TaoMedAI/RareMedData huggingface dataset:
Gene: PRKAR1A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Cutaneous myxoma (HP:0030428)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Myxoid subcutaneous tumors (HP:0006769)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Long hallux (HP:0001847)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Weight loss (HP:0001824)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Telecanthus (HP:0000506)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Short toe (HP:0001831)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1B
Phenotype: Tapered finger (HP:0001182)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Language impairment (HP:0002463)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Seizure (HP:0001250)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Falls (HP:0002527)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Tremor (HP:0001337)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Postural instability (HP:0002172)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Congenital onset (HP:0003577)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Hemidystonia (HP:0032005)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Shuffling gait (HP:0002362)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Memory impairment (HP:0002354)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Motor deterioration (HP:0002333)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Sensory seeking (HP:4000079)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Anxiety (HP:0000739)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Short attention span (HP:0000736)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Apathy (HP:0000741)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Dementia (HP:0000726)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Abnormal neuron morphology (HP:0012757)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Happy demeanor (HP:0040082)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Obesity (HP:0001513)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Speech apraxia (HP:0011098)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Round face (HP:0000311)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Inertia (HP:0030216)
Associated disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Gene: PRKAR1B
Phenotype: Astigmatism (HP:0000483)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Torticollis (HP:0000473)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKAR1B
Phenotype: Esotropia (HP:0000565)
Associated disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Gene: PRKCD
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Absent isohemagglutinin level (HP:0410293)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Obstruction of the superior vena cava (HP:0031041)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Arthritis (HP:0001369)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Erythematous macule (HP:0025475)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent infections (HP:0002719)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Increased CD21low B cell proportion (HP:0033207)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Anticardiolipin IgG antibody positivity (HP:0020136)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Alopecia (HP:0001596)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Autoimmunity (HP:0002960)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Membranous nephropathy (HP:0012578)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCD
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Gene: PRKCG
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Tremor (HP:0001337)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Myoclonus (HP:0001336)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Rigidity (HP:0002063)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Memory impairment (HP:0002354)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Gene: PRKCG
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Gene: PRKCG
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)