TaoMedAI/RareMedData huggingface dataset:
Gene: SSR4
Phenotype: Macrotia (HP:0000400)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Macrotia (HP:0000400)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSX1
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: SSX1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE, X-LINKED, 5 (OMIM:301099)
Gene: ST14
Phenotype: Pili torti (HP:0003777)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Curly hair (HP:0002212)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Brittle hair (HP:0002299)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Photophobia (HP:0000613)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Pruritus (HP:0000989)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Sparse hair (HP:0008070)
Associated disease: Ichthyosis-hypotrichosis syndrome; IFAH syndrome; Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; Hypotrichosis-congenital ichthyosis syndrome; Ichthyosis-follicular atrophoderma-hypotrichosis syndrome; IHS (ORPHA:91132)
Gene: ST14
Phenotype: Sparse hair (HP:0008070)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Ichthyosis-hypotrichosis syndrome; IFAH syndrome; Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; Hypotrichosis-congenital ichthyosis syndrome; Ichthyosis-follicular atrophoderma-hypotrichosis syndrome; IHS (ORPHA:91132)
Gene: ST14
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Conical primary incisor (HP:0011082)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: ST14
Phenotype: Blepharitis (HP:0000498)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Gene: STAR
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Impaired cortisol response to insulin stimulation test (HP:0031076)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hypospadias (HP:0000047)
Associated disease: LIPOID CONGENITAL ADRENAL HYPERPLASIA (OMIM:201710)
Gene: STAR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Azoospermia (HP:0000027)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPOID CONGENITAL ADRENAL HYPERPLASIA (OMIM:201710)
Gene: STAR
Phenotype: Hypotension (HP:0002615)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: LIPOID CONGENITAL ADRENAL HYPERPLASIA (OMIM:201710)
Gene: STAR
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Constipation (HP:0002019)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Diarrhea (HP:0002014)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Congenital adrenal hyperplasia (HP:0008258)
Associated disease: LIPOID CONGENITAL ADRENAL HYPERPLASIA (OMIM:201710)
Gene: STAR
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Adrenogenital syndrome (HP:0000840)
Associated disease: LIPOID CONGENITAL ADRENAL HYPERPLASIA (OMIM:201710)
Gene: STAR
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Abnormal circulating adrenocorticotropin concentration (HP:0011043)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAR
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: STAT1
Phenotype: Coccidioidomycosis (HP:0032249)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Disseminated histoplasmosis (HP:0032257)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Intussusception (HP:0002576)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Pulmonary nodule (HP:0033608)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 31B (OMIM:613796)
Gene: STAT1
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Oropharyngeal squamous cell carcinoma (HP:0012182)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Hepatitis (HP:0012115)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Diarrhea (HP:0002014)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Gastrointestinal eosinophilia (HP:0032064)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Medial calcification of large arteries (HP:0004966)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Short stature (HP:0004322)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Enterocolitis (HP:0004387)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Cough (HP:0012735)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 31B (OMIM:613796)
Gene: STAT1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Primary hypothyroidism (HP:0000832)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Onychomycosis (HP:0012203)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Recurrent vulvovaginal candidiasis (HP:0012204)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Growth delay (HP:0001510)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Fatigue (HP:0012378)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Gene: STAT1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: IMMUNODEFICIENCY 31B (OMIM:613796)
Gene: STAT1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Gene: STAT1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Gene: STAT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 31C (OMIM:614162)