HP:0002381)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Esophagitis (HP:0100633)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Small hand (HP:0200055)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Small hand (HP:0200055)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Mutism (HP:0002300)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Incoordination (HP:0002311)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Short palm (HP:0004279)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Fever (HP:0001945)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Broad fingertip (HP:0011300)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Broad fingertip (HP:0011300)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Abnormal large intestine physiology (HP:0012700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Depression (HP:0000716)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Childhood onset (HP:0011463)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Fetal nuchal edema (HP:0034250)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Eye movement-induced pain (HP:0030857)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Edema (HP:0000969)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: TCF4
Phenotype: Sacral dimple (HP:0000960)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Osteopenia (HP:0000938)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Pes valgus (HP:0008081)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Pes valgus (HP:0008081)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Full cheeks (HP:0000293)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Full cheeks (HP:0000293)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Ascites (HP:0001541)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Growth delay (HP:0001510)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Cupped ear (HP:0000378)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Thickened helices (HP:0000391)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Thickened helices (HP:0000391)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: TCF4
Phenotype: Short philtrum (HP:0000322)
Associated disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Gene: TCF4
Phenotype: Short philtrum (HP:0000322)
Associated disease: Pitt-Hopkins syndrome (ORPHA:2896)
Gene: TCF4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)