TaoMedAI/RareMedData huggingface dataset:
Gene: GMPPA
Phenotype: Ataxia (HP:0001251)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Ataxia (HP:0001251)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Spasticity (HP:0001257)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Achalasia (HP:0002571)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Achalasia (HP:0002571)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Hypotension (HP:0002615)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Dysphagia (HP:0002015)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Vomiting (HP:0002013)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Abnormality of the hypothenar eminence (HP:0010486)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Infantile onset (HP:0003593)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Congenital onset (HP:0003577)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Exodeviation (HP:0020049)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Short stature (HP:0004322)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Cough (HP:0012735)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Short philtrum (HP:0000322)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Triangular face (HP:0000325)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Strabismus (HP:0000486)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Prominent nose (HP:0000448)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Pes cavus (HP:0001761)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Alacrima (HP:0000522)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Alacrima (HP:0000522)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Weight loss (HP:0001824)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: GMPPA
Phenotype: Ptosis (HP:0000508)
Associated disease: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
Gene: GMPPA
Phenotype: Visual impairment (HP:0000505)
Associated disease: Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; 2A syndrome; 4A syndrome; Allgrove syndrome; 3A syndrome; AAA syndrome; Triple A syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Gene: SEC61A1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Increased circulating IgG2 level (HP:0032299)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Decreased urinary uromodulin level (HP:0034886)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Sepsis (HP:0100806)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Decreased specific antibody response to polysaccharide vaccine (HP:0410299)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Decreased specific antibody response to protein-conjugated polysaccharide vaccine (HP:0410302)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Proteinuria (HP:0000093)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Nephropathy (HP:0000112)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Renal cyst (HP:0000107)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Pneumonia (HP:0002090)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Pleural empyema (HP:0011919)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Impaired renal uric acid clearance (HP:0004732)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Late onset (HP:0003584)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Progressive (HP:0003676)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Verrucae (HP:0200043)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Thickening of the tubular basement membrane (HP:0020132)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Increased proportion of plasmablasts (HP:0032128)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Perianal abscess (HP:0009789)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Anemia (HP:0001903)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Anemia (HP:0001903)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Gout (HP:0001997)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Short stature (HP:0004322)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Hematuria (HP:0000790)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Recurrent gingivitis (HP:0034284)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)