C1 set domains (antibody constant domain-like) family

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: All beta proteins [ 48724] (174)
• Fold: Immunoglobulin-like beta-sandwich [ 48725] (28)
• Superfamily: Immunoglobulin [ 48726] (4)
• Family: C1 set domains (antibody constant domain-like) [ 48942] (23)

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Family statistics

	Genomes (50)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	2,954	23,383	988
Proteins	2,739	22,744	954

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Disease Ontology (DO)

Highlighted in gray are those with FDR_all>0.001

	DO term	FDR (all)	IC level	SDDO level	Annotation (direct or inherited)
Disease Ontology (DO)	demyelinating disease	0.0000000000007347	1.367	--	DIRECT
Disease Ontology (DO)	diabetes mellitus	0.00000001293	1.61	--	DIRECT
Disease Ontology (DO)	bone inflammation disease	0.00000009768	1.309	--	DIRECT
Disease Ontology (DO)	thyroiditis	0.0000001479	2.212	--	DIRECT
Disease Ontology (DO)	lymph node disease	0.0000001909	1.668	--	DIRECT
Disease Ontology (DO)	bone disease	0.00000138	1.171	--	DIRECT
Disease Ontology (DO)	immune system disease	0.00000608	0.8411	--	DIRECT
Disease Ontology (DO)	skin disease	0.00002353	1.022	--	DIRECT
Disease Ontology (DO)	neuromuscular junction disease	0.0000255	2.212	--	DIRECT
Disease Ontology (DO)	alopecia	0.0000255	1.735	--	DIRECT
Disease Ontology (DO)	autoimmune disease of endocrine system	0.00005832	1.911	--	DIRECT
Disease Ontology (DO)	primary bacterial infectious disease	0.00007774	1.212	--	DIRECT
Disease Ontology (DO)	metal metabolism disorder	0.00008422	2.212	--	DIRECT
Disease Ontology (DO)	allergic rhinitis	0.0005818	1.668	--	DIRECT
Disease Ontology (DO)	nasal cavity disease	0.00064	1.668	--	DIRECT
Disease Ontology (DO)	leukemia	0.0006784	1.151	--	DIRECT
Disease Ontology (DO)	nose disease	0.0007644	1.668	--	DIRECT
Disease Ontology (DO)	severe combined immunodeficiency	0.0008321	2.513	--	DIRECT
Disease Ontology (DO)	disease of anatomical entity	0.0008985	0.2414	--	DIRECT
Disease Ontology (DO)	peripheral nervous system disease	0.001276	1.814	--	INHERITED FROM: neuromuscular junction disease
Disease Ontology (DO)	uveal disease	0.002463	2.212	--	INHERITED FROM: uveitis
Disease Ontology (DO)	hepatobiliary disease	0.003876	1.472	--	INHERITED FROM: liver disease || intrahepatic cholestasis
Disease Ontology (DO)	immune system cancer	0.005224	0.89	--	INHERITED FROM: leukemia || chronic leukemia
Disease Ontology (DO)	musculoskeletal system disease	0.006076	0.89	--	INHERITED FROM: rheumatic fever || spondylitis || connective tissue disease || bone disease || bone inflammation disease
Disease Ontology (DO)	endocrine system disease	0.007011	1.309	--	INHERITED FROM: thyroiditis
Disease Ontology (DO)	biliary tract disease	0.007534	1.814	--	INHERITED FROM: intrahepatic cholestasis
Disease Ontology (DO)	lymphatic system disease	0.01119	1.668	--	INHERITED FROM: Kawasaki disease || lymph node disease
Disease Ontology (DO)	hair disease	0.01156	1.668	--	INHERITED FROM: hypotrichosis || alopecia
Disease Ontology (DO)	autosomal genetic disease	0.01327	1.133	--	INHERITED FROM: autosomal recessive disease || sickle cell anemia
Disease Ontology (DO)	respiratory system disease	0.01329	0.9334	--	INHERITED FROM: nose disease || nasal cavity disease || allergic rhinitis
Disease Ontology (DO)	monogenic disease	0.01656	1.115	--	INHERITED FROM: sickle cell anemia || autosomal recessive disease
Disease Ontology (DO)	combined T cell and B cell immunodeficiency	0.02506	2.513	--	INHERITED FROM: severe combined immunodeficiency
Disease Ontology (DO)	hypersensitivity reaction type IV disease	0.0251	1.911	--	INHERITED FROM: sarcoidosis
Disease Ontology (DO)	bacterial infectious disease	0.05047	1.191	--	INHERITED FROM: primary bacterial infectious disease
Disease Ontology (DO)	central nervous system disease	0.05487	0.8698	--	INHERITED FROM: demyelinating disease || neuromyelitis optica || multiple sclerosis
Disease Ontology (DO)	carbohydrate metabolism disease	0.06292	1.559	--	INHERITED FROM: diabetes mellitus
Disease Ontology (DO)	eye and adnexa disease	0.06345	1.472	--	INHERITED FROM: uveitis
Disease Ontology (DO)	acquired metabolic disease	0.0983	1.191	--	INHERITED FROM: diabetes mellitus
Disease Ontology (DO)	dermatitis	0.2179	1.283	--	INHERITED FROM: pemphigus
Disease Ontology (DO)	cholestasis	0.2523	1.911	--	INHERITED FROM: intrahepatic cholestasis
Disease Ontology (DO)	cancer	0.2995	0.2555	--	INHERITED FROM: chronic leukemia || leukemia
Disease Ontology (DO)	cardiovascular system disease	0.3181	0.7889	--	INHERITED FROM: vasculitis || Behcet's disease
Disease Ontology (DO)	hypersensitivity reaction disease	0.3253	0.8505	--	INHERITED FROM: autoimmune disease of endocrine system || Graves' disease || sarcoidosis || hypersensitivity reaction type II disease
Disease Ontology (DO)	disease of cellular proliferation	0.3364	0.2322	--	INHERITED FROM: chronic leukemia || leukemia
Disease Ontology (DO)	spondyloarthropathy	0.4194	1.814	--	INHERITED FROM: spondylitis
Disease Ontology (DO)	blood coagulation disease	0.5004	1.258	--	INHERITED FROM: hemorrhagic disease || vascular hemostatic disease
Disease Ontology (DO)	inherited metabolic disorder	0.5951	1.337	--	INHERITED FROM: hemochromatosis || metal metabolism disorder
Disease Ontology (DO)	vascular disease	0.6797	0.832	--	INHERITED FROM: vasculitis || Behcet's disease
Disease Ontology (DO)	sensory system disease	0.7631	1.399	--	INHERITED FROM: uveitis
Disease Ontology (DO)	lymphadenitis	1	1.668	--	INHERITED FROM: Kawasaki disease
Disease Ontology (DO)	bile duct disease	1	1.814	--	INHERITED FROM: intrahepatic cholestasis
Disease Ontology (DO)	rhinitis	1	1.668	--	INHERITED FROM: allergic rhinitis
Disease Ontology (DO)	neuropathy	1	1.814	--	INHERITED FROM: neuromuscular junction disease
Disease Ontology (DO)	nervous system disease	0.008057	0.7279	Least Informative	INHERITED FROM: neuromuscular junction disease || demyelinating disease || multiple sclerosis || neuromyelitis optica || uveitis
Disease Ontology (DO)	organ system cancer	0.1708	0.4879	Least Informative	INHERITED FROM: leukemia || chronic leukemia
Disease Ontology (DO)	hypersensitivity reaction type II disease	0.00000001975	0.8797	Moderately Informative	DIRECT
Disease Ontology (DO)	disease of metabolism	0.0000001644	0.9817	Moderately Informative	DIRECT
Disease Ontology (DO)	disease by infectious agent	0.000003199	0.8142	Moderately Informative	DIRECT
Disease Ontology (DO)	hematopoietic system disease	0.00001823	1.051	Moderately Informative	DIRECT
Disease Ontology (DO)	connective tissue disease	0.00002395	1.022	Moderately Informative	DIRECT
Disease Ontology (DO)	gastrointestinal system disease	0.0002952	0.8797	Moderately Informative	DIRECT
Disease Ontology (DO)	integumentary system disease	0.0009343	0.9817	Moderately Informative	DIRECT
Disease Ontology (DO)	hematologic cancer	0.00292	0.89	Moderately Informative	INHERITED FROM: leukemia || chronic leukemia
Disease Ontology (DO)	genetic disease	0.03188	1.066	Moderately Informative	INHERITED FROM: autosomal recessive disease || sickle cell anemia
Disease Ontology (DO)	neurodegenerative disease	0.03351	1.022	Moderately Informative	INHERITED FROM: multiple sclerosis || demyelinating disease
Disease Ontology (DO)	syndrome	0.1674	1.151	Moderately Informative	INHERITED FROM: psoriatic arthritis
Disease Ontology (DO)	multiple sclerosis	0.0000000000006131	1.399	Informative	DIRECT
Disease Ontology (DO)	liver disease	0.00000002503	1.513	Informative	DIRECT
Disease Ontology (DO)	Kawasaki disease	0.0000001129	1.668	Informative	DIRECT
Disease Ontology (DO)	vasculitis	0.00003333	1.668	Informative	DIRECT
Disease Ontology (DO)	hypotrichosis	0.00004805	1.668	Informative	DIRECT
Disease Ontology (DO)	hemorrhagic disease	0.0003129	1.513	Informative	DIRECT
Disease Ontology (DO)	autosomal recessive disease	0.0003588	1.472	Informative	DIRECT
Disease Ontology (DO)	arthropathy	0.01104	1.735	Informative	INHERITED FROM: spondylitis
Disease Ontology (DO)	bullous skin disease	0.01245	1.472	Informative	INHERITED FROM: pemphigus
Disease Ontology (DO)	upper respiratory tract disease	0.04475	1.472	Informative	INHERITED FROM: allergic rhinitis || nose disease || nasal cavity disease
Disease Ontology (DO)	eye disease	0.06102	1.472	Informative	INHERITED FROM: uveitis
Disease Ontology (DO)	glucose metabolism disease	1	1.559	Informative	INHERITED FROM: diabetes mellitus
Disease Ontology (DO)	Graves' disease	0.00000000007061	1.911	Highly Informative	DIRECT
Disease Ontology (DO)	psoriatic arthritis	0.0000003861	2.036	Highly Informative	DIRECT
Disease Ontology (DO)	sickle cell anemia	0.0000009922	2.212	Highly Informative	DIRECT
Disease Ontology (DO)	Behcet's disease	0.000001341	1.814	Highly Informative	DIRECT
Disease Ontology (DO)	hemochromatosis	0.0000018	2.212	Highly Informative	DIRECT
Disease Ontology (DO)	spondylitis	0.000008751	2.036	Highly Informative	DIRECT
Disease Ontology (DO)	neuromyelitis optica	0.00001489	2.212	Highly Informative	DIRECT
Disease Ontology (DO)	pemphigus	0.00001789	1.911	Highly Informative	DIRECT
Disease Ontology (DO)	sarcoidosis	0.00002391	1.911	Highly Informative	DIRECT
Disease Ontology (DO)	intrahepatic cholestasis	0.00003804	1.911	Highly Informative	DIRECT
Disease Ontology (DO)	vascular hemostatic disease	0.00007335	2.212	Highly Informative	DIRECT
Disease Ontology (DO)	uveitis	0.0001274	2.212	Highly Informative	DIRECT
Disease Ontology (DO)	rheumatic fever	0.0002952	2.212	Highly Informative	DIRECT
Disease Ontology (DO)	chronic leukemia	0.0008331	1.911	Highly Informative	DIRECT
Disease Ontology (DO)	thyroid gland disease	0.001791	2.036	Highly Informative	INHERITED FROM: thyroiditis
Disease Ontology (DO)	neuromuscular disease	0.02601	2.036	Highly Informative	INHERITED FROM: neuromuscular junction disease
Disease Ontology (DO)	primary immunodeficiency disease	0.4258	2.036	Highly Informative	INHERITED FROM: severe combined immunodeficiency

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Human Phenotype (HP)

Highlighted in gray are those with FDR_all>0.001

	HP term	FDR (all)	IC level	SDHP level	Annotation (direct or inherited)
Mode of Inheritance (MI)	Multifactorial inheritance	0.00000000216	1.72	Informative	DIRECT
Phenotypic Abnormality (PA)	Unusual CNS infection	0.00000387	1.617	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal pericardium morphology	0.00005322	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Keratoconjunctivitis sicca	0.00008043	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abdominal pain	0.0001209	1.684	--	DIRECT
Phenotypic Abnormality (PA)	Aphthous ulcer	0.0001688	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the paranasal sinuses	0.0002651	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal bronchus morphology	0.0003105	2.161	--	DIRECT
Phenotypic Abnormality (PA)	Chronic otitis media	0.0003812	2.462	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal immunoglobulin level	0.0004008	1.763	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of B cell physiology	0.0004266	1.684	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal conjunctiva morphology	0.0005821	1.86	--	DIRECT
Phenotypic Abnormality (PA)	Constitutional symptom	0.0009042	1.258	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the skin	0.001149	0.722	--	INHERITED FROM: Abnormality of skin physiology || Skin ulcer
Phenotypic Abnormality (PA)	Abnormal corneal epithelium morphology	0.002177	1.763	--	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Serositis	0.002446	2.161	--	INHERITED FROM: Pericarditis
Phenotypic Abnormality (PA)	Abnormal nephron morphology	0.002572	1.763	--	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormal lung morphology	0.002974	1.207	--	INHERITED FROM: Abnormality of the pleura || Pulmonary infiltrates
Phenotypic Abnormality (PA)	Abnormality of the vasculature of the eye	0.003435	1.763	--	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormal tracheobronchial morphology	0.005824	1.763	--	INHERITED FROM: Abnormal bronchus morphology || Bronchiectasis
Phenotypic Abnormality (PA)	Abnormal renal corpuscle morphology	0.007693	1.763	--	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormal cellular phenotype	0.0101	1.462	--	INHERITED FROM: Abnormality of B cell physiology || Abnormal immunoglobulin level
Phenotypic Abnormality (PA)	Abnormal renal cortex morphology	0.01226	1.763	--	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Decreased body weight	0.01692	1.286	--	INHERITED FROM: Weight loss
Phenotypic Abnormality (PA)	Abdominal symptom	0.01699	1.161	--	INHERITED FROM: Abdominal pain
Phenotypic Abnormality (PA)	Red eye	0.01919	1.86	--	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of the vasculature	0.02563	0.7142	--	INHERITED FROM: Vasculitis || Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of the respiratory system	0.02912	0.9183	--	INHERITED FROM: Cough || Abnormal sputum || Abnormality of the pleura || Pulmonary infiltrates || Abnormal bronchus morphology || Bronchiectasis
Phenotypic Abnormality (PA)	Abnormal lymphocyte physiology	0.03909	1.684	--	INHERITED FROM: Abnormality of B cell physiology || Abnormal immunoglobulin level
Phenotypic Abnormality (PA)	Abnormal inflammatory response	0.04857	1.161	--	INHERITED FROM: Recurrent aphthous stomatitis || Pericarditis || Inflammatory abnormality of the eye || Keratoconjunctivitis sicca || Chronic otitis media
Phenotypic Abnormality (PA)	Abnormal oral mucosa morphology	0.04903	1.258	--	INHERITED FROM: Recurrent aphthous stomatitis || Aphthous ulcer
Phenotypic Abnormality (PA)	Abnormality of humoral immunity	0.06581	1.286	--	INHERITED FROM: Abnormal immunoglobulin level
Phenotypic Abnormality (PA)	Keratoconjunctivitis	0.0761	2.462	--	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of the middle ear	0.07698	1.763	--	INHERITED FROM: Chronic otitis media
Phenotypic Abnormality (PA)	Abnormality of the skeletal system	0.1035	0.4712	--	INHERITED FROM: Abnormality of the paranasal sinuses || Chest pain
Phenotypic Abnormality (PA)	Abnormality of the pancreas	0.1089	1.763	--	INHERITED FROM: Abnormality of pancreas physiology
Phenotypic Abnormality (PA)	Morphological abnormality of the gastrointestinal tract	0.159	1.184	--	INHERITED FROM: Abnormal intestine morphology
Phenotypic Abnormality (PA)	Abnormality of the mouth	0.1726	0.7065	--	INHERITED FROM: Aphthous ulcer || Recurrent aphthous stomatitis
Phenotypic Abnormality (PA)	Abnormal eye morphology	0.1754	0.7812	--	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormal ear morphology	0.1968	1.047	--	INHERITED FROM: Chronic otitis media
Phenotypic Abnormality (PA)	Abnormality of the urinary system	0.2076	0.8496	--	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormality of the kidney	0.209	1.258	--	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormality of the head	0.2475	0.4538	--	INHERITED FROM: Abnormality of the paranasal sinuses || Abnormal conjunctiva morphology || Keratoconjunctivitis sicca || Aphthous ulcer || Recurrent aphthous stomatitis
Phenotypic Abnormality (PA)	Abnormality of head or neck	0.257	0.4454	--	INHERITED FROM: Abnormal conjunctiva morphology || Abnormality of the paranasal sinuses || Keratoconjunctivitis sicca || Aphthous ulcer || Recurrent aphthous stomatitis
Phenotypic Abnormality (PA)	Unusual infection	0.2612	1.184	--	INHERITED FROM: Unusual CNS infection || Recurrent infections || Meningitis
Phenotypic Abnormality (PA)	Growth abnormality	0.3226	0.7903	--	INHERITED FROM: Weight loss
Phenotypic Abnormality (PA)	Abnormality of the ocular adnexa	0.4458	1.082	--	INHERITED FROM: Abnormal conjunctiva morphology || Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of renal glomerulus morphology	0.4615	1.763	--	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Morphological abnormality of the central nervous system	0.5408	0.533	--	INHERITED FROM: Unusual CNS infection || Meningitis
Phenotypic Abnormality (PA)	Abnormal hair morphology	0.5614	1.207	--	INHERITED FROM: Alopecia
Phenotypic Abnormality (PA)	Abnormality of the orbital region	0.6069	1.082	--	INHERITED FROM: Keratoconjunctivitis sicca || Abnormal conjunctiva morphology
Phenotypic Abnormality (PA)	Abnormality of the nervous system	0.6286	0.2371	--	INHERITED FROM: Peripheral neuropathy || Meningitis || Unusual CNS infection
Phenotypic Abnormality (PA)	Abnormality of cardiovascular system morphology	0.643	0.8391	--	INHERITED FROM: Abnormal pericardium morphology || Vasculitis || Pericarditis
Phenotypic Abnormality (PA)	Abnormal oral morphology	0.7066	0.7381	--	INHERITED FROM: Recurrent aphthous stomatitis || Aphthous ulcer
Phenotypic Abnormality (PA)	Abnormal skull morphology	0.9482	0.8826	--	INHERITED FROM: Abnormality of the paranasal sinuses
Phenotypic Abnormality (PA)	Abnormal axial skeleton morphology	0.9998	0.6771	--	INHERITED FROM: Chest pain || Abnormality of the paranasal sinuses
Phenotypic Abnormality (PA)	Abnormality of skin morphology	1	0.7722	--	INHERITED FROM: Skin ulcer
Phenotypic Abnormality (PA)	Increased inflammatory response	1	1.207	--	INHERITED FROM: Keratoconjunctivitis sicca || Chronic otitis media || Inflammatory abnormality of the eye || Recurrent aphthous stomatitis || Pericarditis
Phenotypic Abnormality (PA)	Abnormality of the immune system	0.00001626	0.7464	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the integument	0.006884	0.6235	Least Informative	INHERITED FROM: Alopecia || Abnormality of skin physiology || Skin ulcer
Phenotypic Abnormality (PA)	Abnormality of metabolism/homeostasis	0.07436	0.5486	Least Informative	INHERITED FROM: Abnormal erythrocyte sedimentation rate || Abnormality of B cell physiology || Abnormal immunoglobulin level
Phenotypic Abnormality (PA)	Abnormality of skeletal morphology	0.08015	0.513	Least Informative	INHERITED FROM: Chest pain || Abnormality of the paranasal sinuses
Phenotypic Abnormality (PA)	Abnormality of the eye	0.1907	0.5703	Least Informative	INHERITED FROM: Inflammatory abnormality of the eye || Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of the cardiovascular system	0.2029	0.5179	Least Informative	INHERITED FROM: Abnormal pericardium morphology || Vasculitis || Pericarditis || Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of the digestive system	0.2731	0.5759	Least Informative	INHERITED FROM: Abnormality of pancreas physiology || Abnormal intestine morphology || Abdominal pain
Phenotypic Abnormality (PA)	Abnormality of nervous system morphology	0.3199	0.4756	Least Informative	INHERITED FROM: Peripheral neuropathy || Meningitis || Unusual CNS infection
Phenotypic Abnormality (PA)	Abnormality of the genitourinary system	0.3201	0.6051	Least Informative	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormality of the face	0.5423	0.533	Least Informative	INHERITED FROM: Aphthous ulcer || Abnormal conjunctiva morphology || Recurrent aphthous stomatitis || Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormal peripheral nervous system morphology	0.002006	1.232	Moderately Informative	INHERITED FROM: Peripheral neuropathy
Phenotypic Abnormality (PA)	Abnormality of the abdominal organs	0.002975	1.031	Moderately Informative	INHERITED FROM: Abnormality of pancreas physiology
Phenotypic Abnormality (PA)	Abnormality of digestive system morphology	0.008371	1.184	Moderately Informative	INHERITED FROM: Abnormal intestine morphology
Phenotypic Abnormality (PA)	Abnormality of the gastrointestinal tract	0.01358	1.031	Moderately Informative	INHERITED FROM: Abnormal intestine morphology
Phenotypic Abnormality (PA)	Abnormality of body weight	0.05148	1.12	Moderately Informative	INHERITED FROM: Weight loss
Phenotypic Abnormality (PA)	Abnormality of digestive system physiology	0.05777	0.9572	Moderately Informative	INHERITED FROM: Abdominal pain
Phenotypic Abnormality (PA)	Abnormal respiratory system morphology	0.07334	1.064	Moderately Informative	INHERITED FROM: Abnormality of the pleura || Abnormal sputum || Bronchiectasis || Abnormal bronchus morphology || Pulmonary infiltrates
Phenotypic Abnormality (PA)	Localized skin lesion	0.07749	1.161	Moderately Informative	INHERITED FROM: Skin ulcer
Phenotypic Abnormality (PA)	Abnormality of immune system physiology	0.1175	0.8942	Moderately Informative	INHERITED FROM: Chronic otitis media || Inflammatory abnormality of the eye || Pericarditis || Abnormal immunoglobulin level || Recurrent infections || Keratoconjunctivitis sicca || Unusual CNS infection || Recurrent aphthous stomatitis || Abnormality of B cell physiology || Meningitis
Phenotypic Abnormality (PA)	Abnormality of the endocrine system	0.1379	0.9183	Moderately Informative	INHERITED FROM: Diabetes insipidus
Phenotypic Abnormality (PA)	Abnormality of the thorax	0.1767	1.207	Moderately Informative	INHERITED FROM: Chest pain
Phenotypic Abnormality (PA)	Abnormal heart morphology	0.2157	0.9183	Moderately Informative	INHERITED FROM: Pericarditis || Abnormal pericardium morphology
Phenotypic Abnormality (PA)	Abnormality of the ear	0.2876	0.9572	Moderately Informative	INHERITED FROM: Chronic otitis media
Phenotypic Abnormality (PA)	Abnormality of the upper urinary tract	0.4277	1.12	Moderately Informative	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormal ocular adnexa morphology	0.4328	1.082	Moderately Informative	INHERITED FROM: Abnormal conjunctiva morphology || Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormal anterior eye segment morphology	0.445	1.12	Moderately Informative	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormal eye physiology	0.5125	0.7903	Moderately Informative	INHERITED FROM: Keratoconjunctivitis sicca || Inflammatory abnormality of the eye
Phenotypic Abnormality (PA)	Abnormality of skin adnexa morphology	0.5287	1.184	Moderately Informative	INHERITED FROM: Alopecia
Phenotypic Abnormality (PA)	Abnormal vascular morphology	0.5362	1.207	Moderately Informative	INHERITED FROM: Vasculitis
Phenotypic Abnormality (PA)	Abnormal oral cavity morphology	1	0.8289	Moderately Informative	INHERITED FROM: Aphthous ulcer || Recurrent aphthous stomatitis
Phenotypic Abnormality (PA)	Inflammatory abnormality of the eye	0.000004436	1.617	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of skin physiology	0.00002266	1.684	Informative	DIRECT
Phenotypic Abnormality (PA)	Peripheral neuropathy	0.000128	1.421	Informative	DIRECT
Phenotypic Abnormality (PA)	Weight loss	0.0001755	1.559	Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal intestine morphology	0.0004163	1.421	Informative	DIRECT
Phenotypic Abnormality (PA)	Recurrent infections	0.0004738	1.383	Informative	DIRECT
Phenotypic Abnormality (PA)	Unusual infection by anatomical site	0.001071	1.559	Informative	INHERITED FROM: Meningitis || Unusual CNS infection
Phenotypic Abnormality (PA)	Abnormal hair quantity	0.02284	1.559	Informative	INHERITED FROM: Alopecia
Phenotypic Abnormality (PA)	Abnormal cellular physiology	0.03056	1.462	Informative	INHERITED FROM: Abnormal immunoglobulin level || Abnormality of B cell physiology
Phenotypic Abnormality (PA)	Stomatitis	0.03198	1.617	Informative	INHERITED FROM: Recurrent aphthous stomatitis
Phenotypic Abnormality (PA)	Abnormality of the upper respiratory tract	0.2319	1.508	Informative	INHERITED FROM: Bronchiectasis || Abnormal bronchus morphology
Phenotypic Abnormality (PA)	Pain	0.2811	1.383	Informative	INHERITED FROM: Arthralgia || Abdominal pain || Chest pain
Phenotypic Abnormality (PA)	Abnormal renal morphology	0.3624	1.421	Informative	INHERITED FROM: Glomerulopathy
Phenotypic Abnormality (PA)	Abnormal cornea morphology	0.3939	1.383	Informative	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Functional respiratory abnormality	0.5772	1.348	Informative	INHERITED FROM: Cough
Phenotypic Abnormality (PA)	Arthralgia	0.000000246	1.763	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Meningitis	0.000001278	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Pericarditis	0.000004725	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Cough	0.00001618	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Bronchiectasis	0.0001058	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Skin ulcer	0.0001506	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Recurrent aphthous stomatitis	0.0001688	1.86	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Glomerulopathy	0.0002528	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Alopecia	0.0002626	1.86	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal sputum	0.0004641	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Pulmonary infiltrates	0.0005411	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the pleura	0.0005728	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal erythrocyte sedimentation rate	0.0005757	1.86	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Diabetes insipidus	0.0006282	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of pancreas physiology	0.0006641	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Vasculitis	0.0006777	1.985	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Chest pain	0.000703	2.161	Highly Informative	DIRECT
Phenotypic Abnormality (PA)	Otitis media	0.1457	1.985	Highly Informative	INHERITED FROM: Chronic otitis media
Phenotypic Abnormality (PA)	Conjunctivitis	0.2209	1.86	Highly Informative	INHERITED FROM: Keratoconjunctivitis sicca
Phenotypic Abnormality (PA)	Abnormality of facial skeleton	0.2848	1.86	Highly Informative	INHERITED FROM: Abnormality of the paranasal sinuses
Phenotypic Abnormality (PA)	Keratitis	0.3179	2.161	Highly Informative	INHERITED FROM: Keratoconjunctivitis sicca

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Mouse Phenotype (MP)

Highlighted in gray are those with FDR_all>0.001

	MP term	FDR (all)	IC level	SDMP level	Annotation (direct or inherited)
Mammalian Phenotype (MP)	abnormal blood cell physiology	0.0000001121	0.8789	--	DIRECT
Mammalian Phenotype (MP)	abnormal mononuclear cell morphology	0.0000002303	0.8473	--	DIRECT
Mammalian Phenotype (MP)	abnormal leukocyte cell number	0.0000003148	0.9129	--	DIRECT
Mammalian Phenotype (MP)	absent CD8-positive, alpha-beta T cells	0.0002403	2.302	--	DIRECT
Mammalian Phenotype (MP)	autoimmune response	0.0004436	1.324	--	DIRECT
Mammalian Phenotype (MP)	abnormal self tolerance	0.0004589	1.324	--	DIRECT
Mammalian Phenotype (MP)	abnormal IgG level	0.000473	1.562	--	DIRECT
Mammalian Phenotype (MP)	abnormal B lymphocyte antigen presentation	0.0005177	1.758	--	DIRECT
Mammalian Phenotype (MP)	abnormal paired-pulse facilitation	0.001023	2.001	--	INHERITED FROM: enhanced paired-pulse facilitation
Mammalian Phenotype (MP)	abnormal immune cell physiology	0.005265	0.9219	--	INHERITED FROM: abnormal leukocyte physiology || abnormal IgG level || abnormal cytotoxic T cell physiology || abnormal B lymphocyte antigen presentation
Mammalian Phenotype (MP)	abnormal cell-mediated immunity	0.005756	0.9219	--	INHERITED FROM: abnormal cytotoxic T cell physiology || abnormal IgG level || abnormal leukocyte physiology || abnormal B lymphocyte antigen presentation
Mammalian Phenotype (MP)	abnormal adaptive immunity	0.006946	0.9219	--	INHERITED FROM: abnormal cytotoxic T cell physiology || abnormal IgG level || abnormal leukocyte physiology || abnormal B lymphocyte antigen presentation
Mammalian Phenotype (MP)	abnormal CD8-positive, alpha-beta T cell physiology	0.009701	2.001	--	INHERITED FROM: abnormal cytotoxic T cell physiology
Mammalian Phenotype (MP)	abnormal T cell number	0.02243	1.261	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal interferon secretion	0.04372	1.373	--	INHERITED FROM: abnormal interferon-gamma secretion
Mammalian Phenotype (MP)	abnormal lymphocyte physiology	0.0443	1.112	--	INHERITED FROM: abnormal cytotoxic T cell physiology || abnormal IgG level || abnormal B lymphocyte antigen presentation
Mammalian Phenotype (MP)	abnormal response to infection	0.04485	1.112	--	INHERITED FROM: altered susceptibility to infection
Mammalian Phenotype (MP)	abnormal hematopoietic system physiology	0.04638	0.8789	--	INHERITED FROM: abnormal leukocyte physiology || abnormal cytotoxic T cell physiology || abnormal IgG level || abnormal B lymphocyte antigen presentation || abnormal blood cell physiology
Mammalian Phenotype (MP)	abnormal immune system morphology	0.0599	0.7223	--	INHERITED FROM: abnormal mononuclear cell morphology || abnormal leukocyte cell number || absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal immune tolerance	0.06674	1.324	--	INHERITED FROM: autoimmune response || abnormal self tolerance || altered susceptibility to autoimmune disorder
Mammalian Phenotype (MP)	abnormal nervous system physiology	0.1324	0.825	--	INHERITED FROM: enhanced paired-pulse facilitation
Mammalian Phenotype (MP)	abnormal lymphocyte morphology	0.1376	0.9404	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal leukocyte morphology	0.1554	0.8108	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells || abnormal leukocyte cell number || abnormal mononuclear cell morphology
Mammalian Phenotype (MP)	abnormal immune system physiology	0.158	0.6789	--	INHERITED FROM: abnormal interferon-gamma secretion || abnormal IgG level || autoimmune response || abnormal antigen presentation || altered susceptibility to infection || altered susceptibility to autoimmune disorder || abnormal self tolerance || abnormal B lymphocyte antigen presentation || abnormal cytotoxic T cell physiology || abnormal leukocyte physiology
Mammalian Phenotype (MP)	decreased alpha-beta T cell number	0.1736	1.825	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal effector T cell morphology	0.1854	1.399	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal hematopoietic cell number	0.1888	0.8473	--	INHERITED FROM: abnormal leukocyte cell number || absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal humoral immune response	0.1903	1.457	--	INHERITED FROM: abnormal IgG level
Mammalian Phenotype (MP)	decreased lymphocyte cell number	0.2531	1.156	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal hematopoietic cell morphology	0.2548	0.7167	--	INHERITED FROM: abnormal mononuclear cell morphology || absent CD8-positive, alpha-beta T cells || abnormal leukocyte cell number
Mammalian Phenotype (MP)	abnormal B cell physiology	0.2749	1.172	--	INHERITED FROM: abnormal B lymphocyte antigen presentation || abnormal IgG level
Mammalian Phenotype (MP)	abnormal alpha-beta T cell morphology	0.2866	1.373	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal immune system cell morphology	0.2941	0.8038	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells || abnormal leukocyte cell number || abnormal mononuclear cell morphology
Mammalian Phenotype (MP)	decreased leukocyte cell number	0.3865	1.156	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal cytokine secretion	0.4037	1.085	--	INHERITED FROM: abnormal interferon-gamma secretion
Mammalian Phenotype (MP)	abnormal hematopoietic system morphology/development	0.4085	0.6686	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells || abnormal leukocyte cell number || abnormal mononuclear cell morphology
Mammalian Phenotype (MP)	abnormal CD8-positive, alpha-beta T cell number	0.4755	1.758	--	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	hematopoietic system phenotype	0	0.5945	Least Informative	DIRECT
Mammalian Phenotype (MP)	immune system phenotype	0.00000008025	0.5462	Least Informative	DIRECT
Mammalian Phenotype (MP)	nervous system phenotype	0.4384	0.4959	Least Informative	INHERITED FROM: enhanced paired-pulse facilitation
Mammalian Phenotype (MP)	abnormal leukocyte physiology	0.00000003327	0.9219	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	altered susceptibility to infection	0.00004676	1.112	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal lymphocyte cell number	0.02564	1.023	Moderately Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal T cell morphology	0.03708	1.205	Moderately Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal professional antigen presenting cell physiology	0.1786	1.098	Moderately Informative	INHERITED FROM: abnormal IgG level || abnormal B lymphocyte antigen presentation
Mammalian Phenotype (MP)	abnormal synaptic transmission	0.1981	1.156	Moderately Informative	INHERITED FROM: enhanced paired-pulse facilitation
Mammalian Phenotype (MP)	abnormal immune serum protein physiology	0.3192	1.001	Moderately Informative	INHERITED FROM: abnormal IgG level || abnormal interferon-gamma secretion
Mammalian Phenotype (MP)	decreased hematopoietic cell number	0.6649	1.072	Moderately Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal antigen presentation	0.0000008271	1.7	Informative	DIRECT
Mammalian Phenotype (MP)	altered susceptibility to autoimmune disorder	0.0001291	1.649	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal interferon-gamma secretion	0.0005197	1.427	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal CD8-positive, alpha beta T cell morphology	0.03999	1.7	Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	decreased T cell number	0.2763	1.427	Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal immunoglobulin level	0.2815	1.524	Informative	INHERITED FROM: abnormal IgG level
Mammalian Phenotype (MP)	abnormal alpha-beta T cell number	0.327	1.562	Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells
Mammalian Phenotype (MP)	abnormal T cell physiology	0.5417	1.427	Informative	INHERITED FROM: abnormal cytotoxic T cell physiology
Mammalian Phenotype (MP)	abnormal cytotoxic T cell physiology	0.00000146	2.001	Highly Informative	DIRECT
Mammalian Phenotype (MP)	enhanced paired-pulse facilitation	0.00006664	2.001	Highly Informative	DIRECT
Mammalian Phenotype (MP)	decreased CD8-positive, alpha-beta T cell number	0.2627	1.904	Highly Informative	INHERITED FROM: absent CD8-positive, alpha-beta T cells

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Xenopus Anatomy (XA)

Highlighted in gray are those with FDR_all>0.001

	XA term	FDR (all)	IC level	SDXA level	Annotation (direct or inherited)
Xenopus ANatomical entity (XAN)	trunk region	0	0.388	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical structure	0	0	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical group	0	0.1408	--	DIRECT
Xenopus ANatomical entity (XAN)	organism subdivision	0	0.1679	--	DIRECT
Xenopus ANatomical entity (XAN)	compound organ	0	0.2177	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical region	0	0.1803	--	DIRECT
Xenopus ANatomical entity (XAN)	multicellular anatomical structure	0	0.1131	--	DIRECT
Xenopus ANatomical entity (XAN)	immune system	0.0002246	1.786	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical system	1	0.283	--	INHERITED FROM: immune system
Xenopus ANatomical entity (XAN)	whole organism	1	0.0884	--	INHERITED FROM: immune system || anatomical group || multicellular anatomical structure || compound organ || trunk || anatomical region || trunk region || anatomical cluster || organism subdivision
Xenopus ANatomical entity (XAN)	trunk	0	0.3894	Least Informative	DIRECT
Xenopus ANatomical entity (XAN)	anatomical cluster	0	0.7159	Least Informative	DIRECT
Xenopus DEvelopment stage (XDE)	NF stage	0	0.01895	--	DIRECT

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