Disease Clusters | GeDiPNet

4,245 of 6,089 diseases (70%) fall into one of 434 clusters. The remaining 1,844 don't share enough genes with a group of 5+ diseases to form one ‐ see Shared-Gene Disease Pairs for their pairwise links.

Cluster ⇵	# Diseases ⇵	Sample members	Top biological theme ⇵
Cluster 1	88	Acute disseminated encephalomyelitis, Anti-neutrophil antibody associated vasculitis, Antiphospholipid syndrome, Apolipoprotein b hypobetalipoproteinemia, Arthritis and 83 more	Leishmaniasis Pathway · q=7.40e-18
Cluster 2	57	3-methylcrotonyl-coa carboxylase deficiency, Alopecia-neurological defects-endocrinopathy syndrome, Alzheimer disease, Anxiety disorder, Attention deficit hyperactivity disorder and 52 more	nervous system development GO · q=6.21e-21
Cluster 3	49	5-oxoprolinase deficiency, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Atrial flutter, Atrial tachyarrhythmia, infra-hisian cardiac conduction disease and 44 more	regulation of heart rate by cardiac conduction GO · q=6.60e-37
Cluster 4	41	Acantholytic blistering of oral and laryngeal mucosa, amyotrophic lateral sclerosis type 18, Anus neoplasms, Breast neoplasms, Carcinoma and 36 more	Pathways in cancer Pathway · q=5.85e-53
Cluster 5	39	ALG1-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation, Alstrom syndrome and 34 more	N-Glycan biosynthesis Pathway · q=3.83e-40
Cluster 6	36	1q44 microdeletion syndrome, Al kaissi syndrome, Al-raqad syndrome, aspartylglucosaminuria, basilicata-akhtar syndrome and 31 more	nervous system development GO · q=5.05e-39
Cluster 7	35	Alzahrani-kuwahara syndrome, autosomal recessive optic atrophy, OPA7 type, BBS5-related ciliopathy, CERKL-related retinopathy, CNGA1-related retinopathy and 30 more	visual perception GO · q=8.67e-124
Cluster 8	35	ALG6-congenital disorder of glycosylation 1C, Aplasia of the vermis, Arima syndrome, Bardet-biedl syndrome, bardet-biedl syndrome 16 and 30 more	cilium assembly GO · q=5.45e-85
Cluster 9	34	Bone remodeling disease, Ciliary dyskinesia, ciliary dyskinesia, primary, 36, x-linked, ciliary dyskinesia, primary, 42, ciliary dyskinesia, primary, 43 and 29 more	cilium movement GO · q=9.94e-39
Cluster 10	28	autosomal dominant combined immunodeficiency due to ERBIN deficiency, Combined immunodeficiency disease, combined immunodeficiency due to CD3gamma deficiency, combined immunodeficiency due to GINS1 deficiency, combined immunodeficiency due to LRBA deficiency and 23 more	T cell activation GO · q=1.72e-23
Cluster 11	27	Azoospermia, ciliary dyskinesia, primary, 45, Congenital alpha-fetoprotein deficiency, Congenital impairment of spermatozoa motility, Male infertility and 22 more	spermatogenesis GO · q=1.79e-60
Cluster 12	24	anemia, nonspherocytic hemolytic, due to G6PD deficiency, Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema, Autoinflammatory disease, systemic, x-linked, Bloch sulzberger syndrome, Charcot-Marie-Tooth disease type 4B2 and 19 more	Cross-presentation of particulate exogenous antigens (phagosomes) Pathway · q=5.54e-7
Cluster 13	23	Amyotrophic lateral sclerosis, Charcot-marie-tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D and 18 more	Amyotrophic lateral sclerosis Pathway · q=1.90e-9
Cluster 14	23	Ankylosing spondylitis, Asthma, Autoinflammatory disease, systemic, with vasculitis, Autonomic nervous system disease, Benign flecked retina and 18 more	inflammatory response GO · q=5.33e-30
Cluster 15	23	achondrogenesis type II, Avascular necrosis of femoral head, Beukes hip dysplasia, Chondrosarcoma, COL2A1-related spondyloepiphyseal dysplasia and 18 more	cartilage development involved in endochondral bone morphogenesis GO · q=1.03e-4
Cluster 16	23	Acromelic frontonasal dysostosis, Basal cell carcinoma, Chromosome 20q11-q12 deletion syndrome, Congenital posterior urethral valves, Corneal astigmatism and 18 more	Pathways in cancer Pathway · q=3.75e-11
Cluster 17	22	Autoimmune lymphoproliferative disorder, autoimmune lymphoproliferative syndrome type 2A, bamforth-lazarus syndrome, Bladder cancer, ciliary dyskinesia, primary, 39 and 17 more	Pathways in cancer Pathway · q=1.42e-12
Cluster 18	22	Angiocentric glioma, beta-thalassemia HBB/LCRB, Cooleys anemia, Cyanosis, Delta-beta thalassemia and 17 more	carbon dioxide transport GO · q=1.44e-8
Cluster 19	21	amyotrophic lateral sclerosis, susceptibility to, 24, BBS10-related ciliopathy, Craniodiaphyseal dysplasia, cranioectodermal dysplasia 1, Developmental delay with or without epilepsy and 16 more	cilium assembly GO · q=6.40e-33
Cluster 20	21	Camos syndrome, Focal glomerulosclerosis, Focal segmental glomerulosclerosis, focal segmental glomerulosclerosis and neurodevelopmental syndrome, Galloway-mowat syndrome and 16 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=2.52e-10
Cluster 21	20	Androgenetic alopecia, Breast cancer, C3hex olfactory ability, Cancer, Colorectal adenoma and 15 more	positive regulation of transcription by RNA polymerase II GO · q=1.39e-19
Cluster 22	20	Autoinflammatory syndrome, familial, behcet-like, autosomal systemic lupus erythematosus type 16, Crest syndrome, Dermatomyositis, developmental and epileptic encephalopathy, 41 and 15 more	Inflammatory bowel disease Pathway · q=6.77e-25
Cluster 23	20	Angle closure glaucoma, Avascular necrosis of bone, Axial spondylometaphyseal dysplasia, Chromosome 5q deletion syndrome, Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia and 15 more	response to hypoxia GO · q=1.00e-8
Cluster 24	20	Alpha thalassemia, Anemia, Bisphosphoglycerate mutase deficiency, Chloracne, Erythrocytosis and 15 more	erythrocyte development GO · q=1.38e-11
Cluster 25	20	Arthrogryposis with oculomotor limitation and retinal anomalies, Auriculocondylar syndrome, auriculocondylar syndrome 2, Cataract-corneal dystrophy syndrome, Cataract-microcornea-metabolic syndrome and 15 more	camera-type eye development GO · q=2.72e-6
Cluster 26	19	aortic valve disease 3, Bicuspid aortic valve, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Developmental delay and 14 more	Prion disease Pathway · q=2.56e-12
Cluster 27	19	17q23.1q23.2 microdeletion syndrome, Amelia, Arthropathy, Bmp4-related ocular growth disorder, Chromosome 17q23.1-q23.2 duplication syndrome and 14 more	embryonic hindlimb morphogenesis GO · q=6.74e-7
Cluster 28	19	Acromesomelic dysplasia, Arthrogryposis-renal dysfunction-cholestasis syndrome, arthrogryposis, renal dysfunction, and cholestasis 1, arthrogryposis, renal dysfunction, and cholestasis 2, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and 14 more	Defective B3GALTL causes Peters-plus syndrome (PpS) Pathway · q=5.01e-6
Cluster 29	19	Aphasia, Arterial occlusive disease, Asthenozoospermia, Brain edema, Cardiac injury and 14 more	cellular response to lipopolysaccharide GO · q=9.13e-6
Cluster 30	18	Aarskog-scott syndrome, x-linked, Acro-dermo-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, BBS9-related ciliopathy, Bladder exstrophy and 13 more	canonical Wnt signaling pathway GO · q=2.63e-5
Cluster 31	18	autosomal dominant nonsyndromic hearing loss, autosomal recessive nonsyndromic hearing loss 102, autosomal recessive nonsyndromic hearing loss 63, Congenital ear anomaly, Deafness and 13 more	sensory perception of sound GO · q=7.52e-96
Cluster 32	18	Atypical hemolytic uremic syndrome, atypical hemolytic-uremic syndrome, atypical hemolytic-uremic syndrome with B factor anomaly, C3 glomerulonephritis, Central serous retinopathy and 13 more	complement activation GO · q=7.58e-17
Cluster 33	18	Brain small vessel disease, brain small vessel disease 3, Cerebral microangiopathy, Cerebral palsy, Cerebral small vessel disease and 13 more	response to copper ion GO · q=9.76e-4
Cluster 34	17	Atrial fibrillation, band heterotopia of brain, Cardiovascular disease, Congestive heart failure, Coronary artery disease and 12 more	positive regulation of transcription by RNA polymerase II GO · q=9.87e-26
Cluster 35	17	Abetalipoproteinemia, Carotid artery disease, Congenital hyperinsulinism, Diabetic ketoacidosis, Fanconi-bickel syndrome and 12 more	Maturity onset diabetes of the young Pathway · q=6.24e-16
Cluster 36	17	Blood coagulation disorder, Cerebral hemorrhage, Disseminated intravascular coagulation, Fetal erythroblastosis, Hemophilia a and 12 more	blood coagulation GO · q=1.79e-60
Cluster 37	17	Brain tumor-polyposis syndrome, Cenani-lenz syndrome, classic or attenuated familial adenomatous polyposis, cutis laxa, autosomal dominant 1, Dermatitis herpetiformis and 12 more	Pathways in cancer Pathway · q=2.20e-9
Cluster 38	17	Ankylosis, Antley-bixler syndrome, Beare-stevenson cutis gyrata syndrome, bent bone dysplasia syndrome 1, Biliary tract neoplasms and 12 more	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO · q=8.30e-4
Cluster 39	17	BARD1-related cancer predisposition, ciliary dyskinesia, primary, 47, and lissencephaly, Constitutional mismatch repair deficiency, Cystic leukoencephalopathy, Fanconi anemia and 12 more	DNA repair GO · q=1.21e-46
Cluster 40	17	Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Eye abnormalities, frank-ter haar syndrome, Muscle eye brain disease and 12 more	Mannose type O-glycan biosynthesis Pathway · q=3.49e-21
Cluster 41	16	Atrial septal defect, Chromosome 15q deletion syndrome, Congenital heart defects, Congenital heart disease, Congenital heart septal defect and 11 more	heart development GO · q=2.25e-49
Cluster 42	16	Cardiac valvular dysplasia, Conductive hearing loss, Congenital idiopathic intestinal pseudoobstruction, Congenital short bowel syndrome, Cystic fibrosis-related diabetes and 11 more	positive regulation of gene expression GO · q=2.68e-3
Cluster 43	16	Alcoholic hepatitis, ALG11-congenital disorder of glycosylation, Angina pectoris, Autoimmune uveitis, Cachexia and 11 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=2.35e-18
Cluster 44	16	B3GALT6-congenital disorder of glycosylation, Carpal tunnel syndrome, Cerebrocostomandibular syndrome, Congenital cartilage disorder, Connective tissue disease and 11 more	skeletal system development GO · q=3.32e-22
Cluster 45	16	Atypical multiple mole melanoma syndrome, B-cell acute lymphoblastic leukemia, B-lymphoblastic leukemia/lymphoma, Brain stem neoplasms, Carcinogenesis and 11 more	Chronic myeloid leukemia Pathway · q=1.09e-13
Cluster 46	16	Allergic contact dermatitis, Atopic dermatitis, Autoimmune hepatitis, Autoinflammation with episodic fever and immune dysregulation, Behcet disease and 11 more	immune response GO · q=8.10e-59
Cluster 47	16	Autoimmune disease, Autoimmune thyroid disease, Autoinflammation with pulmonary and cutaneous vasculitis, Autoinflammatory-pancytopenia syndrome, Celiac disease and 11 more	immune response GO · q=2.79e-35
Cluster 48	16	Adenomatous polyposis, CEP290-related ciliopathy, Congenital kidney anomaly, Encephalocele, familial adenomatous polyposis 4 and 11 more	Energy dependent regulation of mTOR by LKB1-AMPK Pathway · q=1.17e-5
Cluster 49	16	arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, Blepharoptosis, Cardiofaciocutaneous syndrome, Congenital malformation syndromes associated with short stature, Congenital malrotation of intestine and 11 more	Ras signaling pathway Pathway · q=3.83e-14
Cluster 50	16	Aneurysm, Aortic aneurysm, Boudin-mortier syndrome, Congenital aneurysm of ascending aorta, Congenital contractural arachnodactyly and 11 more	collagen fibril organization GO · q=1.63e-15
Cluster 51	16	Anterior polar cataract, Cataract, Cataract-microcornea syndrome, Congenital cataract, Congenital cataract facial dysmorphism neuropathy syndrome and 11 more	lens development in camera-type eye GO · q=1.91e-26
Cluster 52	16	Anophthalmia, Anophthalmia/microphthalmia-esophageal atresia syndrome, Colobomatous microphthalmia, colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous optic disc macular atrophy chorioretinopathy syndrome and 11 more	camera-type eye development GO · q=1.63e-20
Cluster 53	16	Capillary-lymphatic-venous malformation, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 4C, Clapo syndrome, Cloves syndrome and 11 more	facultative heterochromatin formation GO · q=2.38e-6
Cluster 54	15	Cardiac-urogenital syndrome, Chylothorax, ciliary dyskinesia, primary, 38, ciliary dyskinesia, primary, 40, congenital heart disease with heterotaxy syndrome and 10 more	determination of left/right symmetry GO · q=3.83e-20
Cluster 55	15	Angelman syndrome, Autism, x-linked, Benign paroxysmal torticollis of infancy, Bruxism, Bulbar palsy and 10 more	chemical synaptic transmission GO · q=5.27e-6
Cluster 56	15	asphyxiating thoracic dystrophy 3, Bowed long bones, Buruli ulcer, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Congenital camptodactyly and 10 more	heart development GO · q=6.79e-6
Cluster 57	15	Anovulation, Apolipoprotein a5 deficiency, Arteriosclerosis, congenital disorder of glycosylation, type iit, Corneal injury and 10 more	cholesterol homeostasis GO · q=6.05e-26
Cluster 58	15	amyotrophic lateral sclerosis type 15, Brody myopathy, Cohen syndrome, GPR161-related medulloblastoma predisposition, Growth hormone deficiency and 10 more	pituitary gland development GO · q=4.06e-8
Cluster 59	15	Developmental delay with dysmorphic facies and brain anomalies, Hypomyelinating leukodystrophy, hypomyelinating leukodystrophy 5, hypomyelinating leukodystrophy 9, Leukodystrophy and 10 more	Cytosolic tRNA aminoacylation Pathway · q=4.72e-8
Cluster 60	15	Ataxia with intention tremor and hypotonia, Carotid artery stenosis, Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cervical dysplasia, Coronary restenosis and 10 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=4.01e-6
Cluster 61	15	Arthrogryposis with perthes disease and gaze palsy, autosomal dominant centronuclear myopathy, Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm and 10 more	myelination in peripheral nervous system GO · q=1.36e-4
Cluster 62	14	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Codas syndrome, Combined oxidative phosphorylation deficiency, Cytochrome c oxidase deficiency, Early-onset dystonia with spastic paraplegia and 9 more	Respiratory electron transport Pathway · q=6.61e-71
Cluster 63	14	autoimmune lymphoproliferative syndrome type 1, Brain injuries, Brain ischemia, Cirrhosis, Developmental delay with overweight and facial dysmorphism and 9 more	Lipid and atherosclerosis Pathway · q=5.88e-30
Cluster 64	14	Aortic dissection, Aortic rupture, Arterial tortuosity syndrome, arterial tortuosity-bone fragility syndrome, Atypical femoral fracture and 9 more	elastic fiber assembly GO · q=1.54e-7
Cluster 65	14	Anastomosing haemangioma, Arteriovenous malformations, Capillary malformation, Capillary malformation-arteriovenous malformation, Cerebrofacial arteriovenous metameric syndrome and 9 more	GnRH secretion Pathway · q=2.20e-6
Cluster 66	14	Amnesia, Bradycardia, Catalepsy, Catatonia, Cyp2d6 deficiency and 9 more	Neuroactive ligand-receptor interaction Pathway · q=1.41e-41
Cluster 67	14	bleeding disorder, platelet-type, 22, Carotid artery thrombosis, Glanzmann thrombasthenia, inherited blood coagulation disorder, Macrothrombocytopenia and 9 more	Platelet activation Pathway · q=1.32e-16
Cluster 68	14	Bart-pumphrey syndrome, Clouston syndrome, Deafness, digenic, Deafness, x-linked, Hearing loss with stapes fixation and 9 more	gap junction-mediated intercellular transport GO · q=5.33e-4
Cluster 69	14	CACNA2D4-related retinopathy, Central areolar choroidal dystrophy, Choroidal dystrophy, Choroidal sclerosis, Choroideremia and 9 more	visual perception GO · q=3.86e-12
Cluster 70	13	Bronchiectasis, congenital disorder of glycosylation, type 2v, familial juvenile hyperuricemic nephropathy type 2, Juvenile hyperuricemic nephropathy, Liddle syndrome and 8 more	multicellular organismal-level water homeostasis GO · q=6.80e-11
Cluster 71	13	17q11 microdeletion syndrome, 17q11.2 microduplication syndrome, Cafe-au-lait spots, Cervical lymphadenopathy, Embryonal nuclear cataract and 8 more	regulation of cell population proliferation GO · q=4.95e-6
Cluster 72	13	Biliary tract cancer, Cardiofacio-neurodevelopmental syndrome, Cervical cancer, Endometrial cancer, Endometrial neoplasms and 8 more	cell division GO · q=8.97e-17
Cluster 73	13	Acetyl-coa carboxylase deficiency, Atherosclerosis, Cerebrovascular disorder, Erectile dysfunction, Heart disease and 8 more	positive regulation of gene expression GO · q=2.66e-21
Cluster 74	13	Anhydramnios, autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, Biliary-renal-neuro-skeletal syndrome, Caroli disease and 8 more	kidney development GO · q=3.49e-10
Cluster 75	13	Anorexia nervosa, cardiomyopathy, dilated, 2f, Charcot-Marie-Tooth disease, axonal, type 2FF, Congenital thrombotic disease, Early-onset distal myopathy and 8 more	chemical synaptic transmission GO · q=6.15e-6
Cluster 76	13	Absence of fingerprints-congenital milia syndrome, Anhidrotic ectodermal dysplasia, Christ-siemens-touraine syndrome, Craniofrontonasal dysplasia, Ectodermal dysplasia and 8 more	odontogenesis of dentin-containing tooth GO · q=9.75e-12
Cluster 77	13	Aplastic anemia, Dyskeratosis congenita, dyskeratosis congenita and related telomere biology disorder, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3 and 8 more	Telomere Extension By Telomerase Pathway · q=1.35e-17
Cluster 78	13	Carcinoid syndrome, Carney complex, Carney-stratakis syndrome, congenital dyserythropoietic anemia type 2, Cowden disease and 8 more	mitochondrial electron transport, succinate to ubiquinone GO · q=1.59e-11
Cluster 79	13	Berardinelli-seip congenital lipodystrophy, Carotid intima-media thickness, Central nervous system malformation, Congenital generalized lipodystrophy, congenital generalized lipodystrophy type 3 and 8 more	Apoptosis Pathway · q=5.90e-5
Cluster 80	13	Aminoaciduria, Autoinflammatory disease, familial, behcet-like 3, combined immunodeficiency due to RELA haploinsufficiency, Cystitis, Endocrine system disease and 8 more	Pathways in cancer Pathway · q=2.71e-12
Cluster 81	13	Bowen’s disease, Cecal neoplasms, Craniopharyngioma, CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, Hepatoblastoma and 8 more	Colorectal cancer Pathway · q=6.90e-10
Cluster 82	13	Aniridia, aniridia 3, Anterior segment dysgenesis, anterior segment dysgenesis 4, anterior segment dysgenesis 8 and 8 more	camera-type eye development GO · q=1.97e-10
Cluster 83	13	arrhythmogenic right ventricular dysplasia 5, dilated cardiomyopathy 1A, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Emery dreifuss muscular dystrophy, Emery-dreifuss muscular dystrophy and 8 more	Cytoskeleton in muscle cells Pathway · q=5.05e-6
Cluster 84	13	Budd-chiari syndrome, Cerebral venous sinus thrombosis, Congenital factor v deficiency, Diabetes macrovascular complications, East texas bleeding disorder and 8 more	blood coagulation GO · q=3.21e-4
Cluster 85	13	Cerebellar atrophy with seizures and variable developmental delay, Childhood-onset glut1 deficiency syndrome 2, complex neurodevelopmental disorder with motor features, episodic ataxia type 1, Episodic kinesigenic dyskinesia and 8 more	monoatomic ion transmembrane transport GO · q=9.99e-4
Cluster 86	12	11p partial monosomy syndrome, Ambiguous genitalia, Autoimmune nervous system disorder, Congenital aniridia, Denys drash syndrome and 7 more	anatomical structure morphogenesis GO · q=6.83e-5
Cluster 87	12	Auditory perceptual disorder, Congenital hereditary endothelial dystrophy, Congenital stromal corneal dystrophy, Corneal dystrophy, Corneal endothelial dystrophy and 7 more	MET activates PTK2 signaling Pathway · q=7.73e-6
Cluster 88	12	Adrenocortical carcinoma, B-cell chronic lymphocytic leukemia, Central nervous system neoplasms, Choroid plexus carcinoma, Choroid plexus papilloma and 7 more	Bladder cancer Pathway · q=1.04e-7
Cluster 89	12	Dentici novelli neurodevelopmental syndrome, Hodgkin lymphoma, hypotaurinemic retinal degeneration and cardiomyopathy, immunodeficiency, common variable, 14, Leukemia and 7 more	Pathways in cancer Pathway · q=3.49e-23
Cluster 90	12	Apert syndrome, Cataract-intellectual disability-hypogonadism syndrome, Congenital malformation syndromes predominantly affecting facial appearance, Cryptophthalmos syndrome, Cyclocephaly and 7 more	branching involved in salivary gland morphogenesis GO · q=2.84e-4
Cluster 91	12	Alport syndrome, Alport syndrome, x-linked, Diaphragm disease, Diffuse mesangial sclerosis, Digenic alport syndrome and 7 more	Laminin interactions Pathway · q=2.01e-7
Cluster 92	12	3m syndrome, autosomal recessive cerebellar ataxia, Cayman type cerebellar ataxia, Cerebellar ataxia, Spastic ataxia and 7 more	Spinocerebellar ataxia Pathway · q=9.40e-13
Cluster 93	12	A4GALT-congenital disorder of glycosylation, Caffey disease, Cholangitis, COL1A1-related Ehlers-Danlos syndrome, Combined osteogenesis imperfecta and ehlers-danlos syndrome and 7 more	collagen fibril organization GO · q=2.17e-5
Cluster 94	12	Accessory skin tag, autosomal recessive cutis laxa type 2B, autosomal recessive cutis laxa type 2C, autosomal recessive cutis laxa type 2D, Benign familial pemphigus and 7 more	elastic fiber assembly GO · q=8.42e-10
Cluster 95	12	Branchial arch abnormalities syndrome, Branchial cleft anomalies, Burn-mckeown syndrome, Choanal atresia syndrome, choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome and 7 more	heterochromatin formation GO · q=1.31e-3
Cluster 96	12	Autoinflammatory syndrome, Congenital lactic acidosis, Congenital microvillous atrophy, familial hemophagocytic lymphohistiocytosis 2, familial hemophagocytic lymphohistiocytosis 3 and 7 more	pattern recognition receptor signaling pathway GO · q=3.09e-7
Cluster 97	12	ALG9-associated autosomal dominant polycystic kidney disease, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Hyperuricemic nephropathy, Polycystic kidney disease, polycystic kidney disease 3 with or without polycystic liver disease and 7 more	kidney development GO · q=2.83e-15
Cluster 98	12	Amegakaryocytic thrombocytopenia, Clonal hematopoiesis, Congenital amegakaryocytic thrombocytopenia, congenital amegakaryocytic thrombocytopenia 1, Essential thrombocythemia and 7 more	Pathways in cancer Pathway · q=2.49e-8
Cluster 99	12	Anaplasia, Bladder disease, Choreoathetosis, Chromosome 17q23.1-q23.2 deletion syndrome, Cryohydrocytosis and 7 more	Central carbon metabolism in cancer Pathway · q=6.59e-7
Cluster 100	12	Bombay phenotype, Deficiency anemia, Imerslund-grasbeck syndrome, Megaloblastic anemia, methylmalonic acidemia due to transcobalamin receptor defect and 7 more	Cobalamin (Cbl, vitamin B12) transport and metabolism Pathway · q=2.81e-13
Cluster 101	12	Anterior cruciate ligament injury, Arginase deficiency, Congenital hereditary facial paralysis with variable hearing loss syndrome, Constipation, Eye pain and 7 more	regulation of insulin secretion GO · q=4.37e-5
Cluster 102	12	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Congenital hypothyroidism, Congenital hypothyroidism due to absence of thyroid gland, Congenital hypothyroidism without goiter, Congenital thyroid atrophy and 7 more	Thyroid hormone synthesis Pathway · q=2.53e-12
Cluster 103	12	ciliary dyskinesia, primary, 41, Eosinophilia, fontaine progeroid syndrome, immunodeficiency 104, immunodeficiency, common variable, 12 and 7 more	Inflammatory bowel disease Pathway · q=4.16e-14
Cluster 104	12	Asymmetric septal hypertrophy, Biventricular noncompaction cardiomyopathy, Camptocormia, Coronary stenosis, dilated cardiomyopathy 1S and 7 more	cardiac muscle contraction GO · q=1.46e-8
Cluster 105	12	Ataxia with polyneuropathy, Deafness with congenital onychodystrophy, Deafness-onychodystrophy syndrome, Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, Digitrenocerebral syndrome and 7 more	peroxisome fission GO · q=9.23e-4
Cluster 106	12	Atrioventricular septal defect, Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome, Chromosome 8p23.1 monosomy, Congenital pulmonary valve atresia, GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes and 7 more	atrioventricular canal development GO · q=1.24e-5
Cluster 107	12	Bilateral microphthalmos, Erythrokeratodermia variabilis, erythrokeratodermia variabilis et progressiva 4, Greither disease, Hallermanns syndrome and 7 more	intracellular iron ion homeostasis GO · q=2.94e-4
Cluster 108	11	11p11.2 deletion syndrome, combined immunodeficiency due to ZAP70 deficiency, craniosynostosis 2, Exostoses, exostoses, multiple, type 2 and 6 more	fluid transport GO · q=7.38e-4
Cluster 109	11	15q13.3 microdeletion syndrome, Auditory system disease, autosomal dominant cerebellar ataxia, Caudal regression syndrome, Congenital exomphalos and 6 more	orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO · q=2.31e-4
Cluster 110	11	22q11 deletion syndrome, ciliary dyskinesia, primary, 46, Congenital heart malformation, Gastrointestinal stromal tumor, Holoprosencephaly and 6 more	smoothened signaling pathway GO · q=5.41e-40
Cluster 111	11	Biotinidase deficiency, Brachydactyly, Brachydactyly-syndactyly syndrome, Brachymesophalangy, Cryptorchidism and 6 more	chondrocyte differentiation GO · q=8.35e-8
Cluster 112	11	Adenosine kinase deficiency, Amino acid metabolism disorder, Cystathioninuria, Glycine n-methyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency and 6 more	Biosynthesis of amino acids Pathway · q=3.84e-8
Cluster 113	11	Amish brittle hair brain syndrome, Trichorrhexis nodosa syndrome, Trichothiodystrophy, Xeroderma pigmentosum, xeroderma pigmentosum group B and 6 more	nucleotide-excision repair GO · q=2.50e-16
Cluster 114	11	Alexander disease, Combined psap deficiency, Combined saposin deficiency, Gaucher disease, Gaucher disease due to saposin C deficiency and 6 more	adult locomotory behavior GO · q=1.12e-6
Cluster 115	11	ACTB-associated syndromic thrombocytopenia, aminoacylase 1 deficiency, Aminoacylase deficiency, Baraitser-winter cerebrofrontofacial syndrome, baraitser-winter syndrome 2 and 6 more	EPHB-mediated forward signaling Pathway · q=7.87e-5
Cluster 116	11	Aldosterone-producing adenoma, Brain compression, Breast cyst, Disorder of sex development, Hyperplasia and 6 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=2.40e-7
Cluster 117	11	Alpha thalassemia x-linked intellectual disability, Atr-x syndrome, ATR-X-related syndrome, Intellectual developmental disorder hypotonic x-linked, non-syndromic X-linked intellectual disability and 6 more	response to inositol GO · q=6.02e-4
Cluster 118	11	Bradyopsia, Chiari-frommel syndrome, Delirium, Disruptive impulse-control and conduct disorder, Dyskinesia, drug-induced and 6 more	Hormone signaling Pathway · q=1.63e-14
Cluster 119	11	amyotrophic lateral sclerosis type 6, ciliary dyskinesia, primary, 54, Frontotemporal dementia, frontotemporal dementia and/or amyotrophic lateral sclerosis, frontotemporal dementia and/or amyotrophic lateral sclerosis 1 and 6 more	Amyotrophic lateral sclerosis Pathway · q=3.12e-11
Cluster 120	11	anemia, congenital dyserythropoietic, type 1a, Antisocial personality disorder, Brunner syndrome, Colchicine resistance, Congenital dyserythropoietic anemia and 6 more	behavioral response to ethanol GO · q=6.34e-5
Cluster 121	11	Ataxia-hypogonadism-choroidal dystrophy syndrome, Beta-sarcoglycanopathy, Boucher-neuhauser syndrome, Cerebellar ataxia and hypogonadotropic hypogonadism, Cerebellar ataxia-hypogonadism and 6 more	N-glycan processing to lysosome GO · q=1.80e-5
Cluster 122	11	Birk-barel syndrome, cataract 50 with or without glaucoma, Cataract-glaucoma syndrome, Chopra-amiel-gordon syndrome, Congenital cataract anterior segment dysgenesis syndrome and 6 more	neuron fate specification GO · q=1.53e-2
Cluster 123	11	Bone dysplasia with increased bone density, Bone mineral density quantitative trait locus, Camurati-engelmann syndrome, LRP5-related exudative vitreoretinopathy, Osteopetrosis and infantile neuroaxonal dystrophy and 6 more	Negative regulation of TCF-dependent signaling by WNT ligand antagonists Pathway · q=4.42e-4
Cluster 124	10	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, ciliopathy-IFT74, Congenital brain malformation, Congenital hypoplasia of part of brain, Hydranencephaly and 5 more	neuron migration GO · q=1.01e-12
Cluster 125	10	Avoidant restrictive food intake disorder, Bile duct calculus, Cavitary optic disc anomalies, Cavitary optic disk anomaly, Delayed sleep phase syndrome and 5 more	axonogenesis involved in innervation GO · q=4.67e-5
Cluster 126	10	Cardiovascular abnormalities, Deafness-lymphedema-leukemia syndrome, Gata2 deficiency, GATA2 deficiency with susceptibility to MDS/AML, nephronophthisis 16 and 5 more	heart development GO · q=1.76e-7
Cluster 127	10	Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Desbuquois syndrome, ehlers-danlos syndrome, spondylodysplastic type, 1, Larsen syndrome and 5 more	skeletal system development GO · q=4.00e-57
Cluster 128	10	Alys amyloidosis, Amyloidosis, amyloidosis, hereditary systemic 6, Bare lymphocyte syndrome, Beta2-microglobulinic amyloidosis and 5 more	Antigen processing and presentation Pathway · q=8.17e-10
Cluster 129	10	Hyperekplexia epilepsy syndrome, Intellectual developmental disorder, x-linked, intellectual disability, X-linked 106, syndromic X-linked intellectual disability Nascimento type, syndromic X-linked intellectual disability Raymond type and 5 more	modulation of chemical synaptic transmission GO · q=3.35e-4
Cluster 130	10	Achondroplasia, camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly, tall stature, and hearing loss syndrome, Catshl syndrome, Crouzon syndrome with acanthosis nigricans and 5 more	negative regulation of developmental growth GO · q=1.89e-3
Cluster 131	10	autosomal recessive limb-girdle muscular dystrophy, Axonal neuropathy with neuromyotonia, Bjornstad syndrome, Developmental delay with hypotonia, myopathy, and brain abnormalities, Limb girdle muscular dystrophy and 5 more	Cytoskeleton in muscle cells Pathway · q=2.06e-23
Cluster 132	10	Anemia, x-linked, Congenital erythropoietic porphyria, Cutaneous porphyria, Dyserythropoietic anemia with abnormal platelets and neutropenia, Dyserythropoietic anemia with thrombocytopenia and 5 more	heme B biosynthetic process GO · q=7.27e-23
Cluster 133	10	Bronchopulmonary dysplasia, Chronic obstructive pulmonary disease, Cystic fibrosis, Emphysema, Genetic generalized epilepsy and 5 more	inflammatory response GO · q=1.33e-23
Cluster 134	10	Asymmetric crying face association, Bor syndrome, Branchiooculofacial syndrome, Branchiootic syndrome, Branchiootorenal syndrome and 5 more	positive regulation of secondary heart field cardioblast proliferation GO · q=1.79e-4
Cluster 135	10	Benign recurrent intrahepatic cholestasis, Cholelithiasis, Hyperbiliverdinemia, hyperphenylalaninemia due to DNAJC12 deficiency, Intrahepatic cholestasis and 5 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=1.35e-18
Cluster 136	10	Catifa syndrome, Cleft lip, Cleft lip and palate, Cleft palate, Complete unilateral cleft lip and 5 more	stem cell proliferation GO · q=1.73e-14
Cluster 137	10	Cerebellar-facial-dental syndrome, Congenital microcephaly, microcephalic osteodysplastic primordial dwarfism type II, Microcephaly, microcephaly with or without short stature and 5 more	cell division GO · q=2.67e-15
Cluster 138	10	Benign prostatic hyperplasia, Cerebroretinal microangiopathy with calcifications and cysts, cerebroretinal microangiopathy with calcifications and cysts 1, cerebroretinal microangiopathy with calcifications and cysts 2, Cervical polyp and 5 more	Telomere C-strand synthesis initiation Pathway · q=2.34e-4
Cluster 139	10	Bnar syndrome, Craniofaciosynostosis, Encephalocraniocutaneous lipomatosis, Eosinophilic leukemia, Hartsfield-Bixler-Demyer syndrome and 5 more	Central carbon metabolism in cancer Pathway · q=8.66e-6
Cluster 140	10	Atrial standstill, Cardiac rhythm disease, dilated cardiomyopathy 1E, Ectopic rhythm, Hypercapnia and 5 more	regulation of heart rate by cardiac conduction GO · q=4.13e-8
Cluster 141	10	Central nervous system demyelinating disease, Deafness enamel hypoplasia nail defects, Deafness-enamel hypoplasia-nail defects syndrome, dilated cardiomyopathy 2B, Heimler syndrome and 5 more	peroxisome organization GO · q=1.83e-32
Cluster 142	10	Congenital leukocyte adherence deficiency, Congenital sensory neuropathy, Laryngo-onycho-cutaneous syndrome, Leukocyte adhesion deficiency, leukocyte adhesion deficiency 3 and 5 more	nerve growth factor signaling pathway GO · q=3.23e-5
Cluster 143	9	12q14 microdeletion syndrome, Buschke-ollendorff syndrome, Cerebellar vermis atrophy, Cerebral arteriovenous malformations, Dermatofibrosis lenticularis disseminata and 4 more	positive regulation of peptidyl-serine phosphorylation GO · q=3.01e-6
Cluster 144	9	15q11.2 microdeletion syndrome, Complex cortical dysplasia with other brain malformations, complex cortical dysplasia with other brain malformations 2, Congenital fibrosis of extraocular muscles, Cortical development malformation and 4 more	microtubule cytoskeleton organization GO · q=1.37e-13
Cluster 145	9	17q12 microdeletion syndrome, Bilateral multicystic dysplastic kidney, Giant cell tumor of tendon sheath, Mayer-rokitansky-kuster-hauser syndrome, Multicystic dysplastic kidney and 4 more	pronephros development GO · q=7.13e-9
Cluster 146	9	1p36 deletion syndrome, Dyssegmental dysplasia, intellectual disability, autosomal recessive 61, obsolete Stüve-Wiedemann syndrome, radio-tartaglia syndrome and 4 more	leukemia inhibitory factor signaling pathway GO · q=3.70e-4
Cluster 147	9	Mucopolysaccharidosis, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 3B, mucopolysaccharidosis type 3C, mucopolysaccharidosis type 3D and 4 more	Glycosaminoglycan degradation Pathway · q=6.52e-24
Cluster 148	9	Beta thalassemia, Digenic hemochromatosis, Hemochromatosis, hemochromatosis type 2A, hemochromatosis type 2B and 4 more	intracellular iron ion homeostasis GO · q=8.47e-24
Cluster 149	9	46,xy gonadal dysgenesis, 46,xy partial gonadal dysgenesis, 46,xy sex reversal, Gonadal dysgenesis, Ovarian dysgenesis and 4 more	positive regulation of male gonad development GO · q=2.13e-15
Cluster 150	9	ABCA4-related retinopathy, Atrophic retina, Bietti crystalline corneoretinal dystrophy, Cleft palate proliferative retinopathy developmental delay, Diastolic heart failure and 4 more	Norrin signaling pathway GO · q=1.37e-4
Cluster 151	9	Abeta amyloidosis, Acne inversa, Amyloid angiopathy, Amyloid neuropathy, cerebral amyloid angiopathy, app-related and 4 more	Notch receptor processing GO · q=3.30e-7
Cluster 152	9	Breast fibrocystic disease, Congenital hernia of foramen of bochdalek, Eyelid disease, Inflammatory demyelinating polyneuropathy, Neuropathy and 4 more	ureteric bud development GO · q=1.25e-4
Cluster 153	9	Anorexia, Congestive ophthalmopathy, Graft-versus-host disease, Granulomatosis with polyangiitis, Graves ophthalmopathy and 4 more	immune response GO · q=3.35e-23
Cluster 154	9	Danon disease, Dimauro disease, Glycogen storage disease, glycogen storage disease due to muscle and heart glycogen synthase deficiency, glycogen storage disease III and 4 more	glycogen metabolic process GO · q=2.91e-23
Cluster 155	9	Advanced sleep phase syndrome, Anencephaly, Aprosencephaly, Homocystinuria with megaloblastic anemia, Hyperhomocysteinemia and 4 more	homocysteine metabolic process GO · q=1.25e-7
Cluster 156	9	Afibrinogenemia, Congenital afibrinogenemia, Congenital fibrinogen deficiency, Congenital hypofibrinogenemia, Cor pulmonale and 4 more	hemostasis GO · q=1.63e-20
Cluster 157	9	Arthrogryposis with ectodermal dysplasia, Auditory neuropathy, Deafness dystonia syndrome, DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, hearing loss, autosomal recessive 116 and 4 more	sensory perception of sound GO · q=7.49e-9
Cluster 158	9	Aica-ribosiduria, AIPL1-related retinopathy, Blindness, Cerebelloparenchymal disorder, Lactic acidosis and 4 more	visual perception GO · q=2.41e-7
Cluster 159	9	Cadasil, Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency, Retinal vasculopathy with cerebral leukodystrophy and 4 more	regulation of metabolic process GO · q=6.84e-4
Cluster 160	9	Congenital stationary night blindness, GPR179-related retinopathy, GRM6-related retinopathy, inherited retinal dystrophy, Night blindness, congenital stationary and 4 more	visual perception GO · q=7.80e-32
Cluster 161	9	Congenital digestive system anomaly, Congenital hypoplasia of kidney, Medullary carcinoma, Medullary thyroid cancer, multiple endocrine neoplasia type 2A and 4 more	branching involved in ureteric bud morphogenesis GO · q=2.72e-6
Cluster 162	9	Alpha-actinopathy, Congenital nemaline myopathy, Nemaline myopathy, nemaline myopathy 10, nemaline myopathy 6 and 4 more	Cytoskeleton in muscle cells Pathway · q=1.09e-12
Cluster 163	9	Bronchiolitis, Central nervous system disease, Choroidal neovascularization, Diabetes microvascular complications, Diffuse panbronchiolitis and 4 more	vasodilation GO · q=6.14e-6
Cluster 164	9	Anonychia, Bent bone dysplasia, Campomelic dysplasia, Camptomelic dysplasia, Cooks syndrome and 4 more	morphogenesis of an epithelium GO · q=1.12e-6
Cluster 165	9	ARHGAP29-related non-syndromic orofacial cleft, Bilateral cleft lip, Blepharocheilodontic syndrome, blepharocheilodontic syndrome 2, CDH1-related diffuse gastric and lobular breast cancer syndrome and 4 more	cell-cell adhesion mediated by cadherin GO · q=5.54e-6
Cluster 166	9	Asplenia, Congenital asplenia, Congenital septal defect of heart, Congenital-onset steinert myotonic dystrophy, Deletion 5q35 syndrome and 4 more	endocardial cushion development GO · q=9.46e-6
Cluster 167	9	Atrophy, Autoinflammation, immune dysregulation, and eosinophilia, Breast implant-associated anaplastic large cell lymphoma, Copper overload cirrhosis, hyper-IgE recurrent infection syndrome 1, autosomal dominant and 4 more	Pancreatic cancer Pathway · q=7.64e-10
Cluster 168	9	Autoimmune neurological syndrome, Axonal hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy and 4 more	late endosome to vacuole transport via multivesicular body sorting pathway GO · q=9.45e-3
Cluster 169	9	Basal cell nevus syndrome, Bifid nose, Cleft face, Culler-jones syndrome, Desanto-shinawi syndrome and 4 more	spinal cord dorsal/ventral patterning GO · q=3.57e-6
Cluster 170	9	familial acute necrotizing encephalopathy, hearing impairment and infertile male syndrome, Hyperkalemic periodic paralysis, Male reproductive organ cancer, Myotonia and 4 more	regulation of skeletal muscle contraction by action potential GO · q=1.72e-2
Cluster 171	9	Chronic pain, Congenital insensitivity to pain, Congenital pain insensitivity, Episodic pain syndrome, Erythromelalgia and 4 more	sensory perception of pain GO · q=2.71e-9
Cluster 172	9	Cervical dystonia, complex movement disorder with or without neurodevelopmental features, Dystonia, Dystonia musculorum deformans, Early-onset generalized limb-onset dystonia and 4 more	neuromuscular process controlling posture GO · q=3.21e-4
Cluster 173	9	Hereditary sensory and autonomic neuropathy, hereditary sensory and autonomic neuropathy type 4, Hereditary sensory and autonomic neuropathy with spastic paraplegia, neuropathy, hereditary sensory and autonomic, type 1A, neuropathy, hereditary sensory and autonomic, type 1C and 4 more	sensory perception of pain GO · q=5.79e-7
Cluster 174	9	Childhood ataxia with cns hypomyelination, Congenital or early infantile cach syndrome, Cree leukoencephalopathy, leukoencephalopathy with vanishing white matter 1, leukoencephalopathy with vanishing white matter 2 and 4 more	Recycling of eIF2:GDP Pathway · q=2.29e-13
Cluster 175	9	Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum, Dwarfism, Ear, patella, short stature syndrome, Meier-gorlin syndrome, meier-gorlin syndrome 2 and 4 more	Activation of the pre-replicative complex Pathway · q=3.37e-18
Cluster 176	9	Combined cellular and humoral immune defects with granulomas, Combined immunodeficiency with granulomatosis, Combined immunodeficiency with skin granulomas, free sialic acid storage disease, Omenn syndrome and 4 more	T cell differentiation in thymus GO · q=3.92e-11
Cluster 177	9	Corticosterone methyl oxidase type i, Corticosterone methyloxidase deficiency, Corticosterone monooxygenase deficiency, familial hyperreninemic hypoaldosteronism type 2, Familial hypoaldosteronism and 4 more	aldosterone biosynthetic process GO · q=2.73e-6
Cluster 178	9	Hermansky-pudlak syndrome, hermansky-pudlak syndrome 1, hermansky-pudlak syndrome 11, hermansky-pudlak syndrome 2, hermansky-pudlak syndrome 4 and 4 more	platelet dense granule organization GO · q=4.94e-22
Cluster 179	8	Anti-nmda receptor encephalitis, Aortic arch syndrome, Birdshot chorioretinopathy, Carbamazepine hypersensitivity, Paraparesis and 3 more	antigen processing and presentation of peptide antigen via MHC class I GO · q=5.96e-9
Cluster 180	8	3-hydroxyisobutyric aciduria, Bladder calculus, Dalmatian hypouricemia, Hyperuricemia, Nephrolithiasis and 3 more	urate metabolic process GO · q=3.94e-6
Cluster 181	8	Bulimia, Dysphonia, fanconi anemia complementation group i, Intermittent explosive disorder, Mitochondrial dna depletion syndrome and 3 more	mitochondrial DNA replication GO · q=1.57e-8
Cluster 182	8	Diabetes mellitus, Diabetic eye disease, Diabetic neuropathy, Diabetic retinopathy, genitourinary and/or brain malformation syndrome and 3 more	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction GO · q=1.79e-11
Cluster 183	8	46 XY differences of sex development, 46, xy disorder of sex development, 46,xx ovotesticular disorder of sex development, 46,xx sex reversal, MCM9-related gametogenic failure and 3 more	positive regulation of male gonad development GO · q=2.60e-9
Cluster 184	8	Agammaglobulinemia, agammaglobulinemia 10, autosomal dominant, agammaglobulinemia 2, autosomal recessive, agammaglobulinemia 3, autosomal recessive, agammaglobulinemia 4, autosomal recessive and 3 more	B cell differentiation GO · q=1.20e-8
Cluster 185	8	Amyloid polyneuropathy, Dystransthyretinemic euthyroidal hyperthyroxinemia, Hyperthyroxinemia, obsolete hereditary ATTR amyloidosis, Senile systemic amyloidosis and 3 more	HDL remodeling Pathway · q=2.26e-4
Cluster 186	8	Central precocious puberty, Craniofacial deafness hand syndrome, Kleins syndrome, Temple syndrome, Waardenburg syndrome and 3 more	melanocyte differentiation GO · q=2.05e-6
Cluster 187	8	Annular epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma, Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic hyperkeratosis, Epidermolytic ichthyosis and 3 more	response to oxidative stress GO · q=4.93e-8
Cluster 188	8	Aceruloplasminemia, Apoceruloplasmin deficiency, Ferroxidase deficiency, hemochromatosis type 4, Hemosiderosis and 3 more	intracellular iron ion homeostasis GO · q=3.81e-11
Cluster 189	8	Acrocapitofemoral dysplasia, Cernunnos-XLF deficiency, Exudative retinopathy, Exudative vitreoretinopathy, FZD4-related exudative vitreoretinopathy and 3 more	embryonic digit morphogenesis GO · q=9.29e-12
Cluster 190	8	Achondrogenesis, Atelosteogenesis, De la chapelle dysplasia, Diastrophic dysplasia, Diastrophic dysplasia, broad bone-platyspondylic variant and 3 more	chondrocyte differentiation GO · q=2.13e-3
Cluster 191	8	Acrokeratosis verruciformis, adult neuronal ceroid lipofuscinosis, Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome, Distal anoctaminopathy, gnathodiaphyseal dysplasia and 3 more	lysosome organization GO · q=4.54e-9
Cluster 192	8	Acrocallosal syndrome, Cronkhite-canada syndrome, greig cephalopolysyndactyly syndrome, Hydrolethalus syndrome, Male infertility testicular dysgenesis and 3 more	smoothened signaling pathway involved in ventral spinal cord interneuron specification GO · q=5.59e-5
Cluster 193	8	Amenorrhea, amyotrophic lateral sclerosis type 9, Bosch-boonstra-schaaf optic atrophy syndrome, Cataract-growth hormone deficiency-skeletal dysplasia syndrome, Congenital adrenal hyperplasia and 3 more	Cortisol synthesis and secretion Pathway · q=6.57e-8
Cluster 194	8	Anterior compartment syndrome, Diabetic cardiomyopathy, heme oxygenase 1 deficiency, Heme oxygenase deficiency, Hemolysis and 3 more	vasodilation GO · q=8.58e-8
Cluster 195	8	Chromosome 16p13.3 deletion syndrome, Congenital cleft hand, Congenital malformation syndromes predominantly involving limbs, fanconi anemia complementation group l, Rubinstein-taybi syndrome and 3 more	positive regulation of transcription by RNA polymerase II GO · q=2.68e-8
Cluster 196	8	Alternating hemiplegia of childhood, Anhedonia, ATP1A3-associated neurological disorder, Capos syndrome, Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss and 3 more	response to cocaine GO · q=5.50e-7
Cluster 197	8	Chromosome 2q32-q33 deletion syndrome, Clinodactyly, coffin-lowry syndrome, Glass syndrome, Micrognathism and 3 more	hindlimb morphogenesis GO · q=3.20e-3
Cluster 198	8	Alpha-mannosidosis, Cobalamin c disease, Intracellular cobalamin metabolism disorder, Methylmalonic acidemia, methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency and 3 more	Cobalamin transport and metabolism Pathway · q=1.27e-31
Cluster 199	8	ALS2-related motor neuron disease, Beta-mannosidosis, glutaryl-CoA dehydrogenase deficiency, Hypertyrosinemia, Tyrosinemia and 3 more	Tyrosine catabolism Pathway · q=2.90e-7
Cluster 200	8	Anaplastic astrocytoma, Anaplastic oligoastrocytoma, Anaplastic oligodendroglioma, Chordoma, Craniofaciocardiohepatic syndrome and 3 more	glyoxylate cycle GO · q=1.80e-5
Cluster 201	8	Binge eating disorder, Congenital stenosis of aortic valve, familial hypobetalipoproteinemia 1, familial hypobetalipoproteinemia 2, hypercholesterolemia, autosomal dominant, 3 and 3 more	cholesterol metabolic process GO · q=8.11e-5
Cluster 202	8	Argininosuccinic aciduria, carbamoyl phosphate synthetase I deficiency disease, Congenital hyperammonemia, Hyperammonemia, hyperammonemia due to N-acetylglutamate synthase deficiency and 3 more	urea cycle GO · q=1.55e-17
Cluster 203	8	Atrial and intestinal dysrhythmia, Chronobiology disorder, Hyperoxia, Patent ductus venosus, Pruritus and 3 more	Neuroactive ligand-receptor interaction Pathway · q=1.97e-6
Cluster 204	8	Androgen insensitivity syndrome, b-cell immunodeficiency, distal limb anomalies, and urogenital malformations, Bulbo-spinal atrophy, x-linked, Kennedy disease, Male breast neoplasms and 3 more	Pathways in cancer Pathway · q=4.79e-6
Cluster 205	8	Anodontia, craniofacial dysplasia - osteopenia syndrome, Early-onset epilepsy-intellectual disability-brain anomalies syndrome, Severe neonatal spondylometaphyseal dysplasia, tooth agenesis, selective, 1 and 3 more	bone morphogenesis GO · q=3.61e-3
Cluster 206	8	arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Carvajal syndrome, Erythrokeratodermia-cardiomyopathy syndrome, Keratosis palmoplantaris striata, Lethal acantholytic epidermolysis bullosa and 3 more	regulation of ventricular cardiac muscle cell action potential GO · q=1.49e-6
Cluster 207	8	arterial calcification, generalized, of infancy, 1, Cole disease, Coronary medial sclerosis of infancy, Crystal arthropathy, Dubin-johnson syndrome and 3 more	inorganic diphosphate transport GO · q=8.05e-5
Cluster 208	8	Autoinflammation, panniculitis, and dermatosis syndrome, autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, Calcium metabolism disorders, Calcium pyrophosphate deposition, Chondrocalcinosis and 3 more	skeletal system development GO · q=2.59e-3
Cluster 209	8	autosomal dominant epilepsy with auditory features, Epilepsy with auditory features, Familial temporal lobe epilepsy, Lateral temporal lobe epilepsy, lissencephaly with cerebellar hypoplasia and 3 more	Neuroactive ligand-receptor interaction Pathway · q=2.97e-12
Cluster 210	8	autosomal dominant hypocalcemia 1, Benign hypercalcemia, familial hypocalciuric hypercalcemia 1, Hereditary chronic pancreatitis, Hypocalciuric hypercalcemia and 3 more	Pancreatic secretion Pathway · q=3.53e-5
Cluster 211	8	Congenital myelofibrosis with anemia, Congenital neutropenia, immunodeficiency 76, Neutropenia, Neutropenia, nonimmune chronic idiopathic, adult and 3 more	SRP-dependent cotranslational protein targeting to membrane GO · q=5.58e-8
Cluster 212	8	Becker muscular dystrophy, Benign congenital myopathy, Duchenne muscular dystrophy, Dystrophinopathy, hereditary leiomyomatosis and renal cell cancer and 3 more	Dilated cardiomyopathy Pathway · q=6.26e-4
Cluster 213	8	Benign infantile epilepsy, Benign neonatal epilepsy, Benign neonatal-infantile seizures, Hemiplegia, neonatal encephalopathy with non-epileptic myoclonus and 3 more	monoatomic ion transport GO · q=1.18e-4
Cluster 214	8	Borderline personality disorder, Cervicitis, immunodeficiency 109 with lymphoproliferation, Kidney neoplasms, Nasopalpebral lipoma-coloboma syndrome and 3 more	Prostate cancer Pathway · q=2.34e-9
Cluster 215	8	Bladder neck obstruction, Carcinoma in situ, Curling ulcer, Diffuse gastric adenocarcinoma, Ovarian diseases and 3 more	Ovarian steroidogenesis Pathway · q=1.70e-4
Cluster 216	8	Blepharophimosis-ptosis-epicanthus inversus syndrome, Dicer1 syndrome, Dicer1 tumor-predisposition syndrome, Dicer1-related tumor predisposition, Granulosa cell tumor of ovary and 3 more	apoptotic DNA fragmentation GO · q=9.16e-5
Cluster 217	8	Blue cone monochromatism, Cone dystrophy, x-linked, Cone monochromatism, Deuteranomaly, red color blindness and 3 more	absorption of visible light GO · q=9.32e-12
Cluster 218	8	Brachyolmia, Brachyrachia, Congenital benign spinal muscular atrophy, Digital arthropathy-brachydactyly, familial, Parastremmatic dwarfism and 3 more	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO · q=3.31e-4
Cluster 219	8	Dacryocystitis, ectodermal dysplasia and immunodeficiency 2, Exanthema, Interleukin 1 receptor antagonist deficiency, Majeed syndrome and 3 more	Alcoholic liver disease Pathway · q=1.56e-4
Cluster 220	8	Cortical dysplasia, Cortical occipital malformations, Developmental delay with language impairment and movement disorder, Intellectual developmental disorder autism speech, Intellectual developmental disorder language neurodegenerative and 3 more	adult locomotory behavior GO · q=6.93e-3
Cluster 221	8	dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Feingold syndrome, myopathy, myofibrillar, 9, with early respiratory failure, Progressive contractures limb-girdle weakness muscle dystrophy syndrome and 3 more	skeletal muscle myosin thick filament assembly GO · q=7.03e-3
Cluster 222	8	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, encephalopathy, progressive, with amyotrophy and optic atrophy, Kenny caffey syndrome, Kenny-caffey syndrome and 3 more	post-chaperonin tubulin folding pathway GO · q=9.61e-5
Cluster 223	7	Congenital cataract hearing loss developmental delay syndrome, developmental and epileptic encephalopathy, 77, Epilepsy, Generalized epilepsy, Partial epilepsy and 2 more	chemical synaptic transmission GO · q=4.58e-34
Cluster 224	7	22q13 monosomy syndrome, 22q13.3 deletion syndrome, Hyperkalemia, phelan-mcdermid syndrome, sorsby fundus dystrophy and 2 more	positive regulation of long-term synaptic potentiation GO · q=1.97e-3
Cluster 225	7	17p13.3 microduplication syndrome, Chromosome 17p13.3 microdeletion syndrome, Clear cell sarcoma of kidney, Endometrial stromal sarcoma, microphthalmia, syndromic 2 and 2 more	negative regulation of transcription by RNA polymerase II GO · q=8.11e-3
Cluster 226	7	Abruzzo-erickson syndrome, Cleft palate with ankyloglossia, cleft palate with or without ankyloglossia, x-linked, Cleft palate x-linked, fanconi anemia complementation group d2 and 2 more	positive regulation of neuron migration GO · q=4.84e-3
Cluster 227	7	Absence epilepsy, Ataxia, Childhood absence epilepsy, Conn syndrome, Idiopathic generalized epilepsy and 2 more	monoatomic ion transport GO · q=5.98e-20
Cluster 228	7	Cranio-cervical dystonia, Dravet syndrome, Febrile convulsion, Female restricted epilepsy with intellectual disability, Generalized epilepsy with febrile seizures plus and 2 more	monoatomic ion transmembrane transport GO · q=3.45e-11
Cluster 229	7	Aplasia cutis congenita, Epidermolysa bullosa simplex and limb girdle muscular dystrophy, Epidermolysis bullosa, Junctional epidermolysis bullosa, mucopolysaccharidosis type 2 and 2 more	Type I hemidesmosome assembly Pathway · q=4.22e-26
Cluster 230	7	Congenital hypogonadotropic hypogonadism, holoprosencephaly 3, Partial agenesis of corpus callosum, Preaxial polydactyly with upper back hypertrichosis, Schizencephaly and 2 more	telencephalon regionalization GO · q=2.19e-4
Cluster 231	7	Apraxia, Cataplexy, Marinesco-sjogren syndrome, Niemann-pick disease, Niemann-Pick disease, type C1 and 2 more	cholesterol storage GO · q=1.78e-6
Cluster 232	7	Acral self-healing collodion baby, Congenital ichthyosiform erythroderma, Congenital ichthyosis, Congenital ichthyosis with hypotrichosis syndrome, Congenital nonbullous ichthyosiform erythroderma and 2 more	establishment of skin barrier GO · q=2.59e-9
Cluster 233	7	Acrofacial dysostosis, acrofacial dysostosis, weyers type, Curry-hall syndrome, Ellis-van creveld syndrome, primary ciliary dyskinesia 14 and 2 more	Hedgehog signaling pathway Pathway · q=1.51e-7
Cluster 234	7	Acromegaloid facial appearance syndrome, Cantu syndrome, dilated cardiomyopathy 1O, Hypertrichosis, hypertrichotic osteochondrodysplasia Cantu type and 2 more	ATP sensitive Potassium channels Pathway · q=5.84e-7
Cluster 235	7	Acromegaly, Chromosome xq26.3 duplication syndrome, Growth hormone-secreting pituitary adenoma, multiple endocrine neoplasia type 1, Pituitary adenoma and 2 more	adenylate cyclase-activating adrenergic receptor signaling pathway GO · q=5.58e-4
Cluster 236	7	Alpha-1 antitrypsin deficiency, Asbestosis, Beriberi, Gastro-entero-pancreatic neuroendocrine tumor, immunodeficiency 63 with lymphoproliferation and autoimmunity and 2 more	cellular response to lipopolysaccharide GO · q=3.02e-6
Cluster 237	7	Cutaneous mastocytosis, Intellectual developmental disorder growth seizures, isovaleric acidemia, Mastocytosis, Secondary malignant neoplasm and 2 more	'de novo' UMP biosynthetic process GO · q=1.32e-5
Cluster 238	7	ADAM9-related retinopathy, Age-related macular degeneration, Atrophic macular degeneration, Macular degeneration, RD3-related retinopathy and 2 more	visual perception GO · q=2.09e-16
Cluster 239	7	Adenylosuccinate lyase deficiency, Cholecystitis, Cholecystolithiasis, cone-rod dystrophy 20, Gallstones and 2 more	Bile secretion Pathway · q=2.11e-18
Cluster 240	7	Auricle malformation, Degcags syndrome, Diamond-blackfan anemia, diamond-blackfan anemia 6, Erythroid hypoplasia and 2 more	cytoplasmic translation GO · q=2.80e-35
Cluster 241	7	Cerebellar atrophy, Congenital cataract microcephaly intellectual disability syndrome, Congenital cerebellar hypoplasia, Dysarthria, Polyneuropathy and 2 more	response to hyperoxia GO · q=6.14e-4
Cluster 242	7	Allan-herndon-dudley syndrome, complex hereditary spastic paraplegia, Hereditary spastic paraplegia, hereditary spastic paraplegia 11, hereditary spastic paraplegia 18 and 2 more	vesicle-mediated transport GO · q=2.07e-4
Cluster 243	7	Bilateral vestibulopathy, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia, Cerebellar ataxia, neuropathy, and vestibular areflexia, Charcot-Marie-Tooth disease type 4, Hereditary sensory and motor neuropathy and 2 more	EGR2 and SOX10-mediated initiation of Schwann cell myelination Pathway · q=1.28e-7
Cluster 244	7	Ayazi syndrome, Choroideremia-deafness-obesity syndrome, Chromosome xq21 deletion syndrome, Deafness, aminoglycoside-induced, Deafness, nonsyndromic sensorineural, mitochondrial and 2 more	aerobic respiration GO · q=2.52e-3
Cluster 245	7	atransferrinemia, Congenital atransferrinemia, Hyperthermia, Hypochromic microcytic anemia, Hypochromic sideroblastic anemia and 2 more	intracellular iron ion homeostasis GO · q=9.35e-10
Cluster 246	7	Conjunctivitis, Developmental delay with autism spectrum disorder, FAS-related autoimmune lymphoproliferative immune disorder, hypoplasminogenemia, Laryngeal disease and 2 more	proteasome-mediated ubiquitin-dependent protein catabolic process GO · q=4.51e-3
Cluster 247	7	Atrophoderma vermiculata, Burnett schwartz berberian syndrome, Common migraine, Developmental dysplasia of the hip, Keratosis follicularis spinulosa decalvans and 2 more	positive regulation of lysosomal protein catabolic process GO · q=7.95e-4
Cluster 248	7	Angiofollicular ganglionic hyperplasia, Angiolymphoid hyperplasia, Castleman disease, Congenital microtia, Headache and 2 more	response to glucocorticoid GO · q=2.84e-4
Cluster 249	7	Angiokeratoma, Cavernous malformations of cns, Cerebral cavernous malformation, cerebral cavernous malformation 2, Congenital cerebral aneurysm and 2 more	endothelium development GO · q=4.57e-6
Cluster 250	7	Binocular vision disease, Brachycephaly, Coronal craniosynostosis, Extraskeletal myxoid chondrosarcoma, Sweeney-cox syndrome and 2 more	gene expression GO · q=1.45e-3
Cluster 251	7	hemochromatosis type 1, Hepatic veno occlusive disease, Polymyalgia rheumatica, Porphyria cutanea tarda, porphyria due to ALA dehydratase deficiency and 2 more	protoporphyrinogen IX biosynthetic process GO · q=1.40e-8
Cluster 252	7	Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome, Dystrophic epidermolysis bullosa, Hallopeau siemens disease and 2 more	motor neuron axon guidance GO · q=4.39e-3
Cluster 253	7	Arts syndrome, Ataxia with deafness and vision loss, phosphoribosylpyrophosphate synthetase superactivity, Prpp synthetase superactivity, PRPS1 deficiency disorder and 2 more	subthalamic nucleus development GO · q=6.20e-3
Cluster 254	7	Anti-glomerular basement membrane disease, Autoimmune pulmonary alveolar proteinosis, Congenital pulmonary artery atresia, Follicular lymphoma, Heerfordt syndrome and 2 more	Autoimmune thyroid disease Pathway · q=1.25e-4
Cluster 255	7	Arachnoid cysts, Benign mesial temporal lobe epilepsy, Corpus callosum agenesis with abnormal genitalia, Lissencephaly, x-linked, Periventricular heterotopia and 2 more	glycine receptor clustering GO · q=8.59e-3
Cluster 256	7	Bilirubin metabolism disease, Crigler-najjar syndrome, Gilbert syndrome, Hyperbilirubinemia, Lucey-driscoll syndrome and 2 more	negative regulation of fatty acid metabolic process GO · q=7.41e-22
Cluster 257	7	Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Bockenheimer syndrome, Congenital venous anomaly, Mucocutaneous venous malformations and 2 more	Tie2 Signaling Pathway · q=1.90e-5
Cluster 258	7	Arthrogryposis, childhood-onset nemaline myopathy, Congenital finger flexion contractures, Digitotalar dysmorphism, Distal arthrogryposis and 2 more	Striated Muscle Contraction Pathway · q=7.33e-13
Cluster 259	7	autosomal recessive osteopetrosis 2, Bone resorption, Hypercalcemia, Hypercalciuria, Idiopathic infantile hypercalcemia and 2 more	response to vitamin D GO · q=2.11e-10
Cluster 260	7	Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar ataxia, intellectual disability, and dysequilibrium, cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1, Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts, Cerebellar ataxia, mental retardation, and dysequilibrium and 2 more	involuntary skeletal muscle contraction GO · q=7.81e-3
Cluster 261	7	Carotid atherosclerosis, hereditary nonpolyposis colon cancer, Rhabdoid tumor predisposition syndrome, rhabdoid tumor predisposition syndrome 2, Small cell ovary carcinoma and 2 more	positive regulation of glucose mediated signaling pathway GO · q=1.33e-4
Cluster 262	7	Bone marrow failure and diabetes mellitus syndrome, cardiomyopathy, dilated, 2j, Eye disease, Hyperopia, Myopia and 2 more	visual perception GO · q=3.25e-8
Cluster 263	7	Erythematosquamous dermatosis, Ichthyosis vulgaris, nephrotic syndrome 14, netherton syndrome, Sebaceous gland disease and 2 more	melanin biosynthetic process from tyrosine GO · q=3.16e-5
Cluster 264	7	Autoinflammation with infantile enterocolitis, Cria syndrome, Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome, Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome, immunodeficiency 57 and 2 more	interleukin-10-mediated signaling pathway GO · q=7.71e-7
Cluster 265	7	autosomal dominant osteopetrosis 2, autosomal recessive osteopetrosis 4, autosomal recessive osteopetrosis 5, autosomal recessive osteopetrosis 8, hypopigmentation, organomegaly, and delayed myelination and development and 2 more	osteoclast differentiation GO · q=2.42e-11
Cluster 266	7	Blast crisis, Chromosome 22q11.2 microdeletion syndrome, hyper-IgM syndrome type 2, hyper-IgM syndrome type 3, Hyper-immunoglobulin m syndrome and 2 more	Primary immunodeficiency Pathway · q=9.18e-7
Cluster 267	7	combined immunodeficiency due to MALT1 deficiency, Congenital aortic valve atresia, Congenital mitral valve atresia, Intellectual developmental disorder language autism, Intellectual developmental disorder seizures hypotonia skeletal and 2 more	response to fungus GO · q=1.01e-4
Cluster 268	7	Benign samaritan congenital myopathy, Central core disease, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia and 2 more	cellular response to caffeine GO · q=3.17e-5
Cluster 269	7	Bilateral frontoparietal polymicrogyria, Bilateral perisylvian polymicrogyria, Combined immunodeficiency-multiple intestinal atresia, Combined immunodeficiency, enteropathy spectrum, Gastrointestinal defects and immunodeficiency syndrome and 2 more	phosphatidylinositol phosphate biosynthetic process GO · q=3.20e-3
Cluster 270	7	Dermatopathia pigmentosa reticularis, Ductal carcinoma of breast, Epidermolysis bullosa simplex, Papilloma, Sjogren-larsson syndrome and 2 more	Gastric cancer Pathway · q=1.80e-8
Cluster 271	7	Chagas cardiomyopathy, Chudley-mccullough syndrome, Hereditary elliptocytosis, hereditary spherocytosis, Neonatal anemia and 2 more	'de novo' UMP biosynthetic process GO · q=1.48e-6
Cluster 272	7	Brain aneurysm, Cortical dysplasia-focal epilepsy syndrome, Dyslexia, holocarboxylase synthetase deficiency, Male infertility acephalic spermatozoa and 2 more	vocal learning GO · q=7.72e-5
Cluster 273	7	Combined pituitary hormone deficiency, Growth hormone deficiency with pituitary anomalies, hypogonadotropic hypogonadism 3 with or without anosmia, Pituitary hormone deficiency, Septo-optic dysplasia and 2 more	pituitary gland development GO · q=1.90e-10
Cluster 274	7	Donohue syndrome, Insulin resistant diabetes mellitus, Insulin resistant diabetes mellitus with acanthosis nigricans, insulin-resistance syndrome type A, Insulin-resistant diabetes mellitus with acanthosis nigricans and 2 more	glucose homeostasis GO · q=1.83e-3
Cluster 275	7	Chronic infantile diarrhea due to guanylate cyclase 2c overactivity, Congenital chloride diarrhea, Congenital chronic diarrhea with protein-losing enteropathy, Congenital diarrhea, Congenital secretory diarrhea and 2 more	Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) Pathway · q=1.18e-2
Cluster 276	7	Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Sengers syndrome, Trichohepatoenteric syndrome, trichohepatoenteric syndrome 1 and 2 more	apoptotic mitochondrial changes GO · q=9.93e-4
Cluster 277	7	L1 syndrome, Masa syndrome, Partial corpus callosum agenesis, x-linked, X-linked complicated corpus callosum dysgenesis, X-linked complicated spastic paraplegia and 2 more	Recycling pathway of L1 Pathway · q=8.90e-4
Cluster 278	7	Corpus callosum agenesis with facial anomalies and cerebellar ataxia, Craniofacial microsomia, Deafness with congenital inner ear agenesis, microtia, and microdontia, Deafness with labyrinthine aplasia, microtia, and microdontia, Intestinal dysmotility syndrome and 2 more	protein localization to membrane GO · q=6.93e-3
Cluster 279	6	acute myeloid leukemia, ciliary dyskinesia, primary, 44, hearing loss, autosomal recessive, Hoarding disorder, Pericarditis and 1 more	sensory perception of sound GO · q=9.76e-3
Cluster 280	6	14q11.2 microduplication syndrome, Chromodomain helicase dna binding protein 8 overgrowth syndrome, Congenital corneal opacity, Congenital ptosis, FOXG1 disorder and 1 more	brain development GO · q=1.38e-4
Cluster 281	6	Congenital retrognathism, greenberg dysplasia, Pelger-huet anomaly, regressive spondylometaphyseal dysplasia, Reynolds syndrome and 1 more	face morphogenesis GO · q=2.14e-3
Cluster 282	6	Amblyopia, Astigmatism, Christianon syndrome, Christianson syndrome, CNGB1-related retinopathy and 1 more	detection of light stimulus involved in visual perception GO · q=4.45e-4
Cluster 283	6	Adrenal gland neoplasms, Corneal disease, Corneal edema, Paranoia, pitt-hopkins syndrome and 1 more	MET activates PTK2 signaling Pathway · q=1.73e-3
Cluster 284	6	Adult myoclonic epilepsy, Benign adult familial myoclonic epilepsy, Benign myoclonic epilepsy, Early onset epilepsy with developmental delay, Familial adult myoclonic epilepsy and 1 more	monoatomic ion transmembrane transport GO · q=2.72e-6
Cluster 285	6	17p11.2 microduplication syndrome, Birt-hogg-dube syndrome, obsolete Birt-Hogg-Dube syndrome, Potocki-lupski syndrome, Smith-magenis syndrome and 1 more	negative regulation of cell proliferation involved in kidney development GO · q=6.20e-3
Cluster 286	6	Arboleda-tham syndrome, Congenital heart defect, intellectual disability, facial dysmorphism syndrome, Diets-jongmans syndrome, Intellectual disability with craniofacial anomalies and cardiac defects, Intellectual disability with craniofacial dysmorphism and macrocephaly and 1 more	chromatin organization GO · q=1.48e-6
Cluster 287	6	19p13.3 microduplication syndrome, Malan overgrowth syndrome, Malan syndrome, marshall-smith syndrome, neurodevelopmental disorder with severe motor impairment and absent language and 1 more	brain development GO · q=2.43e-3
Cluster 288	6	Biliary cholangitis, Biliary cirrhosis, Inner ear disease, Liver cirrhosis, Liver disease and 1 more	immune response GO · q=5.44e-21
Cluster 289	6	Berylliosis, Cervical disc degenerative disorder, Gouty arthritis, Intervertebral disc disease, Trigeminal neuralgia and 1 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=4.22e-13
Cluster 290	6	Chromosome 22q11.2 microduplication syndrome, Common arterial trunk with aortic dominance, Common arterial trunk with pulmonary dominance and interrupted aortic arch, Conotruncal anomaly face syndrome, GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes and 1 more	outflow tract septum morphogenesis GO · q=1.29e-3
Cluster 291	6	Astrocytoma, Central nervous system cancer, Glioblastoma, Glioma, systemic lupus erythematosus 18 and 1 more	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction GO · q=2.12e-6
Cluster 292	6	3mc syndrome, 3mc syndrome 1, Carnevale syndrome, Craniofacial ulnar renal syndrome, Malpuech facial clefting syndrome and 1 more	Lectin pathway of complement activation Pathway · q=9.36e-7
Cluster 293	6	Aapoai amyloidosis, Apolipoprotein a-i amyloidosis, Apolipoprotein a-i deficiency, Ataxia with vitamin e deficiency, Hypoalphalipoproteinemia and 1 more	Cholesterol metabolism Pathway · q=9.37e-9
Cluster 294	6	Acatalasia, amyotrophic lateral sclerosis type 1, Aortic disease, Bonnevie-ullrich syndrome, Turner syndrome and 1 more	Detoxification of Reactive Oxygen Species Pathway · q=7.55e-7
Cluster 295	6	Achromatopsia, ATF6-related retinopathy, CNGA3-related retinopathy, CNGB3-related retinopathy, GNAT2-related retinopathy and 1 more	visual perception GO · q=5.29e-9
Cluster 296	6	Charcot-Marie-tooth disease, axonal, type 2DD, Cushing syndrome, Cushing's disease, DDOST-congenital disorder of glycosylation, Hyperaldosteronism and 1 more	Cushing syndrome Pathway · q=1.20e-7
Cluster 297	6	Ameloblastoma, Congenital hypothalamic hamartoma syndrome, Curry-jones syndrome, Meningioma, mosaic SMO syndrome and 1 more	Hepatocellular carcinoma Pathway · q=2.86e-6
Cluster 298	6	Congenital communicating hydrocephalus, Congenital hydrocephalus, Cryptospermia, Hydrocephalus, scott syndrome and 1 more	neural tube closure GO · q=1.01e-3
Cluster 299	6	Atypical teratoid rhabdoid tumor, Coffin-siris syndrome, NF2-related schwannomatosis, Rhabdoid tumor, rhabdoid tumor predisposition syndrome 1 and 1 more	regulation of G0 to G1 transition GO · q=1.35e-21
Cluster 300	6	Alanine-glyoxylate aminotransferase deficiency, Brachydactyly-elbow wrist dysplasia syndrome, Hyperoxaluria, mucopolysaccharidosis type 1, Pfaundler-hurler syndrome and 1 more	glyoxylate metabolic process GO · q=6.52e-7
Cluster 301	6	Alazami-yuan syndrome, Congenital muscular hypertrophy-cerebral syndrome, Cornelia de lange syndrome, De lange syndrome, Wiedemann-steiner syndrome and 1 more	establishment of mitotic sister chromatid cohesion GO · q=1.93e-9
Cluster 302	6	Albinism, Eye neoplasms, Oculocutaneous albinism, Prader-willi syndrome, Rufous oculocutaneous albinism and 1 more	melanin biosynthetic process GO · q=4.56e-14
Cluster 303	6	Bone disease, Bone fracture, Dupuytren contracture, Metabolic bone disorder, Parkinsonism with polyneuropathy and 1 more	canonical Wnt signaling pathway GO · q=7.29e-10
Cluster 304	6	Bell's palsy, Charcot-Marie-Tooth disease axonal type 2CC, Nervous system disease, Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease and 1 more	Antifolate resistance Pathway · q=1.12e-8
Cluster 305	6	alkylglycerone-phosphate synthase deficiency, Chondrodysplasia, chondrodysplasia with joint dislocations, gpapp type, glyceronephosphate O-acyltransferase deficiency, Rhizomelic chondrodysplasia punctata and 1 more	ether lipid biosynthetic process GO · q=5.83e-6
Cluster 306	6	Alpha-1 antichymotrypsin deficiency, Hemolytic disease of fetus and newborn, Rh deficiency syndrome, Rh isoimmunization, Rh-null, amorph type and 1 more	ammonium homeostasis GO · q=4.96e-8
Cluster 307	6	Bethlem myopathy, collagen 6-related myopathy, Collagen vi muscular dystrophy, Collagen vi-related myopathy, dystonia 27 and 1 more	Collagen chain trimerization Pathway · q=8.42e-14
Cluster 308	6	Comp-related skeletal dysplasia, Epiphyseal dysplasia, Laryngeal hypoplasia, Marshall syndrome, Stickler syndrome and 1 more	Collagen biosynthesis and modifying enzymes Pathway · q=5.07e-14
Cluster 309	6	Charcot-Marie-Tooth disease, demyelinating, type 1J, Graves disease, Hashimoto disease, Hyperthyroidism, Thyroid disease and 1 more	Autoimmune thyroid disease Pathway · q=4.42e-23
Cluster 310	6	Benign concentric annular macular dystrophy, Distal myopathy, IMPG1-related dominant retinopathy, IMPG1-related recessive retinopathy, IMPG2-related recessive retinopathy and 1 more	detection of muscle stretch GO · q=6.25e-4
Cluster 311	6	amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Childhood-onset basal ganglia degeneration syndrome, hypogonadotropic hypogonadism 1 with or without anosmia, Micropenis and 1 more	Synthesis of PIPs at the late endosome membrane Pathway · q=2.26e-4
Cluster 312	6	amyotrophic lateral sclerosis type 19, Conjunctival disease, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Gallbladder neoplasms, Peritoneal disease and 1 more	Signaling by ERBB2 TMD/JMD mutants Pathway · q=3.35e-7
Cluster 313	6	focal segmental glomerulosclerosis 4, susceptibility to, Hydronephrosis, Hypertensive heart disease, Hypertensive nephropathy, Kidney atrophy and 1 more	regulation of blood pressure GO · q=6.57e-4
Cluster 314	6	Analbuminemia, Anuria, Blood protein disorder, Congenital analbuminemia, Dysalbuminemic hyperthyroxinemia and 1 more	positive regulation of epidermal growth factor receptor signaling pathway GO · q=4.60e-4
Cluster 315	6	Boichis syndrome, Cerebellar malformation, Chylomicron retention disease, Coach syndrome, Rhyns syndrome and 1 more	cilium assembly GO · q=3.06e-8
Cluster 316	6	Brachydactyly-short stature-retinits pigmentosa syndrome, Diverticulitis, Metaphyseal chondrodysplasia with retinitis pigmentosa, metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Osteonecrosis and 1 more	synaptic membrane adhesion GO · q=2.08e-4
Cluster 317	6	Anisometropia, Concussion, Lipomatosis, maturity-onset diabetes of the young type 8, PTEN hamartoma tumor syndrome and 1 more	synapse assembly GO · q=5.99e-3
Cluster 318	6	Bile duct disease, Bronchopneumonia, Creutzfeldt-jakob disease, Erythropoietic protoporphyria, protoporphyria, erythropoietic, 1 and 1 more	ERBB2-EGFR signaling pathway GO · q=3.34e-5
Cluster 319	6	Aplasia and myelodysplasia, bone marrow failure syndrome 3, Bone marrow failure syndromes, Congenital bone marrow failure syndrome, Shwachman-diamond syndrome and 1 more	SRP-dependent cotranslational protein targeting to membrane GO · q=1.72e-8
Cluster 320	6	cardiomyopathy, dilated, 2k, COG6-congenital disorder of glycosylation, Juvenile arthritis, Juvenile idiopathic arthritis, Oligoarticular juvenile idiopathic arthritis and 1 more	Th17 cell differentiation Pathway · q=8.84e-12
Cluster 321	6	Aplasia of lacrimal and salivary glands, Craniofacial dysostosis, Lacrimoauriculodentodigital syndrome, Ladd syndrome, Saethre-chotzen syndrome and 1 more	fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO · q=7.60e-6
Cluster 322	6	Hereditary hyperekplexia, Hyperekplexia, hyperekplexia 3, Hyperexplexia hereditary, Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome and 1 more	synaptic transmission, glycinergic GO · q=6.34e-9
Cluster 323	6	Beckwith-wiedemann syndrome, Childhood apraxia of speech, Chorioretinal atrophy, Chromosomal disorder, Russell-silver syndrome and 1 more	insulin-like growth factor receptor signaling pathway GO · q=8.94e-6
Cluster 324	6	Arhinia-choanal atresia-microphthalmia syndrome, arhinia, choanal atresia, and microphthalmia, Bosma arhinia microphthalmia syndrome, Chediak-higashi syndrome, Facioscapulohumeral muscular dystrophy and 1 more	dosage compensation by inactivation of X chromosome GO · q=2.44e-4
Cluster 325	6	Arteritis, Central retinal vein occlusion, Congenital thrombotic thrombocytopenic purpura, hereditary thrombophilia due to congenital protein C deficiency, Three-vessel coronary artery disease and 1 more	response to toxic substance GO · q=1.95e-4
Cluster 326	6	Capillary leak syndrome, Coronary artery vasospasm, Coronary vasospasm, Intestinal perforation, Resistant hypertension and 1 more	Nitric oxide stimulates guanylate cyclase Pathway · q=1.15e-4
Cluster 327	6	Arthralgia, Bone marrow neoplasms, Hyper-igd syndrome, Hyper-immunoglobulin d syndrome, methylmalonic aciduria, cblb type and 1 more	isoprenoid biosynthetic process GO · q=2.74e-4
Cluster 328	6	Atrioventricular excitation abnormality, Bile duct disorder, dilated cardiomyopathy 1EE, Keppen-lubinsky syndrome, MYH-6 related congenital heart defects and 1 more	Oxytocin signaling pathway Pathway · q=2.43e-3
Cluster 329	6	Intellectual developmental disorder microcephaly cerebellar, intellectual disability, X-linked 107, Partington syndrome, X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability, X-linked myopathy with excessive autophagy and 1 more	rhythmic process GO · q=4.42e-3
Cluster 330	6	Autoimmune hemolytic anemia, Autoimmune thrombocytopenic purpura, Autoimmunity-autoinflammation-immunodeficiency syndrome, Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome, familial, with or without immunodeficiency and 1 more	positive regulation of Wnt signaling pathway, planar cell polarity pathway GO · q=2.64e-3
Cluster 331	6	Biliary atresia, Central hypoventilation syndrome, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, Congenital central hypoventilation syndrome, Haddad syndrome and 1 more	neural crest cell migration GO · q=7.57e-13
Cluster 332	6	autosomal dominant cerebellar ataxia, deafness and narcolepsy, Cerebellar ataxia with deafness and narcolepsy, Cerebellar ataxia, deafness, and narcolepsy, Cerebral atrophy, Dominantly inherited sensory neuropathy and 1 more	cell motility GO · q=5.57e-3
Cluster 333	6	autosomal dominant nebulin-related myopathy, Congenital neck anomaly, Deglutition disorder, Distal nebulin myopathy, Nebulin-related myopathy and 1 more	tRNA-type intron splice site recognition and cleavage GO · q=4.18e-8
Cluster 334	6	Embryonal carcinoma, Gingival diseases, Gingivitis, Hodgkin disease, Hyaline fibromatosis and 1 more	Prostate cancer Pathway · q=2.05e-7
Cluster 335	6	Benta disease, Congenital cardiovascular anomaly, Fanconi anemia complementation group C, immunodeficiency 11b with atopic dermatitis, Osteopenia and 1 more	response to peptide hormone GO · q=6.90e-3
Cluster 336	6	brain dopamine-serotonin vesicular transport disease, Combined oxidative phosphorylation defect, Dopamine transporter deficiency syndrome, Mild cognitive impairment, Parkinsonism-dystonia and 1 more	monoamine transport GO · q=2.04e-4
Cluster 337	6	Beta-ureidopropionase deficiency, Cryptogenic west syndrome, Epilepsy due to perinatal stroke, Infantile spasms, medium chain acyl-coa dehydrogenase deficiency and 1 more	cerebral cortex development GO · q=4.21e-5
Cluster 338	6	Clonal cytopenia of undetermined significance, Developmental delay with behavioral abnormalities, heyn-sproul-jackson syndrome, Microcephalic dwarfism, Specific learning disability and 1 more	ERBB signaling pathway GO · q=2.06e-4
Cluster 339	6	Lafora disease, Myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy with renal failure, progressive myoclonus epilepsy and 1 more	regulation of protein localization to plasma membrane GO · q=3.50e-4
Cluster 340	6	Bleeding esophageal varices, Dyshidrosis, Esophageal and gastric varices, Esophageal varices, Sweat gland disease and 1 more	regulation of postsynaptic membrane neurotransmitter receptor levels GO · q=4.19e-3
Cluster 341	6	Bundle branch block, Coronary aneurysm, Dock2 deficiency, Intellectual developmental disorder expressive speech dysmorphic, Intellectual developmental disorder speech dysmorphic and 1 more	nervous system development GO · q=6.56e-3
Cluster 342	6	Hypocalcemic vitamin d-dependent rickets, Pancreatic trypsinogen deficiency, Peptic esophagitis, Rickets, Vitamin d dependent rickets and 1 more	calcitriol biosynthetic process from calciol GO · q=3.26e-7
Cluster 343	6	Bohring syndrome, Bohring-opitz syndrome, Bohring-opitz-like syndrome, Cold-induced sweating syndrome, Crisponi syndrome and 1 more	IL-6-type cytokine receptor ligand interactions Pathway · q=3.71e-4
Cluster 344	6	cenani-lenz syndactyly syndrome, congenital myasthenic syndrome 17, Ehlers-Danlos syndrome, spondylocheirodysplastic type, Sclerosteosis, Tooth abnormalities and 1 more	animal organ morphogenesis GO · q=1.22e-6
Cluster 345	6	Bone marrow diseases, Cerebellar diseases, dyskeratosis congenita, autosomal dominant 3, Mowat-wilson syndrome, Revesz debuse syndrome and 1 more	hindbrain development GO · q=1.76e-3
Cluster 346	6	Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome, Bresek syndrome, Congenital palmoplantar and perioral keratoderma of olmsted, ifap syndrome 1, with or without bresheck syndrome, Keratosis follicularis spinulosa decalvans, x-linked and 1 more	negative regulation of hair cycle GO · q=5.28e-3
Cluster 347	6	Carbamoyl phosphate synthetase deficiency, Congenital facial anomaly, Congenital hypoplastic anemia, developmental and epileptic encephalopathy, 50, Hypoplastic anemia and 1 more	'de novo' pyrimidine nucleobase biosynthetic process GO · q=4.96e-8
Cluster 348	6	Caudate atrophy, Cerebral cortical atrophy, Nasu-hakola disease, Paraplegia, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and 1 more	DNA-templated transcription termination GO · q=1.16e-5
Cluster 349	6	Caveolinopathy, Chromosome 3p25 monosomy, Creatine phosphokinase elevation, DPAGT1-congenital disorder of glycosylation, Rippling muscle disease and 1 more	regulation of calcium ion transport GO · q=1.95e-5
Cluster 350	6	Cerebral saccular aneurysm, Connective and soft tissue disorder, ehlers-danlos syndrome, vascular type, Intracranial aneurysm, Nephrosclerosis and 1 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=2.26e-8
Cluster 351	6	Cerebral embolism, Hypercalcemic tumoral calcinosis, Hyperphosphatemic tumoral calcinosis, Intracranial embolism, Tumoral calcinosis and 1 more	FGFR1c and Klotho ligand binding and activation Pathway · q=1.45e-5
Cluster 352	6	Cerebrooculofacioskeletal syndrome, Cockayne spectrum with or without cerebrooculofacioskeletal syndrome, Cockayne syndrome, Cockayne syndrome type 1, De sanctis-cacchione syndrome and 1 more	Nucleotide excision repair Pathway · q=8.45e-15
Cluster 353	6	Childhood-onset sensorineural hearing impairment, Hydrops with lactic acidosis and sideroblastic anemia, Perrault syndrome, perrault syndrome 2, Progressive arterial occlusive disease with hypertension and 1 more	mitochondrial translation GO · q=6.59e-5
Cluster 354	6	Cholesteatoma, Coagulation factor deficiency syndrome, Congenital factor xiii deficiency, Factor xiii deficiency, factor XIII, A subunit, deficiency of and 1 more	hemostasis GO · q=7.18e-5
Cluster 355	6	developmental and epileptic encephalopathy, 80, Hyperphosphatasia with intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 1, hyperphosphatasia with intellectual disability syndrome 4, hyperphosphatasia with intellectual disability syndrome 6 and 1 more	GPI anchor biosynthetic process GO · q=5.05e-20
Cluster 356	6	Colorectal cancer susceptibility, colorectal cancer, susceptibility to, 1, mandibular hypoplasia-deafness-progeroid syndrome, non-severe combined immunodeficiency due to polymerase delta deficiency, Paraquat lung disease and 1 more	PCNA-Dependent Long Patch Base Excision Repair Pathway · q=9.86e-6
Cluster 357	6	IL21-related infantile inflammatory bowel disease, Multiple epiphyseal dysplasia with early-onset diabetes mellitus, Progressive supranuclear palsy, Sialolithiasis, TRAF3 haploinsufficiency and 1 more	negative regulation of mitochondrial fission GO · q=2.17e-3
Cluster 358	6	Erythrocyte galactose epimerase deficiency, Erythrocyte udp-galactose-4-epimerase deficiency, galactose epimerase deficiency, Galactosemia, Udp-glucose 4-epimerase deficiency and 1 more	galactose catabolic process via UDP-galactose, Leloir pathway GO · q=7.63e-13
Cluster 359	6	hypomagnesemia, seizures, and intellectual disability 1, Intestinal hypomagnesemia, Magnesium metabolism disorder, renal hypomagnesemia 3, renal hypomagnesemia 4 and 1 more	magnesium ion transmembrane transport GO · q=2.07e-6
Cluster 360	5	Dna ligase iv deficiency, Dubowitz syndrome, Intellectual developmental disorder short stature behavioral, Lig4 syndrome, Spondylosis	immunoglobulin V(D)J recombination GO · q=1.59e-3
Cluster 361	5	Benign epithelial tumor of salivary glands, Liposarcoma, melanoma, cutaneous malignant, susceptibility to, 3, silver-russell syndrome 5, Well-differentiated liposarcoma	vascular associated smooth muscle cell migration GO · q=5.59e-5
Cluster 362	5	15q24 microdeletion, Chromosome 15q24 deletion syndrome, Congenital diaphragmatic hernia, SIN3A-related intellectual disability syndrome, Witteveen-kolk syndrome	anatomical structure morphogenesis GO · q=3.64e-6
Cluster 363	5	17 alpha-hydroxyprogesterone aldolase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency, 46,xy disorder of sex developmen, Disorders of sex development, Male pseudohypopituitarism	progesterone metabolic process GO · q=1.07e-11
Cluster 364	5	Ataxia telangiectasia, ATM-related cancer predisposition, Chromosome 17q21.31 deletion syndrome, Conjunctival telangiectasis, Intracranial germ cell tumor	positive regulation of protein-containing complex assembly GO · q=3.40e-6
Cluster 365	5	1p21.3 microdeletion syndrome, Anal polyp, Dihydropyrimidinase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine metabolism disorder	uracil catabolic process GO · q=1.41e-5
Cluster 366	5	Bile acid malabsorption, Brain disease, Cognition disorder, Delirium, dementia, and cognitive disorders, Diabetes complications	negative regulation of gene expression GO · q=6.58e-10
Cluster 367	5	3-hydroxyisobutyryl-coa hydrolase deficiency, Beta-hydroxyisobutyryl-coa deacylase deficiency, Cowchock syndrome, X-linked hereditary sensory and autonomic neuropathy with deafness, X-linked hereditary sensory and autonomic neuropathy with hearing loss	protein import into mitochondrial intermembrane space GO · q=9.31e-3
Cluster 368	5	BAP1-related tumor predisposition syndrome, Mucoepidermoid carcinoma, Testicular neoplasms, Tumor predisposition syndrome, tumor predisposition syndrome 2	cell population proliferation GO · q=3.78e-5
Cluster 369	5	IFIH1-related type 1 interferonopathy, joubert syndrome 3, Microscopic colitis, Selective iga deficiency disease, Selective immunoglobulin a deficiency	Allograft rejection Pathway · q=1.31e-4
Cluster 370	5	8q24.3 microdeletion syndrome, Charge syndrome, Intellectual developmental disorder dysmorphic cardiac short stature, kabuki syndrome 2, Verheij syndrome	chromatin remodeling GO · q=5.19e-4
Cluster 371	5	Carbohydrate metabolism disease, Carbohydrate metabolism disorder, MPI-congenital disorder of glycosylation, Transaldolase deficiency, Triose phosphate isomerase deficiency	Carbon metabolism Pathway · q=1.45e-6
Cluster 372	5	Cardiomegaly, HAND2 related congenital heart defect, oligodontia-cancer predisposition syndrome, Ventricular dysfunction, Ventricular remodeling	response to hypoxia GO · q=3.22e-17
Cluster 373	5	Alagille syndrome, Corneal opacity, Deafness with congenital heart defects and posterior embryotoxon, Hepatic ductular hypoplasia, Proximal renal tubular acidosis	ciliary body morphogenesis GO · q=2.23e-5
Cluster 374	5	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, inherited thrombocytopenia, Myofibromatosis	positive regulation of smooth muscle cell proliferation GO · q=1.68e-3
Cluster 375	5	Activated pi3k-delta syndrome, Combined immunodeficiency with facio-oculo-skeletal anomalies, immunodeficiency 14, immunodeficiency 14b, autosomal recessive, Roifman syndrome	Synthesis of PIPs at the plasma membrane Pathway · q=3.65e-5
Cluster 376	5	agammaglobulinemia 7, autosomal recessive, Diffuse idiopathic skeletal hyperostosis, immunodeficiency 122, PIK3R1-related immunodeficiency and SHORT syndrome, Short syndrome	transcription by RNA polymerase II GO · q=8.35e-3
Cluster 377	5	Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital myopathy, Congenital structural myopathy, myopathy, centronuclear, 5	muscle organ development GO · q=2.61e-15
Cluster 378	5	ADAR-related type 1 interferonopathy, Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, Dyschromatosis, Dyschromatosis symmetrica hereditaria, Rotator cuff tear	cellular detoxification of cadmium ion GO · q=1.63e-4
Cluster 379	5	Aicardi goutieres syndrome, Interferonopathy, RNASEH2A-related type 1 interferonopathy, RNASEH2B-related type 1 interferonopathy, RNASEH2C-related type 1 interferonopathy	mismatch repair GO · q=9.31e-8
Cluster 380	5	Cerebral creatine deficiency syndrome, Creatine deficiency, Creatine transporter deficiency, Guanidinoacetate methyltransferase deficiency, X-linked creatine transporter deficiency	creatine metabolic process GO · q=1.48e-9
Cluster 381	5	Agnathia-otocephaly, Dysgnathia complex, Mak-related retinopathy, Otosclerosis, Retrognathia	positive regulation of bone resorption GO · q=4.60e-4
Cluster 382	5	Charcot-Marie-Tooth disease type 1A, Demyelinating diseases, Hereditary neuropathy with liability to pressure palsies, Merkel cell carcinoma, Paresthesia	central nervous system development GO · q=1.34e-5
Cluster 383	5	alacrima, achalasia, and intellectual disability syndrome, Glucocorticoid deficiency with achalasia, Intellectual developmental disorder movement cerebellar, Intellectual disability with strabismus syndrome, Triple a syndrome	negative regulation of phosphate metabolic process GO · q=6.20e-3
Cluster 384	5	Aland island eye disease, CACNA1F-related retinopathy, Cone-rod synaptic disorder, Ocular albinism, Usher syndrome type 2D	visual perception GO · q=1.20e-3
Cluster 385	5	Ciliary dyskinesia with retinitis pigmentosa, Cone-rod dystrophy, x-linked, Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness, RPGR-related retinopathy, X-linked cone-rod dystrophy	visual perception GO · q=3.72e-3
Cluster 386	5	Alopecia-intellectual disability syndrome, Amr syndrome, Cataract-alopecia-sclerodactyly syndrome, Palmoplantar keratoderma and congenital alopecia, Perniola krajewska carnevale syndrome	triterpenoid biosynthetic process GO · q=4.31e-3
Cluster 387	5	Alpha-methylacyl-coa racemase deficiency, Congenital bile acid synthesis defect, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital bile acid synthesis defect 6	bile acid biosynthetic process GO · q=6.04e-15
Cluster 388	5	ALPL-related autosomal dominant hypophosphatasia, ALPL-related autosomal recessive hypophosphatasia, Childhood hypophosphatasia, Hypophosphatasia, Micromelia	response to lipopolysaccharide GO · q=2.41e-3
Cluster 389	5	Amelocerebrohypohidrotic syndrome, Continuous spike and wave during sleep syndrome, Continuous spike and wave during slow wave sleep syndrome, Focal epilepsy with speech disorder and impaired intellectual development, Pyridoxine dependent epilepsy	memory GO · q=5.77e-4
Cluster 390	5	Amelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Enamel-renal syndrome, Hypomaturation amelogenesis imperfecta	biomineral tissue development GO · q=1.03e-17
Cluster 391	5	Calcinosis, Heart valve disease, Heart valve prolapse, Hereditary arterial and articular multiple calcification syndrome, Vitamin k deficiency	Interleukin-4 and Interleukin-13 signaling Pathway · q=7.24e-15
Cluster 392	5	Asperger syndrome, Behavior disorders, Dysthymic disorder, Early-onset obesity-hyperphagia-severe developmental delay syndrome, Fatigue syndrome	positive regulation of cAMP/PKA signal transduction GO · q=5.71e-3
Cluster 393	5	Cataract-multisystem syndrome, Dkc1-related disorder, dyskeratosis congenita, x-linked, pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, X-linked dyskeratosis congenita	Telomere Extension By Telomerase Pathway · q=7.01e-7
Cluster 394	5	Antecubital pterygium syndrome, Bile duct cancer, Intellectual developmental disorder dysmorphic brain, intellectual disability-obesity-brain malformations-facial dysmorphism syndrome, Malunion fracture	lipopolysaccharide-mediated signaling pathway GO · q=8.44e-3
Cluster 395	5	Hemiparkinsonism, Parkinsonian-pyramidal syndrome, Secondary parkinson disease, Thyroid hemiagenesis, Vesiculobullous skin disease	response to amphetamine GO · q=2.48e-4
Cluster 396	5	Brittle cornea syndrome, Congenital anomaly of limb, Congenital skin anomaly, geroderma osteodysplastica, Skin abnormalities	skeletal system development GO · q=2.56e-9
Cluster 397	5	Apnea, Butyrylcholinesterase deficiency, Paralysis, Paresis, Trismus	serotonin metabolic process GO · q=1.13e-3
Cluster 398	5	Arachnodactyly, Byzanthine arch palate, Ck syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, Perisylvian polymicrogyria	post-embryonic eye morphogenesis GO · q=1.63e-4
Cluster 399	5	Coenzyme q10 deficiency, Coq7-related distal hereditary motor neuropathy, Deafness, encephaloneuropathy, obesity, valvulopathy syndrome, Primary coenzyme q10 deficiency, primary coenzyme Q10 deficiency 8	ubiquinone biosynthetic process GO · q=2.72e-23
Cluster 400	5	Congenital blindness, Congenital nystagmus, Retinitis pigmentosa with choroidal involvement, RPE65-related dominant retinopathy, RPE65-related recessive retinopathy	visual perception GO · q=1.07e-7
Cluster 401	5	Blau syndrome, Bronchiolitis obliterans, Granulomatous inflammatory arthritis-dermatitis-uveitis, familial, Intestinal disease, Yao syndrome	positive regulation of interleukin-8 production GO · q=3.82e-5
Cluster 402	5	Au-kline syndrome, menkes disease, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, X-linked distal spinal muscular atrophy, X-linked distal spinal muscular atrophy type 3	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO · q=4.31e-3
Cluster 403	5	Chuvash erythrocytosis, Erythrocytosis due to tissue hypoxemia, Pancreatic cyst, von hippel-lindau disease, Von hippel-lindau syndrome	regulation of G1/S transition of mitotic cell cycle GO · q=2.82e-3
Cluster 404	5	Maple syrup urine disease, maple syrup urine disease type 1A, maple syrup urine disease type 1B, maple syrup urine disease, mild variant, Thiamine-responsive maple syrup urine disease	branched-chain amino acid catabolic process GO · q=4.58e-19
Cluster 405	5	Lymphoproliferative syndrome, severe combined immunodeficiency due to CD70 deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative syndrome	immune response GO · q=6.61e-6
Cluster 406	5	Bruton type agammaglobulinemia, Bruton-type agammaglobulinemia, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked hypogammaglobulinemia	regulation of B cell cytokine production GO · q=3.18e-3
Cluster 407	5	Autosomal dominant sensorineural deafness, Hearing loss with hypertrophic cardiomyopathy, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Renal hypertension, Sebastian syndrome	organic acid metabolic process GO · q=5.43e-4
Cluster 408	5	Cerebral sinovenous thrombosis, Congenital factor ii deficiency, Congenital prothrombin deficiency, Hemophilia b, thrombophilia due to thrombin defect	hemostasis GO · q=2.00e-8
Cluster 409	5	Bartsocas-papas syndrome, bartsocas-papas syndrome 2, Cocoon syndrome, Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency, Curly hair ankyloblepharon nail dysplasia syndrome	positive regulation of NF-kappaB transcription factor activity GO · q=8.30e-4
Cluster 410	5	Bartter disease type 2, Bartter disease type 5, Bartter syndrome, Gitelman syndrome, obsolete antenatal Bartter syndrome	chloride transmembrane transport GO · q=6.94e-9
Cluster 411	5	Basal ganglia disease, Fahr's disease, Idiopathic basal ganglia calcification, Primary familial brain calcification, Striatal neurodegeneration	negative regulation of synaptic transmission, glutamatergic GO · q=1.45e-5
Cluster 412	5	Beta-propeller protein-associated neurodegeneration, familial hemiplegic migraine, Hemiplegic migraine, X-linked cerebral cerebellar coloboma syndrome, X-linked optic atrophy	neuronal action potential propagation GO · q=2.07e-4
Cluster 413	5	Childhood-onset benign chorea with striatal involvement, Conduct disorder, Dyskinesia, limb and orofacial, infantile-onset, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Tooth disease	chemical synaptic transmission GO · q=5.34e-3
Cluster 414	5	Coronary thrombosis, Glycoprotein vi deficiency, platelet-type bleeding disorder 11, platelet-type bleeding disorder 8, Von willebrand disorder	blood coagulation GO · q=3.38e-11
Cluster 415	5	BEST1-related dominant retinopathy, Bestrophinopathy, hemochromatosis type 5, neurodegeneration with brain iron accumulation 9, Vitreoretinochoroidopathy	detection of light stimulus involved in visual perception GO · q=1.32e-6
Cluster 416	5	immunodeficiency due to CD25 deficiency, Interleukin 2 receptor deficiency, Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome, Periprosthetic osteolysis	regulation of T cell tolerance induction GO · q=1.19e-2
Cluster 417	5	Body skin hyperlaxity, Combined deficiency of vitamin k-dependent clotting factors, Coumarin resistance, vitamin K-dependent clotting factors, combined deficiency of, type 1, vitamin K-dependent clotting factors, combined deficiency of, type 2	vitamin K metabolic process GO · q=9.61e-5
Cluster 418	5	Borjeson-forssman-lehmann syndrome, Cerebrofaciothoracic dysplasia, Congenital fusion of ribs, Congenital hypoplasia of penis, Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome	multi-pass transmembrane protein insertion into ER membrane GO · q=1.47e-4
Cluster 419	5	Breast neoplasms , Coloboma, cleft lip-palate and mental retardation syndrome, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development, Uveal coloboma-cleft lip and palate-intellectual disability, Zunich neuroectodermal syndrome	regulation of G2/M transition of mitotic cell cycle GO · q=2.90e-5
Cluster 420	5	Bullous diffuse cutaneous mastocytosis, Mast cell leukemia, Telangiectasia macularis eruptiva perstans, Testicular seminoma, Urticaria pigmentosa	melanocyte adhesion GO · q=1.89e-3
Cluster 421	5	Catel-manzke syndrome, Congenital vertebral-cardiac-renal anomalies syndrome, Vertebral, cardiac, renal, and limb defects syndrome, vertebral, cardiac, renal, and limb defects syndrome 1, vertebral, cardiac, renal, and limb defects syndrome 2	'de novo' NAD+ biosynthetic process from L-tryptophan GO · q=1.78e-7
Cluster 422	5	Charcot-Marie-Tooth disease X-linked dominant 1, Oropharyngeal dysphagia, Spinocerebellar ataxia, x-linked, X-linked non progressive cerebellar ataxia, X-linked progressive cerebellar ataxia	iron-sulfur cluster export from the mitochondrion GO · q=4.31e-3
Cluster 423	5	Childhood-onset epilepsy syndrome, familial sleep-related hypermotor epilepsy, Frontal lobe epilepsy, Intracranial hypertension, Nocturnal frontal lobe epilepsy	Highly calcium permeable nicotinic acetylcholine receptors Pathway · q=4.43e-6
Cluster 424	5	Cognitive impairment with or without cerebellar ataxia, Developmental regression, Focal onset epileptic seizure, Hepatoencephalopathy due to combined oxidative phosphorylation defect, intellectual disability, autosomal dominant 42	Complex I biogenesis Pathway · q=1.14e-4
Cluster 425	5	Pulmonary alveolar proteinosis, Pulmonary surfactant metabolism dysfunction, surfactant metabolism dysfunction, pulmonary, 1, surfactant metabolism dysfunction, pulmonary, 4, surfactant metabolism dysfunction, pulmonary, 5	Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) Pathway · q=1.54e-9
Cluster 426	5	Intestinal pseudo-obstruction, Megacystis microcolon intestinal hypoperistalsis syndrome, Tricuspid valve disease, Visceral myopathy, Visceral neuropathy	Smooth Muscle Contraction Pathway · q=2.06e-7
Cluster 427	5	Glycosylphosphatidylinositol biosynthesis defect, glycosylphosphatidylinositol biosynthesis defect 15, glycosylphosphatidylinositol biosynthesis defect 17, glycosylphosphatidylinositol biosynthesis defect 18, glycosylphosphatidylinositol biosynthesis defect 21	GPI anchor biosynthetic process GO · q=1.50e-14
Cluster 428	5	Congenital folate absorption defect, Hereditary folate malabsorption, Malabsorption syndrome, MECOM-associated syndrome, Pancytopenia	tetrahydrofolate biosynthetic process GO · q=6.25e-4
Cluster 429	5	Congenital methemoglobinemia, Cytochrome-b5 reductase deficiency, Dihydrolipoamide dehydrogenase deficiency, methemoglobinemia due to deficiency of methemoglobin reductase, pyruvate dehydrogenase E3 deficiency	2-oxoglutarate decarboxylation to succinyl-CoA GO · q=3.18e-3
Cluster 430	5	Congenital mirror movements, gaze palsy, familial horizontal, with progressive scoliosis 1, Horizontal gaze palsy with progressive scoliosis, Mirror movements, mirror movements 1 and/or agenesis of the corpus callosum	anterior/posterior axon guidance GO · q=5.25e-5
Cluster 431	5	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Distal renal tubular acidosis, Hereditary xerocytosis, obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis, Xerocytosis	monoatomic ion transport GO · q=9.38e-8
Cluster 432	5	Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency, GPR143-related foveal hypoplasia, hermansky-pudlak syndrome 10, Ocular albinism with sensorineural deafness, X-linked ocular abinism	melanosome organization GO · q=1.28e-4
Cluster 433	5	Reducing body myopathy, Uruguay faciocardio-musculoskeletal syndrome, X-linked emery-dreifuss muscular dystrophy, X-linked myopathy, X-linked scapuloperoneal muscular dystrophy	muscle organ development GO · q=3.25e-3
Cluster 434	5	hypomyelinating leukodystrophy 2, hypomyelinating leukodystrophy 3, Pelizaeus-merzbacher disease, Pelizaeus-Merzbacher spectrum disorder, Spastic paraplegia, x-linked	central nervous system myelination GO · q=6.94e-4

434 clusters, largest first by default. Click a column header to re-sort, or use the search box above to jump straight to a specific disease's cluster.

Disease Clusters?