TaoMedAI/RareMedData huggingface dataset:
Gene: CFHR3
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Purpura (HP:0000979)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Macular hemorrhage (HP:0025574)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Geographic atrophy (HP:0031609)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Decreased circulating complement factor I concentration (HP:0005356)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Decreased circulating complement factor H concentration (HP:0005369)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Decreased circulating complement factor B concentration (HP:0005416)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR3
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: ACTL7A
Phenotype: Ruffled acrosome (HP:6000501)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: ACTL7A
Phenotype: Acrosomal hypoplasia (HP:0034913)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: ACTL7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: ACTL7A
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: ACTL7A
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: ACTL7A
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: ACTL7A
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Gene: PPARGC1A
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PPARGC1A
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MALT1
Phenotype: Cheilitis (HP:0100825)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Absent isohemagglutinin level (HP:0410293)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Clubbing (HP:0001217)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Posterior uveitis (HP:0012123)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Constipation (HP:0002019)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Fever (HP:0001945)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Anemia (HP:0001903)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Death in adolescence (HP:0011421)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Abnormal lymphocyte count (HP:0040088)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Mastoiditis (HP:0000265)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Fatigue (HP:0012378)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: IMMUNODEFICIENCY 12 (OMIM:615468)
Gene: MALT1
Phenotype: Weight loss (HP:0001824)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: MALT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: LYVE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: LYVE1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TXNL4A
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Cleft palate (HP:0000175)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Congenital onset (HP:0003577)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Bilateral choanal atresia/stenosis (HP:0200138)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Short stature (HP:0004322)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Short stature (HP:0004322)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Short nose (HP:0003196)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Hypomimic face (HP:0000338)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Micrognathia (HP:0000347)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Short philtrum (HP:0000322)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)