Disease Clusters | GeDiPNet

Corpus callosum agenesis with intellectual disability, coloboma, micrognathia is in GeDiPNet but isn't part of any cluster ‐ it doesn't share enough genes with a group of 5+ diseases to form one. Its strongest one-to-one links are on Shared-Gene Disease Pairs. View disease details →

4,091 of 5,731 diseases (71%) fall into one of 415 clusters. The remaining 1,640 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	110	Acute disseminated encephalomyelitis, Anti-glomerular basement membrane disease, Anti-neutrophil antibody associated vasculitis, Antiphospholipid syndrome, Aortic arch syndrome and 105 more	Allograft rejection Pathway · q=1.88e-19
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=5.76e-21
Cluster 3	45	Adrenocortical carcinoma, Aplasia and myelodysplasia, Autoinflammation, immune dysregulation, and eosinophilia, B-cell acute lymphoblastic leukemia, B-cell chronic lymphocytic leukemia and 40 more	positive regulation of transcription by RNA polymerase II GO · q=1.87e-24
Cluster 4	44	5-oxoprolinase deficiency, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Atrial flutter, Atrial tachyarrhythmia, infra-hisian cardiac conduction disease and 39 more	regulation of heart rate by cardiac conduction GO · q=3.92e-45
Cluster 5	40	Acantholytic blistering of oral and laryngeal mucosa, amyotrophic lateral sclerosis type 18, Anus neoplasms, Borderline personality disorder, Breast neoplasms and 35 more	Pathways in cancer Pathway · q=5.39e-53
Cluster 6	39	1q44 microdeletion syndrome, Al kaissi syndrome, Al-raqad syndrome, aspartylglucosaminuria, basilicata-akhtar syndrome and 34 more	nervous system development GO · q=4.40e-39
Cluster 7	35	Acyl-coa binding domain containing protein 5 deficiency, Alzahrani-kuwahara syndrome, autosomal recessive optic atrophy, OPA7 type, BBS5-related ciliopathy, CERKL-related retinopathy and 30 more	visual perception GO · q=8.76e-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=5.51e-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=8.75e-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=1.70e-23
Cluster 11	25	Avascular necrosis of femoral head, Beukes hip dysplasia, Chondrosarcoma, COL2A1-related spondyloepiphyseal dysplasia, Collagenopathy and 20 more	positive regulation of transcription by RNA polymerase II GO · q=7.53e-10
Cluster 12	24	Aneurysm, Aortic aneurysm, Bone marrow failure and diabetes mellitus syndrome, Boudin-mortier syndrome, cardiomyopathy, dilated, 2j and 19 more	skeletal system development GO · q=1.34e-23
Cluster 13	24	Amnesia, Amphetamine or sympathomimetic abuse, Bradycardia, Bradyopsia, Catalepsy and 19 more	Neuroactive ligand-receptor interaction Pathway · q=1.60e-39
Cluster 14	24	autosomal recessive limb-girdle muscular dystrophy, Axonal neuropathy with neuromyotonia, Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Eye abnormalities and 19 more	Cytoskeleton in muscle cells Pathway · q=1.88e-19
Cluster 15	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=1.93e-9
Cluster 16	23	Allergic contact dermatitis, Angioedema, Atopic dermatitis, Autoimmune hepatitis, Autoinflammation with episodic fever and immune dysregulation and 18 more	immune response GO · q=3.55e-49
Cluster 17	22	ALG1-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation, COG1-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation and 17 more	N-Glycan biosynthesis Pathway · q=8.66e-46
Cluster 18	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=1.39e-12
Cluster 19	22	Angiocentric glioma, beta-thalassemia HBB/LCRB, Cooleys anemia, Cyanosis, Delta-beta thalassemia and 17 more	carbon dioxide transport GO · q=1.46e-8
Cluster 20	21	Androgenetic alopecia, Breast cancer, C3hex olfactory ability, Cancer, Colorectal adenoma and 16 more	positive regulation of transcription by RNA polymerase II GO · q=1.44e-19
Cluster 21	21	Aica-ribosiduria, Angle closure glaucoma, Avascular necrosis of bone, Axial spondylometaphyseal dysplasia, Chromosome 5q deletion syndrome and 16 more	response to hypoxia GO · q=9.56e-9
Cluster 22	21	amyotrophic lateral sclerosis, susceptibility to, 24, BBS10-related ciliopathy, Craniodiaphyseal dysplasia, Developmental delay with or without epilepsy, dilated cardiomyopathy 1V and 16 more	cilium assembly GO · q=5.83e-33
Cluster 23	20	17q12 microdeletion syndrome, ALG9-associated autosomal dominant polycystic kidney disease, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Bilateral multicystic dysplastic kidney, Giant cell tumor of tendon sheath and 15 more	kidney development GO · q=1.15e-19
Cluster 24	20	17q23.1q23.2 microdeletion syndrome, Amelia, Arthropathy, Bmp4-related ocular growth disorder, Chromosome 17q23.1-q23.2 duplication syndrome and 15 more	embryonic hindlimb morphogenesis GO · q=2.09e-6
Cluster 25	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=6.11e-25
Cluster 26	20	Auditory neuropathy, autosomal dominant nonsyndromic hearing loss, autosomal recessive nonsyndromic hearing loss 102, autosomal recessive nonsyndromic hearing loss 63, Cone rod dystrophy and hearing loss and 15 more	sensory perception of sound GO · q=4.43e-96
Cluster 27	19	Aarskog-scott syndrome, x-linked, Acro-dermo-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, BBS9-related ciliopathy, Bladder exstrophy and 14 more	protein localization to CENP-A containing chromatin GO · q=8.21e-6
Cluster 28	19	Ankylosing spondylitis, Autoinflammatory disease, systemic, with vasculitis, Autoinflammatory-pancytopenia syndrome, Benign flecked retina, Crohn disease and 14 more	inflammatory response GO · q=1.43e-36
Cluster 29	19	Acromelic frontonasal dysostosis, Basal cell carcinoma, Chromosome 20q11-q12 deletion syndrome, Congenital posterior urethral valves, Cutaneous squamous cell carcinoma and 14 more	Pathways in cancer Pathway · q=5.60e-11
Cluster 30	19	Camos syndrome, Congenital nephrotic syndrome, Focal glomerulosclerosis, Focal segmental glomerulosclerosis, focal segmental glomerulosclerosis and neurodevelopmental syndrome and 14 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=2.50e-10
Cluster 31	18	Azoospermia, ciliary dyskinesia, primary, 45, Congenital alpha-fetoprotein deficiency, Congenital impairment of spermatozoa motility, Male infertility and 13 more	spermatogenesis GO · q=5.86e-61
Cluster 32	18	Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Developmental delay, Developmental delay with hypotonia and impaired language, Developmental delay with variable neurological abnormalities and 13 more	Prion disease Pathway · q=3.64e-12
Cluster 33	18	bleeding disorder, platelet-type, 22, Carotid artery thrombosis, Glanzmann thrombasthenia, Hemorrhagic disease, inherited blood coagulation disorder and 13 more	blood coagulation GO · q=3.29e-41
Cluster 34	18	ALG2-congenital disorder of glycosylation, Alstrom syndrome, Ataxia, spastic, autosomal dominant, Congenital myasthenic syndrome, congenital myasthenic syndrome 10 and 13 more	synaptic transmission, cholinergic GO · q=7.15e-10
Cluster 35	17	11p partial monosomy syndrome, Ambiguous genitalia, Angiomatoid fibrous histiocytoma, Aniridia, Autoimmune nervous system disorder and 12 more	positive regulation of DNA-templated transcription GO · q=1.24e-10
Cluster 36	17	Abetalipoproteinemia, Carotid artery disease, Congenital hyperinsulinism, Diabetic ketoacidosis, Fanconi-bickel syndrome and 12 more	Maturity onset diabetes of the young Pathway · q=5.78e-16
Cluster 37	17	Benign prostatic hyperplasia, Budd-chiari syndrome, Cerebral venous sinus thrombosis, Cervical polyp, Congenital factor v deficiency and 12 more	cardiac muscle cell differentiation GO · q=2.06e-4
Cluster 38	16	46, xy disorder of sex development, 46,xx ovotesticular disorder of sex development, 46,xx sex reversal, 46,xy gonadal dysgenesis, 46,xy partial gonadal dysgenesis and 11 more	positive regulation of male gonad development GO · q=5.88e-15
Cluster 39	16	Autoimmune disease, Autoimmune thyroid disease, Autoinflammation with pulmonary and cutaneous vasculitis, Celiac disease, Charcot-Marie-Tooth disease, demyelinating, type 1J and 11 more	immune response GO · q=2.66e-41
Cluster 40	16	Anastomosing haemangioma, Aplasia cutis congenita with epibulbar dermoids, Arteriovenous malformations, Capillary malformation, Capillary malformation-arteriovenous malformation and 11 more	GnRH secretion Pathway · q=3.62e-6
Cluster 41	16	Adenomatous polyposis, Brain tumor-polyposis syndrome, Cenani-lenz syndrome, Colorectal adenomatous polyposis, Desmoid tumor and 11 more	Pathways in cancer Pathway · q=6.53e-10
Cluster 42	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=3.71e-14
Cluster 43	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=1.82e-26
Cluster 44	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=2.37e-6
Cluster 45	16	CACNA2D4-related retinopathy, Central areolar choroidal dystrophy, Choroidal dystrophy, Choroidal sclerosis, Choroideremia and 11 more	visual perception GO · q=1.05e-16
Cluster 46	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=3.73e-20
Cluster 47	15	Absence epilepsy, Ataxia, Childhood absence epilepsy, Conn syndrome, Cranio-cervical dystonia and 10 more	monoatomic ion transmembrane transport GO · q=7.46e-23
Cluster 48	15	Apert syndrome, Cataract-intellectual disability-hypogonadism syndrome, Congenital malformation syndromes predominantly affecting facial appearance, Corpus callosum agenesis with facial anomalies and cerebellar ataxia, Craniofacial microsomia and 10 more	PI3K Cascade Pathway · q=2.74e-5
Cluster 49	15	Alport syndrome, Alport syndrome, x-linked, Collagen vi-related myopathy, Diaphragm disease, Diffuse mesangial sclerosis and 10 more	NCAM1 interactions Pathway · q=4.83e-9
Cluster 50	15	Acyl-coa dehydrogenase 9 deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Codas syndrome, Combined oxidative phosphorylation deficiency, Cytochrome c oxidase deficiency and 10 more	Respiratory electron transport Pathway · q=6.65e-71
Cluster 51	15	adult neuronal ceroid lipofuscinosis, Congenital neck anomaly, Congenital nemaline myopathy, Deglutition disorder, Distal nebulin myopathy and 10 more	lysosome organization GO · q=3.52e-8
Cluster 52	15	Acromesomelic dysplasia, Arthrogryposis-renal dysfunction-cholestasis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Congenital pectus carinatum, Congenital scoliosis and 10 more	Defective B3GALTL causes Peters-plus syndrome (PpS) Pathway · q=1.96e-6
Cluster 53	15	Amegakaryocytic thrombocytopenia, Clonal hematopoiesis, Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, hypotaurinemic retinal degeneration and cardiomyopathy and 10 more	Pathways in cancer Pathway · q=1.41e-30
Cluster 54	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=4.13e-8
Cluster 55	15	Blood coagulation disorder, Cerebral hemorrhage, Disseminated intravascular coagulation, Fetal erythroblastosis, Hemophilia a and 10 more	blood coagulation GO · q=5.78e-47
Cluster 56	15	Anophthalmia, Anophthalmia/microphthalmia-esophageal atresia syndrome, Colobomatous microphthalmia, colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous optic disc macular atrophy chorioretinopathy syndrome and 10 more	camera-type eye development GO · q=1.66e-20
Cluster 57	15	Antisocial personality disorder, Brunner syndrome, Colchicine resistance, Conduct disorder, Congenital brain dysgenesis due to glutamine synthetase deficiency and 10 more	positive regulation of apoptotic process GO · q=1.74e-6
Cluster 58	15	Cerebellar atrophy with seizures and variable developmental delay, Childhood-onset glut1 deficiency syndrome 2, complex neurodevelopmental disorder with motor features, East syndrome, Episodic kinesigenic dyskinesia and 10 more	synaptic vesicle maturation GO · q=1.79e-3
Cluster 59	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=1.41e-4
Cluster 60	15	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 10 more	atrioventricular canal development GO · q=1.10e-4
Cluster 61	14	Angelman syndrome, Autism, x-linked, Benign paroxysmal torticollis of infancy, Bruxism, Bulbar palsy and 9 more	chemical synaptic transmission GO · q=5.30e-6
Cluster 62	14	Cardiac valvular dysplasia, Conductive hearing loss, Congenital idiopathic intestinal pseudoobstruction, Congenital short bowel syndrome, Dysgenesis of corpus callosum and 9 more	collagen fibril organization GO · q=9.92e-4
Cluster 63	14	Catifa syndrome, Cleft lip, Cleft lip and palate, Cleft palate, Complete unilateral cleft lip and 9 more	odontogenesis of dentin-containing tooth GO · q=7.20e-15
Cluster 64	14	Aplastic anemia, Cataract-multisystem syndrome, Dkc1-related disorder, Dyskeratosis congenita, dyskeratosis congenita and related telomere biology disorder and 9 more	Telomere Extension By Telomerase Pathway · q=1.49e-17
Cluster 65	14	arrhythmogenic right ventricular dysplasia 5, Congenital small ears, dilated cardiomyopathy 1A, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Emery-dreifuss muscular dystrophy and 9 more	Cytoskeleton in muscle cells Pathway · q=2.88e-5
Cluster 66	13	Aortic dissection, Aortic rupture, Arterial tortuosity syndrome, Atypical femoral fracture, Cutaneous polyarteritis nodosa and 8 more	elastic fiber assembly GO · q=1.55e-7
Cluster 67	13	Biliary tract cancer, Cardiofacio-neurodevelopmental syndrome, Cervical cancer, Endometrial cancer, Endometrial neoplasms and 8 more	cell division GO · q=8.15e-17
Cluster 68	13	Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Craniotubular dysplasia, Desbuquois syndrome, ehlers-danlos syndrome, spondylodysplastic type, 1 and 8 more	skeletal system development GO · q=1.19e-56
Cluster 69	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=6.19e-6
Cluster 70	13	CEP290-related ciliopathy, Congenital kidney anomaly, Encephalocele, Focal cortical dysplasia, joubert syndrome 17 and 8 more	negative regulation of TORC1 signaling GO · q=1.34e-6
Cluster 71	13	Berardinelli-seip congenital lipodystrophy, Carotid intima-media thickness, Central nervous system malformation, Congenital generalized lipodystrophy, Epithelial ovarian carcinoma and 8 more	Apoptosis Pathway · q=6.31e-5
Cluster 72	13	Alpha thalassemia, Chloracne, erythrocytosis, familial, 7, HBA1-related alpha thalassemia spectrum, HBA2-related alpha thalassemia spectrum and 8 more	carbon dioxide transport GO · q=2.19e-8
Cluster 73	13	Body weight, Diabetes mellitus, Diabetic eye disease, Diabetic nephropathy type 2, Diabetic neuropathy and 8 more	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction GO · q=2.91e-11
Cluster 74	13	Aniridia-cerebellar ataxia-intellectual disability syndrome, Auriculocondylar syndrome, Bilateral congenital mydriasis, Cataract-corneal dystrophy syndrome, Ehlers-Danlos syndrome, spondylocheirodysplastic type and 8 more	animal organ morphogenesis GO · q=1.44e-5
Cluster 75	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=8.27e-6
Cluster 76	12	Alcoholic hepatitis, ALG11-congenital disorder of glycosylation, Angina pectoris, Autoimmune uveitis, Cachexia and 7 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=1.47e-13
Cluster 77	12	17q11 microdeletion syndrome, 17q11.2 microduplication syndrome, Cafe-au-lait spots, Cervical lymphadenopathy, Embryonal nuclear cataract and 7 more	regulation of cell population proliferation GO · q=4.95e-6
Cluster 78	12	Atrial fibrillation, band heterotopia of brain, Cardiovascular disease, Coronary artery disease, Endometriosis and 7 more	positive regulation of transcription by RNA polymerase II GO · q=2.74e-24
Cluster 79	12	3m syndrome, autosomal recessive cerebellar ataxia, Cayman type cerebellar ataxia, Cerebellar ataxia, Spastic ataxia and 7 more	Spinocerebellar ataxia Pathway · q=9.17e-13
Cluster 80	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=8.51e-10
Cluster 81	12	Aromatic l-amino-acid decarboxylase deficiency, Carcinoid syndrome, Carney complex, Carney-stratakis syndrome, Cowden disease and 7 more	mitochondrial electron transport, succinate to ubiquinone GO · q=1.61e-11
Cluster 82	12	Acromegaly, Ateleiotic dwarfism, Chromosome xq26.3 duplication syndrome, Congenital isolated growth hormone deficiency, Growth hormone-secreting pituitary adenoma and 7 more	Hormone signaling Pathway · q=5.65e-8
Cluster 83	12	Adenosine kinase deficiency, Amino acid metabolism disorder, Cystathioninuria, Glycine n-methyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency and 7 more	Metabolic pathways Pathway · q=1.11e-8
Cluster 84	12	Aland island eye disease, CACNA1F-related retinopathy, Ciliary dyskinesia with retinitis pigmentosa, Cone-rod dystrophy, x-linked, Cone-rod synaptic disorder and 7 more	bone trabecula morphogenesis GO · q=1.25e-3
Cluster 85	12	Ankylosis, Antley-bixler syndrome, Beare-stevenson cutis gyrata syndrome, Biliary tract neoplasms, Cardiofacial dysplasia and 7 more	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO · q=2.76e-5
Cluster 86	12	Amish brittle hair brain syndrome, Cerebrooculofacioskeletal syndrome, Trichorrhexis nodosa syndrome, Trichothiodystrophy, Xeroderma pigmentosum and 7 more	Nucleotide excision repair Pathway · q=3.13e-17
Cluster 87	12	anemia, nonspherocytic hemolytic, due to G6PD deficiency, Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema, Autoinflammatory disease, systemic, x-linked, Bloch sulzberger syndrome, Congenital nonspherocytic hemolytic anemia and 7 more	Cross-presentation of particulate exogenous antigens (phagosomes) Pathway · q=5.28e-10
Cluster 88	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=2.47e-12
Cluster 89	12	Asymmetric septal hypertrophy, Biventricular noncompaction cardiomyopathy, Camptocormia, Coronary stenosis, dilated cardiomyopathy 1S and 7 more	cardiac muscle contraction GO · q=1.48e-8
Cluster 90	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=9.55e-4
Cluster 91	12	Ataxia-hypogonadism-choroidal dystrophy syndrome, Beta-sarcoglycanopathy, Boucher-neuhauser syndrome, Brainstem atrophy, Cerebellar ataxia and hypogonadotropic hypogonadism and 7 more	N-glycan processing to lysosome GO · q=1.84e-5
Cluster 92	12	Bilateral microphthalmos, Carnitine acetyltransferase deficiency, Erythrokeratodermia variabilis, Greither disease, Hallermanns syndrome and 7 more	intracellular iron ion homeostasis GO · q=3.39e-4
Cluster 93	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=7.61e-4
Cluster 94	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=2.38e-4
Cluster 95	11	Bronchiectasis, congenital disorder of glycosylation, type 2v, Juvenile hyperuricemic nephropathy, Liddle syndrome, Malignant hypertension and 6 more	regulation of blood pressure GO · q=3.65e-10
Cluster 96	11	22q11 deletion syndrome, ciliary dyskinesia, primary, 46, Congenital heart malformation, Gastrointestinal stromal tumor, Holoprosencephaly and 6 more	smoothened signaling pathway GO · q=4.45e-40
Cluster 97	11	Bulimia, Childhood myocerebrohepatopathy spectrum, Dysphonia, fanconi anemia complementation group i, Intermittent explosive disorder and 6 more	mitochondrial DNA replication GO · q=1.92e-8
Cluster 98	11	Bone mineral density quantitative trait locus, Camurati-engelmann syndrome, LRP5-related exudative vitreoretinopathy, Osteopetrosis and infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration and 6 more	Negative regulation of TCF-dependent signaling by WNT ligand antagonists Pathway · q=5.61e-4
Cluster 99	11	Agat deficiency, Arginine-glycine amidinotransferase deficiency, Bifunctional enzyme deficiency, Carnitine palmitoyltransferase deficiency, D-bifunctional protein deficiency and 6 more	fatty acid beta-oxidation GO · q=6.95e-8
Cluster 100	11	Developmental delay with dysmorphic facies and brain anomalies, Hypomyelinating leukodystrophy, hypomyelinating leukodystrophy 5, hypomyelinating leukodystrophy 9, Leukodystrophy and 6 more	Cytosolic tRNA aminoacylation Pathway · q=4.86e-8
Cluster 101	11	Cerebellar-facial-dental syndrome, Congenital microcephaly, Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome, microcephalic osteodysplastic primordial dwarfism type II, Microcephaly and 6 more	cell division GO · q=2.59e-15
Cluster 102	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=3.09e-11
Cluster 103	11	amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Biotinidase deficiency, Childhood-onset basal ganglia degeneration syndrome, Cryptorchidism and 6 more	response to testosterone GO · q=5.97e-5
Cluster 104	11	Bowen’s disease, Cecal neoplasms, Craniopharyngioma, CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, Hepatoblastoma and 6 more	Colorectal cancer Pathway · q=1.15e-11
Cluster 105	11	Anemia, Bisphosphoglycerate mutase deficiency, Charcot-Marie-Tooth disease type 4B2, Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome, Coronary vessel anomalies and 6 more	multicellular organismal-level iron ion homeostasis GO · q=4.22e-14
Cluster 106	11	Bombay phenotype, Deficiency anemia, Imerslund-grasbeck syndrome, Megaloblastic anemia, methylmalonic acidemia due to transcobalamin receptor defect and 6 more	Cobalamin (Cbl, vitamin B12) transport and metabolism Pathway · q=2.68e-13
Cluster 107	11	Atypical hemolytic uremic syndrome, Central serous retinopathy, Choroid diseases, Doyne honeycomb retinal dystrophy, Factor h deficiency and 6 more	regulation of complement-dependent cytotoxicity GO · q=1.17e-3
Cluster 108	11	autosomal recessive osteopetrosis 5, autosomal recessive osteopetrosis 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 and 6 more	osteoclast differentiation GO · q=9.59e-11
Cluster 109	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=1.58e-2
Cluster 110	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=1.04e-12
Cluster 111	10	Chromosome 15q deletion syndrome, Congenital heart defects, Congenital heart disease, Conotruncal cardiac defect, Craniofacial abnormalities and 5 more	heart development GO · q=3.89e-47
Cluster 112	10	22q13 monosomy syndrome, 22q13.3 deletion syndrome, Dopa-responsive dystonia, Dystonia, dopa-responsive, with or without hyperphenylalaninemia, GTP cyclohydrolase I deficiency and 5 more	positive regulation of nitric-oxide synthase activity GO · q=1.22e-4
Cluster 113	10	Congenitally uncorrected transposition of the great arteries, Discordant ventriculoarterial connection, Double outlet right ventricle, Down syndrome, immunodeficiency 114, folate-responsive and 5 more	heart development GO · q=6.80e-5
Cluster 114	10	Brain injuries, Brain ischemia, Colitis, Developmental delay with overweight and facial dysmorphism, inflammatory skin and bowel disease, neonatal, 1 and 5 more	inflammatory response GO · q=5.83e-33
Cluster 115	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=3.47e-4
Cluster 116	10	Abeta amyloidosis, Acne inversa, Amyloid angiopathy, Amyloid neuropathy, cerebral amyloid angiopathy, app-related and 5 more	Notch signaling pathway GO · q=3.99e-9
Cluster 117	10	Absence of fingerprints-congenital milia syndrome, Anhidrotic ectodermal dysplasia, Christ-siemens-touraine syndrome, Craniofrontonasal dysplasia, Ectodermal dysplasia and 5 more	epidermis development GO · q=5.60e-7
Cluster 118	10	Alexander disease, Combined psap deficiency, Combined saposin deficiency, Gaucher disease, Gaucher disease due to saposin C deficiency and 5 more	sensory perception of light stimulus GO · q=3.67e-14
Cluster 119	10	Bronchopulmonary dysplasia, Chronic obstructive pulmonary disease, Cystic fibrosis, Emphysema, Genetic generalized epilepsy and 5 more	inflammatory response GO · q=1.31e-23
Cluster 120	10	Atypical teratoid rhabdoid tumor, Carotid atherosclerosis, Coffin-siris syndrome, hereditary nonpolyposis colon cancer, Rhabdoid tumor and 5 more	regulation of G0 to G1 transition GO · q=4.69e-19
Cluster 121	10	Advanced sleep phase syndrome, Anencephaly, Aprosencephaly, Hematologic disease, Homocystinuria with megaloblastic anemia and 5 more	homocysteine metabolic process GO · q=7.87e-7
Cluster 122	10	Alpha thalassemia x-linked intellectual disability, Atr-x syndrome, Intellectual developmental disorder hypotonic x-linked, non-syndromic X-linked intellectual disability, Penile disease and 5 more	response to inositol GO · q=6.24e-4
Cluster 123	10	Arterial occlusive disease, Asthenozoospermia, Brain edema, Cardiac injury, Cholesterol embolism and 5 more	response to hypoxia GO · q=5.39e-5
Cluster 124	10	Anaplasia, Choreoathetosis, Chromosome 17q23.1-q23.2 deletion syndrome, Cryohydrocytosis, Ductal carcinoma and 5 more	Central carbon metabolism in cancer Pathway · q=4.33e-7
Cluster 125	10	Anemia, x-linked, Congenital erythropoietic porphyria, Cutaneous porphyria, Dyserythropoietic anemia with abnormal platelets and neutropenia, GATA1-Related X-Linked Cytopenia and 5 more	heme B biosynthetic process GO · q=7.46e-23
Cluster 126	10	Angiofollicular ganglionic hyperplasia, Angiolymphoid hyperplasia, Castleman disease, Congenital microtia, Endometrioid carcinoma and 5 more	Malaria Pathway · q=1.05e-5
Cluster 127	10	Binocular vision disease, Brachycephaly, Coronal craniosynostosis, duane retraction syndrome 2, Extraskeletal myxoid chondrosarcoma and 5 more	Wnt signaling pathway GO · q=1.10e-6
Cluster 128	10	arterial calcification, generalized, of infancy, 1, Cole disease, Coronary medial sclerosis of infancy, Crystal arthropathy, Desbuquois dysplasia and 5 more	proteoglycan biosynthetic process GO · q=4.38e-7
Cluster 129	10	Atrial standstill, Cardiac rhythm disease, dilated cardiomyopathy 1E, Ectopic rhythm, Hypercapnia and 5 more	regulation of heart rate by cardiac conduction GO · q=4.18e-8
Cluster 130	10	Bone marrow diseases, Cerebellar diseases, Differentiated thyroid carcinoma, dyskeratosis congenita, autosomal dominant 3, Hurthle cell thyroid cancer and 5 more	Thyroid cancer Pathway · q=6.70e-15
Cluster 131	10	Blast crisis, Bloom syndrome, Chromosome 22q11.2 microdeletion syndrome, Hodgkin disease, Hyper-igm immunodeficiency syndrome and 5 more	Primary immunodeficiency Pathway · q=2.58e-8
Cluster 132	10	BARD1-related cancer predisposition, Fanconi anemia, fanconi anemia complementation group f, fanconi anemia complementation group p, Fanconi anemia complementation group U and 5 more	DNA repair GO · q=1.30e-50
Cluster 133	10	Cerebelloparenchymal disorder, Lactic acidosis, Male infertility large polyploid spermatozoa, Normal pressure hydrocephalus, primary ciliary dyskinesia and 5 more	cilium movement involved in cell motility GO · q=3.17e-8
Cluster 134	9	Mucopolysaccharidosis, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 3B, mucopolysaccharidosis type 3C, mucopolysaccharidosis type 3D and 4 more	Glycosaminoglycan degradation Pathway · q=5.72e-24
Cluster 135	9	Beta thalassemia, Digenic hemochromatosis, Hemochromatosis, hemochromatosis type 2A, hemochromatosis type 2B and 4 more	intracellular iron ion homeostasis GO · q=8.35e-24
Cluster 136	9	Adenosine deaminase 2 deficiency, Cardiovascular abnormalities, Deafness-lymphedema-leukemia syndrome, Gata2 deficiency, nephronophthisis 16 and 4 more	heart development GO · q=1.77e-7
Cluster 137	9	ciliary dyskinesia, primary, 41, immunodeficiency 104, immunodeficiency, common variable, 12, Intellectual developmental disorder dysmorphic macrocephaly, Nasal disorder and 4 more	Inflammatory bowel disease Pathway · q=3.85e-11
Cluster 138	9	A4GALT-congenital disorder of glycosylation, Caffey disease, Cholangitis, COL1A1-related Ehlers-Danlos syndrome, Combined osteogenesis imperfecta and ehlers-danlos syndrome and 4 more	positive regulation of miRNA transcription GO · q=1.91e-5
Cluster 139	9	Heart disease, Ischemic heart disease, Kidney disease, Kidney failure, Large artery stroke and 4 more	positive regulation of gene expression GO · q=1.06e-21
Cluster 140	9	Ataxia with vitamin e deficiency, Binge eating disorder, Congenital stenosis of aortic valve, hypercholesterolemia, autosomal dominant, 3, hypercholesterolemia, autosomal dominant, type B and 4 more	cholesterol metabolic process GO · q=1.81e-7
Cluster 141	9	Anovulation, Apolipoprotein c-ii deficiency, Arteriosclerosis, Congenital disorder of deglycosylation, Corneal injury and 4 more	cholesterol homeostasis GO · q=6.51e-29
Cluster 142	9	Acrocallosal syndrome, Cronkhite-canada syndrome, greig cephalopolysyndactyly syndrome, Hydrolethalus syndrome, Intellectual developmental disorder microcephaly strabismus behaviora and 4 more	smoothened signaling pathway involved in ventral spinal cord interneuron specification GO · q=5.71e-5
Cluster 143	9	Conjunctival disease, Disorder of sex development, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, Gallbladder neoplasms, Hyperplasia and 4 more	Pathways in cancer Pathway · q=9.49e-11
Cluster 144	9	Branchial arch abnormalities syndrome, Branchial cleft anomalies, Burn-mckeown syndrome, Choanal atresia syndrome, Duane-radial ray syndrome and 4 more	right ventricular compact myocardium morphogenesis GO · q=1.23e-2
Cluster 145	9	Asymmetric crying face association, Bor syndrome, Branchiooculofacial syndrome, Branchiootic syndrome, Branchiootorenal syndrome and 4 more	positive regulation of secondary heart field cardioblast proliferation GO · q=1.86e-4
Cluster 146	9	Breast fibrocystic disease, Congenital hernia of foramen of bochdalek, Eyelid disease, Inflammatory demyelinating polyneuropathy, Neuropathy and 4 more	ureteric bud development GO · q=1.29e-4
Cluster 147	9	Anorexia, Congestive ophthalmopathy, Graft-versus-host disease, Granulomatosis with polyangiitis, Graves ophthalmopathy and 4 more	immune response GO · q=3.46e-23
Cluster 148	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=3.01e-23
Cluster 149	9	Afibrinogenemia, Congenital afibrinogenemia, Congenital fibrinogen deficiency, Congenital hypofibrinogenemia, Cor pulmonale and 4 more	hemostasis GO · q=1.66e-20
Cluster 150	9	Aicardi goutieres syndrome, Cadasil, Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency and 4 more	mismatch repair GO · q=2.09e-6
Cluster 151	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=7.24e-32
Cluster 152	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 153	9	Aminoaciduria, Endocrine system disease, Hepatic insufficiency, Hepatomegaly, multiple congenital anomalies-hypotonia-seizures syndrome 1 and 4 more	Pathways in cancer Pathway · q=1.12e-13
Cluster 154	9	Cerebral microangiopathy, COL4A1-related disorder, Colpocephaly, Dementia in huntington’s disease, Familial hematuria-retinal arteriolar tortuosity-contractures syndrome and 4 more	response to copper ion GO · q=2.82e-3
Cluster 155	9	Congenital leukocyte adherence deficiency, Conjunctivitis, Developmental delay with autism spectrum disorder, FAS-related autoimmune lymphoproliferative immune disorder, hypoplasminogenemia and 4 more	cell adhesion GO · q=1.11e-3
Cluster 156	9	Anhedonia, Asperger syndrome, Behavior disorders, Dysthymic disorder, Early-onset obesity-hyperphagia-severe developmental delay syndrome and 4 more	cAMP signaling pathway Pathway · q=2.32e-6
Cluster 157	9	Anhydramnios, autosomal recessive polycystic kidney disease, Biliary-renal-neuro-skeletal syndrome, Caroli disease, Congenital hypoplasia of aortic arch and 4 more	kidney development GO · q=1.34e-10
Cluster 158	9	Bile duct disease, Bronchopneumonia, Creutzfeldt-jakob disease, Erythropoietic protoporphyria, Sideroblastic anemia and 4 more	iron-sulfur cluster assembly GO · q=5.12e-5
Cluster 159	9	Anodontia, craniofacial dysplasia - osteopenia syndrome, Early-onset epilepsy-intellectual disability-brain anomalies syndrome, Severe neonatal spondylometaphyseal dysplasia, Shwachman-diamond syndrome and 4 more	cytosolic ribosome assembly GO · q=9.48e-7
Cluster 160	9	Anonychia, Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome, Dystrophic epidermolysis bullosa and 4 more	morphogenesis of an epithelium GO · q=3.00e-5
Cluster 161	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=9.61e-6
Cluster 162	9	Erythematosquamous dermatosis, Ichthyosis vulgaris, intellectual developmental disorder 59, nephrotic syndrome 14, netherton syndrome and 4 more	melanin biosynthetic process from tyrosine GO · q=9.79e-5
Cluster 163	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=1.77e-2
Cluster 164	9	Chronic pain, Congenital insensitivity to pain, Congenital pain insensitivity, Episodic pain syndrome, Erythromelalgia and 4 more	sensory perception of pain GO · q=2.73e-9
Cluster 165	9	Benign infantile epilepsy, Benign neonatal epilepsy, Benign neonatal-infantile seizures, Cognitive impairment with or without cerebellar ataxia, Hemiplegia and 4 more	monoatomic ion transport GO · q=1.22e-4
Cluster 166	9	ciliary dyskinesia, primary, 47, and lissencephaly, Constitutional mismatch repair deficiency, Cystic leukoencephalopathy, Intellectual developmental disorder dysmorphic behavioral, Lynch syndrome and 4 more	mismatch repair GO · q=2.06e-16
Cluster 167	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=3.32e-4
Cluster 168	9	Carbamoyl phosphate synthetase deficiency, Congenital facial anomaly, Congenital hyperammonemia, Congenital hypoplastic anemia, developmental and epileptic encephalopathy, 50 and 4 more	'de novo' pyrimidine nucleobase biosynthetic process GO · q=9.12e-10
Cluster 169	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=5.80e-7
Cluster 170	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=2.20e-13
Cluster 171	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=2.95e-18
Cluster 172	9	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 4 more	oxalate transport GO · q=2.46e-3
Cluster 173	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 174	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=4.99e-22
Cluster 175	8	12q14 microdeletion syndrome, Buschke-ollendorff syndrome, Cerebellar vermis atrophy, Cerebral arteriovenous malformations, Dermatofibrosis lenticularis disseminata and 3 more	positive regulation of peptidyl-serine phosphorylation GO · q=2.65e-6
Cluster 176	8	15q11.2 microdeletion syndrome, Complex cortical dysplasia with other brain malformations, Congenital fibrosis of extraocular muscles, Cortical development malformation, Cortical dysplasia with other brain malformations and 3 more	microtubule cytoskeleton organization GO · q=1.38e-13
Cluster 177	8	Avoidant restrictive food intake disorder, Bile duct calculus, Cavitary optic disc anomalies, Cavitary optic disk anomaly, Delayed sleep phase syndrome and 3 more	circadian rhythm GO · q=7.90e-7
Cluster 178	8	3-hydroxyisobutyric aciduria, Bladder calculus, Dalmatian hypouricemia, Hyperuricemia, Nephrolithiasis and 3 more	urate metabolic process GO · q=3.96e-6
Cluster 179	8	Chromosome 2p16.3 deletion syndrome, Cortical dysplasia-focal epilepsy syndrome, Dyslexia, holocarboxylase synthetase deficiency, Internet addiction disorder and 3 more	vocal learning GO · q=6.13e-7
Cluster 180	8	Berylliosis, Cervical disc degenerative disorder, Gouty arthritis, Intervertebral disc disease, Mak-related retinopathy and 3 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=2.72e-12
Cluster 181	8	Activated pi3k-delta syndrome, Agammaglobulinemia, autosomal agammaglobulinemia, Burkitt lymphoma, Combined immunodeficiency with facio-oculo-skeletal anomalies and 3 more	B cell differentiation GO · q=2.36e-8
Cluster 182	8	Amyloid polyneuropathy, Dystransthyretinemic euthyroidal hyperthyroxinemia, Hyperthyroxinemia, obsolete hereditary ATTR amyloidosis, Senile systemic amyloidosis and 3 more	HDL remodeling Pathway · q=2.41e-4
Cluster 183	8	Achondrogenesis, Atelosteogenesis, De la chapelle dysplasia, Diastrophic dysplasia, Diastrophic dysplasia, broad bone-platyspondylic variant and 3 more	chondrocyte differentiation GO · q=2.20e-3
Cluster 184	8	Achondroplasia, Camptodactyly, tall stature, and hearing loss syndrome, Catshl syndrome, Crouzon syndrome with acanthosis nigricans, hypochondroplasia and 3 more	negative regulation of developmental growth GO · q=1.96e-3
Cluster 185	8	Bnar syndrome, Craniofaciosynostosis, Encephalocraniocutaneous lipomatosis, Eosinophilic leukemia, Hartsfield-Bixler-Demyer syndrome and 3 more	Central carbon metabolism in cancer Pathway · q=9.32e-6
Cluster 186	8	ACTB-associated syndromic thrombocytopenia, Aminoacylase deficiency, Baraitser-winter cerebrofrontofacial syndrome, Becker nevus syndrome, Congenital smooth muscle hamartoma and 3 more	regulation of transepithelial transport GO · q=8.18e-5
Cluster 187	8	ADAM9-related retinopathy, Age-related macular degeneration, Atrophic macular degeneration, Macular and posterior pole degeneration, Macular degeneration and 3 more	visual perception GO · q=2.01e-16
Cluster 188	8	aortic valve disease 3, Bicuspid aortic valve, Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation, Chromosome 6q24-q25 deletion syndrome, congenital heart defects, multiple types, 2 and 3 more	aortic valve morphogenesis GO · q=5.53e-6
Cluster 189	8	Bjornstad syndrome, Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital myopathy, Congenital structural myopathy and 3 more	Cytoskeleton in muscle cells Pathway · q=1.40e-18
Cluster 190	8	Alpha-methylacyl-coa racemase deficiency, Bilateral vestibulopathy, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia, Cerebellar ataxia, neuropathy, and vestibular areflexia, Charcot-Marie-Tooth disease type 4 and 3 more	EGR2 and SOX10-mediated initiation of Schwann cell myelination Pathway · q=1.33e-7
Cluster 191	8	Atrial and intestinal dysrhythmia, Chronobiology disorder, Congenital nystagmus, Hyperoxia, Patent ductus venosus and 3 more	Neuroactive ligand-receptor interaction Pathway · q=2.92e-5
Cluster 192	8	Anaphylaxis, Autoinflammation, antibody deficiency, and immune dysregulation, Autosomal dominant sensorineural deafness, Cinca syndrome, Cold autoinflammatory syndrome and 3 more	positive regulation of interleukin-1 beta production GO · q=1.36e-3
Cluster 193	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=5.09e-6
Cluster 194	8	Atrophoderma vermiculata, Burnett schwartz berberian syndrome, Common migraine, Developmental dysplasia of the hip, hypercholesterolemia, familial, 1 and 3 more	positive regulation of lysosomal protein catabolic process GO · q=8.22e-4
Cluster 195	8	Carotid artery stenosis, Coronary restenosis, Fabry disease, krabbe disease, Mitral valve disease and 3 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=9.87e-7
Cluster 196	8	hemochromatosis type 1, Hepatic veno occlusive disease, Hepatoerythropoietic porphyria, Mucositis, Polymyalgia rheumatica and 3 more	protoporphyrinogen IX biosynthetic process GO · q=4.96e-8
Cluster 197	8	Anorectal malformation, Antithrombin deficiency, Bronchiolitis, Craniocerebral trauma, Diffuse panbronchiolitis and 3 more	dendritic cell differentiation GO · q=4.08e-3
Cluster 198	8	Brain small vessel disease, Cerebral palsy, Cerebral small vessel disease, Congenital porencephaly, Ectopic thyroid tissue and 3 more	cardiac myofibril assembly GO · q=6.57e-4
Cluster 199	8	Beckwith-wiedemann syndrome, Childhood apraxia of speech, Chorioretinal atrophy, Chromosomal disorder, Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome and 3 more	insulin-like growth factor receptor signaling pathway GO · q=1.05e-5
Cluster 200	8	Blepharophimosis syndrome, Blepharophimosis-intellectual disability syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome, KAT6B-related multiple congenital anomalies syndrome, MED12-related intellectual disability syndrome and 3 more	Defective EXT2 causes exostoses 2 Pathway · q=1.00e-3
Cluster 201	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=1.47e-6
Cluster 202	8	Arthrogryposis, childhood-onset nemaline myopathy, Congenital finger flexion contractures, Digitotalar dysmorphism, Distal arthrogryposis and 3 more	Striated Muscle Contraction Pathway · q=7.05e-13
Cluster 203	8	Arthrogryposis with oculomotor limitation and retinal anomalies, Commissural facial cleft, Duplication of pituitary gland, Gorlin syndrome, nevoid basal cell carcinoma syndrome and 3 more	cell fate determination GO · q=8.26e-6
Cluster 204	8	Ataxia with intention tremor and hypotonia, Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cervical dysplasia, Congenital plasminogen activator inhibitor deficiency type 1, homocystinuria due to methylene tetrahydrofolate reductase deficiency and 3 more	heterochromatin organization GO · q=5.10e-4
Cluster 205	8	Atrophy, Copper overload cirrhosis, Dicarboxylic aminoaciduria, hyper-IgE recurrent infection syndrome 1, autosomal dominant, Hyper-ige syndrome and 3 more	Proteoglycans in cancer Pathway · q=6.47e-9
Cluster 206	8	autosomal dominant slowed nerve conduction velocity, Benign fasciculation-cramp syndrome, Bronchial hyperreactivity, Charcot-Marie-Tooth disease axonal type 2F, Cramp-fasciculation syndrome and 3 more	antimicrobial humoral immune response mediated by antimicrobial peptide GO · q=4.00e-7
Cluster 207	8	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 3 more	late endosome to vacuole transport via multivesicular body sorting pathway GO · q=9.77e-3
Cluster 208	8	Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, Calcium metabolism disorders, Calcium pyrophosphate deposition, Chondrocalcinosis and 3 more	skeletal system development GO · q=2.70e-3
Cluster 209	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=5.68e-8
Cluster 210	8	Clouston syndrome, Deafness, x-linked, Hearing loss with stapes fixation, ichthyosiform erythroderma, corneal involvement, and hearing loss, Keratitis-ichthyosis-deafness syndrome and 3 more	gap junction-mediated intercellular transport GO · q=2.95e-4
Cluster 211	8	B3GALT6-congenital disorder of glycosylation, Hoxha-aliu syndrome, Short stature spectrum, Spondyloepimetaphyseal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity, type 3 and 3 more	ECM proteoglycans Pathway · q=2.90e-5
Cluster 212	8	Basal cell nevus syndrome, Bifid nose, Cleft face, Culler-jones syndrome, Desanto-shinawi syndrome and 3 more	spinal cord dorsal/ventral patterning GO · q=3.58e-6
Cluster 213	8	Becker muscular dystrophy, Benign congenital myopathy, Duchenne muscular dystrophy, Dystrophinopathy, hereditary leiomyomatosis and renal cell cancer and 3 more	Dilated cardiomyopathy Pathway · q=6.60e-4
Cluster 214	8	Blue cone monochromatism, Cone dystrophy, x-linked, Cone monochromatism, Deuteranomaly, red color blindness and 3 more	absorption of visible light GO · q=9.46e-12
Cluster 215	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=3.43e-4
Cluster 216	8	Dacryocystitis, ectodermal dysplasia and immunodeficiency 2, Exanthema, Interleukin 1 receptor antagonist deficiency, Majeed syndrome and 3 more	Alcoholic liver disease Pathway · q=1.68e-4
Cluster 217	8	Caveolinopathy, Chromosome 3p25 monosomy, combined immunodeficiency due to STIM1 deficiency, Creatine phosphokinase elevation, DPAGT1-congenital disorder of glycosylation and 3 more	regulation of calcium ion transport GO · q=4.48e-5
Cluster 218	8	Combined pituitary hormone deficiency, Congenital hypopituitarism, Growth hormone deficiency with pituitary anomalies, hypogonadotropic hypogonadism 3 with or without anosmia, Pituitary hormone deficiency and 3 more	pituitary gland development GO · q=1.89e-10
Cluster 219	8	Central nervous system demyelinating disease, Deafness enamel hypoplasia nail defects, Deafness-enamel hypoplasia-nail defects syndrome, dilated cardiomyopathy 2B, Heimler syndrome and 3 more	protein import into peroxisome matrix, receptor recycling GO · q=7.38e-7
Cluster 220	8	Intestinal pseudo-obstruction, Megacystis microcolon intestinal hypoperistalsis syndrome, microcephaly with lissencephaly and/or hydranencephaly, Microhydranencephaly, Microlissencephaly and 3 more	Smooth Muscle Contraction Pathway · q=3.54e-7
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=7.28e-3
Cluster 222	7	Adrenal gland neoplasms, Cobblestone lissencephaly, Corneal disease, Corneal edema, Paranoia and 2 more	MET activates PTK2 signaling Pathway · q=1.94e-3
Cluster 223	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=8.38e-3
Cluster 224	7	8q24.3 microdeletion syndrome, Charge syndrome, Congenital heart defect, intellectual disability, facial dysmorphism syndrome, Diets-jongmans syndrome, Intellectual developmental disorder dysmorphic cardiac short stature and 2 more	chromatin organization GO · q=6.84e-9
Cluster 225	7	Dentici novelli neurodevelopmental syndrome, Hepatic veno occlusive disease with immunodeficiency, Hodgkin lymphoma, Lymphocytic b-cell leukemia, Lymphocytic leukemia and 2 more	response to gamma radiation GO · q=1.52e-7
Cluster 226	7	Cholelithiasis, Hyperbiliverdinemia, hyperphenylalaninemia due to DNAJC12 deficiency, Liver cirrhosis, Liver disease and 2 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=6.94e-25
Cluster 227	7	Hyperthermia, Hypochromic anemia, Hypochromic microcytic anemia, Hypochromic sideroblastic anemia, Iron deficiency anemia and 2 more	intracellular iron ion homeostasis GO · q=2.71e-9
Cluster 228	7	Alys amyloidosis, Amyloidosis, amyloidosis, hereditary systemic 6, Beta2-microglobulinic amyloidosis, Hypergammaglobulinemia and 2 more	Amyloid fiber formation Pathway · q=4.97e-10
Cluster 229	7	Central precocious puberty, Craniofacial deafness hand syndrome, Kleins syndrome, Waardenburg syndrome, Waardenburg syndrome type 2 and 2 more	melanocyte differentiation GO · q=1.74e-6
Cluster 230	7	Annular epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma, Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic ichthyosis, Epidermolytic palmoplantar keratoderma and 2 more	response to oxidative stress GO · q=4.99e-8
Cluster 231	7	Aceruloplasminemia, Apoceruloplasmin deficiency, Ferroxidase deficiency, hemochromatosis type 4, Hemosiderosis and 2 more	intracellular iron ion homeostasis GO · q=3.81e-11
Cluster 232	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=2.26e-4
Cluster 233	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=2.61e-9
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=6.17e-7
Cluster 235	7	Cutaneous mastocytosis, Intellectual developmental disorder growth seizures, isovaleric acidemia, Mastocytosis, Secondary malignant neoplasm and 2 more	'de novo' UMP biosynthetic process GO · q=1.35e-5
Cluster 236	7	Auricle malformation, Degcags syndrome, Diamond-blackfan anemia, diamond-blackfan anemia 6, Erythroid hypoplasia and 2 more	cytoplasmic translation GO · q=2.61e-35
Cluster 237	7	Adenylosuccinate lyase deficiency, Cholecystitis, Cholecystolithiasis, cone-rod dystrophy 20, Gallstones and 2 more	Bile secretion Pathway · q=1.89e-18
Cluster 238	7	Alternating hemiplegia of childhood, ATP1A3-associated neurological disorder, Capos syndrome, Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss, Congenital epicanthus and 2 more	potassium ion transport GO · q=1.14e-4
Cluster 239	7	Cerebellar atrophy, Congenital cataract microcephaly intellectual disability syndrome, Congenital cerebellar hypoplasia, Dysarthria, Polyneuropathy and 2 more	response to hyperoxia GO · q=6.35e-4
Cluster 240	7	Corneal astigmatism, Deeah syndrome, Diaphanospondylodysostosis, Glaucoma, neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus and 2 more	positive regulation of transcription by RNA polymerase II GO · q=7.75e-8
Cluster 241	7	AIPL1-related retinopathy, Blindness, Congenital blindness, LCA5-related retinopathy, Retinitis pigmentosa with choroidal involvement and 2 more	visual perception GO · q=1.34e-9
Cluster 242	7	Canavan disease, Fraser syndrome, Genetic infertility, Infertility, Olmsted syndrome and 2 more	mammary gland duct morphogenesis GO · q=2.26e-3
Cluster 243	7	Bell's palsy, Charcot-Marie-Tooth disease axonal type 2CC, Giant axonal neuropathy, Nervous system disease, Non-neoplastic peripheral nervous system disease and 2 more	Antifolate resistance Pathway · q=1.17e-8
Cluster 244	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=2.14e-4
Cluster 245	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 246	7	Alpha-mannosidosis, Cobalamin c disease, Intracellular cobalamin metabolism disorder, Methylmalonic acidemia, methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency and 2 more	Cobalamin transport and metabolism Pathway · q=1.11e-31
Cluster 247	7	ALS2-related motor neuron disease, Beta-mannosidosis, glutaryl-CoA dehydrogenase deficiency, hawkinsinuria, Hypertyrosinemia and 2 more	Tyrosine catabolism Pathway · q=3.06e-7
Cluster 248	7	Comp-related skeletal dysplasia, Epiphyseal dysplasia, Laryngeal hypoplasia, Marshall syndrome, Stickler syndrome and 2 more	Collagen biosynthesis and modifying enzymes Pathway · q=4.94e-14
Cluster 249	7	Chromosome 16p13.3 deletion syndrome, Congenital cleft hand, Congenital malformation syndromes predominantly involving limbs, fanconi anemia complementation group l, Rubinstein-taybi syndrome and 2 more	positive regulation of transcription by RNA polymerase II GO · q=2.72e-8
Cluster 250	7	Bladder disease, Congenital high-molecular-weight kininogen deficiency, Extravasation of diagnostic and therapeutic materials, Hereditary angioedema, Hyperemia and 2 more	inflammatory response GO · q=6.60e-7
Cluster 251	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=2.61e-3
Cluster 252	7	Asthma, Eczema, Inflammatory skin disease, Intellectual developmental disorder neuropsychiatric, neurodevelopmental disorder with spasticity, seizures, and brain abnormalities and 2 more	Inflammatory bowel disease Pathway · q=1.33e-25
Cluster 253	7	anterior segment dysgenesis 4, Axenfeld anomaly, Axenfeld-rieger syndrome, FOXC1-related anterior segment dysgenesis, Iridogoniodysgenesis and 2 more	brain development GO · q=8.18e-5
Cluster 254	7	Apolipoprotein a5 deficiency, congenital disorder of glycosylation, type iit, Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, Hyperlipidemia, Hypertriglyceridemia and 2 more	Cholesterol metabolism Pathway · q=2.22e-18
Cluster 255	7	Anterior cruciate ligament injury, Arginase deficiency, Colonic polyps, Immune system disorder, macrothrombocytopenia, isolated and 2 more	positive regulation of neutrophil mediated killing of fungus GO · q=1.84e-5
Cluster 256	7	Hemiparkinsonism, Hereditary parkinson disease, Juvenile parkinsonism, Parkinsonian-pyramidal syndrome, Secondary parkinson disease and 2 more	adult locomotory behavior GO · q=8.75e-7
Cluster 257	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=6.41e-3
Cluster 258	7	Aphasia, Cardiac tamponade, Commisural aphasia, Dejerine-lichtheim phenomenon, Dysphasia and 2 more	olfactory cortex development GO · q=5.46e-3
Cluster 259	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=8.87e-3
Cluster 260	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=7.35e-22
Cluster 261	7	Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Bockenheimer syndrome, Congenital venous anomaly, Mucocutaneous venous malformations and 2 more	Tie2 Signaling Pathway · q=2.03e-5
Cluster 262	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 263	7	asphyxiating thoracic dystrophy 3, Bowed long bones, Buruli ulcer, Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Congenital camptodactyly and 2 more	nitrite transport GO · q=6.41e-3
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=7.69e-7
Cluster 265	7	Congenital cranial dysinnervation disorder, Cryptogenic multifocal ulcerous stenosing enteritis, Curling ulcer, Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder, Diffuse gastric adenocarcinoma and 2 more	response to estradiol GO · q=2.56e-4
Cluster 266	7	Bernard-soulier syndrome, Cerebral thrombosis, hereditary von Willebrand disease, Intracranial thrombosis, platelet-type bleeding disorder 8 and 2 more	blood coagulation GO · q=3.55e-19
Cluster 267	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=3.31e-3
Cluster 268	7	Clonal cytopenia of undetermined significance, coffin-lowry syndrome, Developmental delay with behavioral abnormalities, heyn-sproul-jackson syndrome, Microcephalic dwarfism and 2 more	ERBB signaling pathway GO · q=2.12e-4
Cluster 269	7	Dermatopathia pigmentosa reticularis, Ductal carcinoma of breast, Epidermolysis bullosa simplex, Papilloma, Sjogren-larsson syndrome and 2 more	Gastric cancer Pathway · q=1.84e-8
Cluster 270	7	Bleeding esophageal varices, Dyshidrosis, Esophageal and gastric varices, Esophageal varices, Portal hypertension and 2 more	negative regulation of cell-cell adhesion GO · q=5.44e-3
Cluster 271	7	Bundle branch block, Cerebral atrophy, Coronary aneurysm, Dock2 deficiency, Intellectual developmental disorder expressive speech dysmorphic and 2 more	cerebral cortex radially oriented cell migration GO · q=8.99e-3
Cluster 272	7	Cataract-microcornea-metabolic syndrome, Cleft eyelid, Coloboma, Congenital iris coloboma, Congenital ocular coloboma and 2 more	eye development GO · q=2.23e-6
Cluster 273	7	Childhood-onset epilepsy syndrome, familial sleep-related hypermotor epilepsy, Focal onset epileptic seizure, Frontal lobe epilepsy, intellectual disability, autosomal dominant 42 and 2 more	monoatomic ion transport GO · q=3.57e-7
Cluster 274	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=9.35e-4
Cluster 275	7	Cortical dysplasia, Cortical occipital malformations, Developmental delay with language impairment and movement disorder, Intellectual developmental disorder autism speech, Intellectual developmental disorder language neurodegenerative and 2 more	adult locomotory behavior GO · q=7.18e-3
Cluster 276	7	Corticosterone methyl oxidase type i, Corticosterone methyloxidase deficiency, Corticosterone monooxygenase deficiency, Familial hypoaldosteronism, Glucocorticoid-remediable aldosteronism and 2 more	aldosterone biosynthetic process GO · q=2.74e-6
Cluster 277	6	Anti-nmda receptor encephalitis, Birdshot chorioretinopathy, Carbamazepine hypersensitivity, Paraparesis, Thrombophlebitis and 1 more	antigen processing and presentation of peptide antigen via MHC class I GO · q=4.61e-7
Cluster 278	6	acute myeloid leukemia, ciliary dyskinesia, primary, 44, hearing loss, autosomal recessive, Hoarding disorder, Pericarditis and 1 more	sensory perception of sound GO · q=1.01e-2
Cluster 279	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=1.43e-4
Cluster 280	6	Congenital retrognathism, greenberg dysplasia, Pelger-huet anomaly, regressive spondylometaphyseal dysplasia, Reynolds syndrome and 1 more	face morphogenesis GO · q=2.21e-3
Cluster 281	6	Amblyopia, Christianson syndrome, CNGB1-related retinopathy, Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment, neurodevelopmental disorder with severe motor impairment and absent language and 1 more	negative regulation of osteoclast differentiation GO · q=1.41e-4
Cluster 282	6	Abruzzo-erickson syndrome, Cleft palate with ankyloglossia, Cleft palate x-linked, fanconi anemia complementation group d2, Uranostaphyloschisis and 1 more	positive regulation of neuron migration GO · q=4.99e-3
Cluster 283	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=1.34e-3
Cluster 284	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 285	6	Acatalasia, amyotrophic lateral sclerosis type 1, Aortic disease, Bonnevie-ullrich syndrome, Turner syndrome and 1 more	Detoxification of Reactive Oxygen Species Pathway · q=7.89e-7
Cluster 286	6	Achromatopsia, ATF6-related retinopathy, CNGA3-related retinopathy, CNGB3-related retinopathy, GNAT2-related retinopathy and 1 more	visual perception GO · q=5.33e-9
Cluster 287	6	Antecubital pterygium syndrome, Genitourinary disease, Hengel maroofian schols syndrome, Isolated anhidrosis, Malunion fracture and 1 more	neuron recognition GO · q=2.24e-3
Cluster 288	6	Diencephalic mesencephalic junction dysplasia, Exudative retinopathy, Exudative vitreoretinopathy, FZD4-related exudative vitreoretinopathy, RCBTB1-related retinopathy and 1 more	Norrin signaling pathway GO · q=1.88e-9
Cluster 289	6	Acrofacial dysostosis, Curry-hall syndrome, Ellis-van creveld syndrome, primary ciliary dyskinesia 14, SF3B4-related acrofacial dysostosis and 1 more	Hedgehog signaling pathway Pathway · q=1.59e-7
Cluster 290	6	Acrokeratosis verruciformis, Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome, Diabetic cardiomyopathy, Distal anoctaminopathy, gnathodiaphyseal dysplasia and 1 more	nitric oxide-cGMP-mediated signaling GO · q=1.30e-5
Cluster 291	6	Anisometropia, Concussion, Lipomatosis, maturity-onset diabetes of the young type 8, PTEN hamartoma tumor syndrome and 1 more	synapse assembly GO · q=6.19e-3
Cluster 292	6	Ameloblastoma, Congenital hypothalamic hamartoma syndrome, Curry-jones syndrome, Meningioma, mosaic SMO syndrome and 1 more	Hepatocellular carcinoma Pathway · q=3.02e-6
Cluster 293	6	Congenital communicating hydrocephalus, Congenital hydrocephalus, Cryptospermia, Hydrocephalus, scott syndrome and 1 more	neural tube closure GO · q=1.04e-3
Cluster 294	6	Bronchus cancer, Coumarin resistance, Cri-du-chat syndrome, dyskeratosis congenita, autosomal dominant 2, Large cell carcinoma and 1 more	establishment of protein localization to telomere GO · q=2.75e-4
Cluster 295	6	alacrima, achalasia, and intellectual disability syndrome, Glucocorticoid deficiency with achalasia, Intellectual developmental disorder dysmorphic strabismus, Intellectual developmental disorder movement cerebellar, Intellectual disability with strabismus syndrome and 1 more	negative regulation of phosphate metabolic process GO · q=6.41e-3
Cluster 296	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=6.50e-7
Cluster 297	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=1.97e-9
Cluster 298	6	Albinism, Eye neoplasms, Oculocutaneous albinism, Prader-willi syndrome, Rufous oculocutaneous albinism and 1 more	melanin biosynthetic process GO · q=4.38e-14
Cluster 299	6	Bone disease, Bone fracture, Dupuytren contracture, Metabolic bone disorder, Parkinsonism with polyneuropathy and 1 more	canonical Wnt signaling pathway GO · q=7.41e-10
Cluster 300	6	cutis laxa, autosomal dominant 1, Dermatitis herpetiformis, Extrinsic allergic alveolitis, Pregnancy disorder, Refractory anemia and 1 more	positive regulation of chronic inflammatory response to antigenic stimulus GO · q=3.27e-5
Cluster 301	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=5.86e-6
Cluster 302	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=5.02e-8
Cluster 303	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=6.46e-4
Cluster 304	6	Anaplastic astrocytoma, Anaplastic oligoastrocytoma, Anaplastic oligodendroglioma, Chordoma, Congenital chromosomal disease and 1 more	glyoxylate cycle GO · q=1.44e-5
Cluster 305	6	Central nervous system disease, Choroidal neovascularization, Diabetes microvascular complications, Esophageal stenosis, Paraneoplastic syndrome and 1 more	intrinsic apoptotic signaling pathway in response to DNA damage GO · q=2.96e-6
Cluster 306	6	Boichis syndrome, Cerebellar malformation, Chylomicron retention disease, Coach syndrome, Rhyns syndrome and 1 more	cilium assembly GO · q=3.10e-8
Cluster 307	6	Atherosclerosis, Cerebrovascular disorder, Peripheral arterial disease, Peripheral vascular disease, Stroke and 1 more	positive regulation of gene expression GO · q=4.94e-10
Cluster 308	6	Angiokeratoma, Cavernous malformations of cns, Cerebral cavernous malformation, Congenital cerebral aneurysm, Congenital malformation of cerebral vessels and 1 more	endothelium development GO · q=4.61e-6
Cluster 309	6	bleeding disorder, platelet-type, 21, Congenital left-sided heart lesions, Extraskeletal ewing sarcoma, Paris-trousseau thrombocytopenia, Peripheral primitive neuroectodermal tumor and 1 more	development of primary female sexual characteristics GO · q=7.38e-4
Cluster 310	6	Bent bone dysplasia, Campomelic dysplasia, Camptomelic dysplasia, Cooks syndrome, isolated Pierre-Robin syndrome and 1 more	prostate gland morphogenesis GO · q=1.95e-5
Cluster 311	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=8.83e-12
Cluster 312	6	ARHGAP29-related non-syndromic orofacial cleft, Bilateral cleft lip, Blepharocheilodontic syndrome, Cleft lip with or without cleft palate, Hereditary diffuse gastric and lobular breast cancer syndrome and 1 more	cell-cell adhesion mediated by cadherin GO · q=1.27e-6
Cluster 313	6	Arhinia-choanal atresia-microphthalmia syndrome, Bosma arhinia microphthalmia syndrome, Chediak-higashi syndrome, Congenital hereditary facial paralysis with variable hearing loss syndrome, Facial nerve disorder and 1 more	dosage compensation by inactivation of X chromosome GO · q=9.30e-4
Cluster 314	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=2.01e-4
Cluster 315	6	Capillary leak syndrome, Coronary artery vasospasm, Coronary vasospasm, Intestinal perforation, Resistant hypertension and 1 more	Nitric oxide stimulates guanylate cyclase Pathway · q=1.24e-4
Cluster 316	6	Arthralgia, Bone marrow neoplasms, Hyper-igd syndrome, Hyper-immunoglobulin d syndrome, methylmalonic aciduria, cblb type and 1 more	isoprenoid biosynthetic process GO · q=2.82e-4
Cluster 317	6	Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar ataxia, intellectual disability, and dysequilibrium, Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts, Cerebellar ataxia, mental retardation, and dysequilibrium, Cerebellar hypoplasia and 1 more	involuntary skeletal muscle contraction GO · q=8.08e-3
Cluster 318	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=2.51e-3
Cluster 319	6	Benign recurrent intrahepatic cholestasis, Intrahepatic cholestasis, Intrahepatic cholestasis of pregnancy, mednik syndrome, progressive familial intrahepatic cholestasis type 3 and 1 more	Bile secretion Pathway · q=4.54e-10
Cluster 320	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=4.55e-3
Cluster 321	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=2.74e-3
Cluster 322	6	Bart-pumphrey syndrome, Deafness, digenic, Keratitis ichthyosis hearing loss syndrome, Peripheral neuropathy with sensorineural hearing impairment syndrome, Vohwinkel syndrome and 1 more	peptide cross-linking GO · q=7.28e-4
Cluster 323	6	Chromosome 10q deletion syndrome, Developmental delay with ataxia, hypotonia, and facial dysmorphism, Developmental regression, Hepatoencephalopathy due to combined oxidative phosphorylation defect, hypotonia, ataxia, and delayed development syndrome and 1 more	gallbladder development GO · q=4.64e-4
Cluster 324	6	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 1 more	response to fungus GO · q=1.04e-4
Cluster 325	6	Chiari-frommel syndrome, Disruptive impulse-control and conduct disorder, Hyperproinsulinemia, Hyperprolactinemia, Myoclonic dystonia and 1 more	Hormone signaling Pathway · q=9.48e-9
Cluster 326	6	Benign samaritan congenital myopathy, Central core disease, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, Periodic paralysis with transient compartment-like syndrome and 1 more	cellular response to caffeine GO · q=3.27e-5
Cluster 327	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=7.15e-3
Cluster 328	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=4.33e-5
Cluster 329	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=3.62e-4
Cluster 330	6	Congenital sensory neuropathy, Laryngo-onycho-cutaneous syndrome, Periapical periodontitis, Prolidase deficiency, Skin ulcer and 1 more	nerve growth factor signaling pathway GO · q=2.48e-5
Cluster 331	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=3.92e-4
Cluster 332	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=5.46e-3
Cluster 333	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=1.18e-5
Cluster 334	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=2.29e-8
Cluster 335	6	Immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-facial anomalies syndrome 1, immunodeficiency-centromeric instability-facial anomalies syndrome 2, immunodeficiency-centromeric instability-facial anomalies syndrome 3, immunodeficiency-centromeric instability-facial anomalies syndrome 4 and 1 more	chromatin organization GO · q=1.76e-5
Cluster 336	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=6.72e-5
Cluster 337	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=4.95e-20
Cluster 338	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=2.24e-3
Cluster 339	6	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Cortisone reductase deficiency, Hyperandrogenism, Right bundle branch block, Right cardiac ventricular dilatation and 1 more	positive regulation of ossification GO · q=1.70e-5
Cluster 340	6	Erythrocyte udp-galactose-4-epimerase deficiency, galactose epimerase deficiency, Galactose mutarotase deficiency, Galactosemia, Udp-glucose 4-epimerase deficiency and 1 more	galactose catabolic process via UDP-galactose, Leloir pathway GO · q=7.80e-13
Cluster 341	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 342	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=5.71e-5
Cluster 343	5	15q24 microdeletion, Chromosome 15q24 deletion syndrome, Congenital diaphragmatic hernia, SIN3A-related intellectual disability syndrome, Witteveen-kolk syndrome	anatomical structure morphogenesis GO · q=3.65e-6
Cluster 344	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=1.08e-11
Cluster 345	5	Carpal tunnel syndrome, Congenital cartilage disorder, Copper metabolism disorder, Osteochondrodysplasias, Rhizomelic dysplasia, ain-naz type	skeletal system development GO · q=3.37e-9
Cluster 346	5	17,20-lyase deficiency, Amenorrhea, Congenital adrenal hyperplasia, Isolated follicle-stimulating hormone deficiency, Steroid 17-alpha-monooxygenase deficiency	Cortisol synthesis and secretion Pathway · q=5.21e-11
Cluster 347	5	17p11.2 microduplication syndrome, Birt-hogg-dube syndrome, Potocki-lupski syndrome, Smith-magenis syndrome, syndromic X-linked intellectual disability Snyder type	negative regulation of cell proliferation involved in kidney development GO · q=6.41e-3
Cluster 348	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=3.41e-6
Cluster 349	5	1p21.3 microdeletion syndrome, Anal polyp, Dihydropyrimidinase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine metabolism disorder	uracil catabolic process GO · q=1.44e-5
Cluster 350	5	1p36 deletion syndrome, Dyssegmental dysplasia, radio-tartaglia syndrome, Schwartz-jampel syndrome, Silverman-Handmaker type dyssegmental dysplasia	neural fold bending GO · q=1.35e-2
Cluster 351	5	Bile acid malabsorption, Brain disease, Cognition disorder, Delirium, dementia, and cognitive disorders, Diabetes complications	negative regulation of gene expression GO · q=6.68e-10
Cluster 352	5	Acrocapitofemoral dysplasia, Brachydactyly, Cernunnos-XLF deficiency, leber congenital amaurosis 15, Syndactyly	embryonic digit morphogenesis GO · q=1.93e-14
Cluster 353	5	3mc syndrome, Carnevale syndrome, Craniofacial ulnar renal syndrome, Malpuech facial clefting syndrome, Oculopalatosekeletal syndrome	Lectin pathway of complement activation Pathway · q=9.82e-7
Cluster 354	5	Carbohydrate metabolism disease, Carbohydrate metabolism disorder, MPI-congenital disorder of glycosylation, Transaldolase deficiency, Triose phosphate isomerase deficiency	Carbon metabolism Pathway · q=1.53e-6
Cluster 355	5	amyotrophic lateral sclerosis type 9, Bosch-boonstra-schaaf optic atrophy syndrome, Cataract-growth hormone deficiency-skeletal dysplasia syndrome, immunodeficiency, common variable, 5, Ovarian cysts	proteoglycan metabolic process GO · q=4.95e-3
Cluster 356	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=2.29e-5
Cluster 357	5	Adult myoclonic epilepsy, Benign adult familial myoclonic epilepsy, Benign myoclonic epilepsy, Early onset epilepsy with developmental delay, Familial adult myoclonic epilepsy	establishment of protein localization to juxtaparanode region of axon GO · q=1.10e-2
Cluster 358	5	Cerebral creatine deficiency syndrome, Creatine deficiency, Creatine transporter deficiency, Guanidinoacetate methyltransferase deficiency, X-linked creatine transporter deficiency	creatine metabolic process GO · q=1.52e-9
Cluster 359	5	atypical hemolytic-uremic syndrome with B factor anomaly, C3 glomerulonephritis, Hemolytic uremic syndrome, hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, Mesangiocapillary glomerulonephritis	complement activation GO · q=2.77e-17
Cluster 360	5	IFIH1-related type 1 interferonopathy, joubert syndrome 3, Microscopic colitis, Selective iga deficiency disease, Selective immunoglobulin a deficiency	Allograft rejection Pathway · q=1.41e-4
Cluster 361	5	Aldosterone-producing adenoma, Brain compression, Breast cyst, Primary hyperaldosteronism-seizures-neurological abnormalities syndrome, sinoatrial node dysfunction and deafness	regulation of heart rate by cardiac conduction GO · q=3.18e-4
Cluster 362	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=4.44e-3
Cluster 363	5	ALPL-related autosomal dominant hypophosphatasia, ALPL-related autosomal recessive hypophosphatasia, Childhood hypophosphatasia, Hypophosphatasia, Micromelia	response to lipopolysaccharide GO · q=2.50e-3
Cluster 364	5	Atrial septal defect, Bafopathy, Congenital heart septal defect, renpenning syndrome, Ventricular septal defect	heart development GO · q=2.24e-13
Cluster 365	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=5.99e-4
Cluster 366	5	Amelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Enamel-renal syndrome, Hypomaturation amelogenesis imperfecta	biomineral tissue development GO · q=1.01e-17
Cluster 367	5	Argininosuccinic aciduria, Citrin deficiency, Citrullinemia, ornithine translocase deficiency, Urea cycle disorder	urea cycle GO · q=1.01e-19
Cluster 368	5	autoimmune lymphoproliferative syndrome type 1, Diabetic angiopathies, Diabetic peripheral angiopathy, Dihydropteridine reductase deficiency, Liver failure	response to hypoxia GO · q=2.76e-8
Cluster 369	5	Cardiomyopathy, cardiomyopathy, dilated, 2h, Dilated cardiomyopathy, dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy	Cytoskeleton in muscle cells Pathway · q=8.62e-32
Cluster 370	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=6.95e-15
Cluster 371	5	Anterior compartment syndrome, Heme oxygenase deficiency, Hemolysis, Intracranial vasospasm, Vascular system injury	vasodilation GO · q=3.57e-7
Cluster 372	5	Analbuminemia, Anuria, Blood protein disorder, Congenital analbuminemia, Dysalbuminemic hyperthyroxinemia	positive regulation of epidermal growth factor receptor signaling pathway GO · q=4.77e-4
Cluster 373	5	Brachydactyly-short stature-retinits pigmentosa syndrome, Diverticulitis, Metaphyseal chondrodysplasia with retinitis pigmentosa, Osteonecrosis, Retinitis pigmentosa with or without skeletal anomalies	synaptic membrane adhesion GO · q=2.14e-4
Cluster 374	5	autosomal dominant polycystic kidney disease, IFT140-related recessive ciliopathy, Mainzer-saldino disease, renal-hepatic-pancreatic dysplasia 2, Saldino-mainzer syndrome	determination of left/right symmetry GO · q=9.51e-8
Cluster 375	5	Bladder neck obstruction, Carcinoma in situ, Ovarian diseases, Pericardial effusion, Urinary bladder neck obstruction	Ovarian steroidogenesis Pathway · q=1.21e-4
Cluster 376	5	Constipation, Eye pain, Pancreatic diseases, Rhabdomyoma, Sacroiliitis	Opioid Signalling Pathway · q=8.97e-5
Cluster 377	5	Brittle cornea syndrome, Congenital anomaly of limb, Congenital skin anomaly, geroderma osteodysplastica, Skin abnormalities	skeletal system development GO · q=2.57e-9
Cluster 378	5	Apnea, Butyrylcholinesterase deficiency, Paralysis, Paresis, Trismus	serotonin metabolic process GO · q=1.16e-3
Cluster 379	5	Hereditary hyperekplexia, Hyperekplexia, Hyperexplexia hereditary, Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome, sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	synaptic transmission, glycinergic GO · q=6.42e-9
Cluster 380	5	Apraxia, Cataplexy, Developmental delay with variable intellectual disability, Marinesco-sjogren syndrome, Ophthalmoplegia	negative regulation of neuron remodeling GO · q=1.30e-2
Cluster 381	5	Arachnodactyly, Byzanthine arch palate, Ck syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, Perisylvian polymicrogyria	post-embryonic eye morphogenesis GO · q=1.69e-4
Cluster 382	5	Blau syndrome, Bronchiolitis obliterans, Granulomatous inflammatory arthritis-dermatitis-uveitis, familial, Intestinal disease, Yao syndrome	positive regulation of interleukin-8 production GO · q=3.92e-5
Cluster 383	5	C1 esterase inhibitor deficiency, C9 deficiency, Complement component deficiency, Hereditary c1 esterase inhibitor deficiency, Terminal complement component deficiency	complement activation GO · q=7.45e-40
Cluster 384	5	Atypical multiple mole melanoma syndrome, Brain stem neoplasms, Intellectual developmental disorder growth other organ, melanoma-pancreatic cancer syndrome, Trisomy	Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Pathway · q=2.41e-9
Cluster 385	5	Au-kline syndrome, Chuvash erythrocytosis, Erythrocytosis due to tissue hypoxemia, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, Von hippel-lindau syndrome	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO · q=7.28e-3
Cluster 386	5	Catel-manzke syndrome, Congenital vertebral-cardiac-renal anomalies syndrome, Hyperopia, Trichotillomania, Vertebral, cardiac, renal, and limb defects syndrome	regulation of neuronal synaptic plasticity GO · q=3.10e-4
Cluster 387	5	Biliary atresia, Central hypoventilation syndrome, Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease	neural crest cell migration GO · q=7.75e-13
Cluster 388	5	Cerebral sinovenous thrombosis, Congenital factor ii deficiency, Congenital prothrombin deficiency, Hemophilia b, thrombophilia due to thrombin defect	hemostasis GO · q=2.04e-8
Cluster 389	5	BAP1-related tumor predisposition syndrome, Mucoepidermoid carcinoma, spermatogenic failure 18, Testicular neoplasms, Tumor predisposition syndrome	cell population proliferation GO · q=3.88e-5
Cluster 390	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=1.49e-5
Cluster 391	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=2.14e-4
Cluster 392	5	Combined oxidative phosphorylation defect, Dopamine transporter deficiency syndrome, Mild cognitive impairment, Parkinsonism-dystonia, SLC6A3-related dopamine transporter deficiency syndrome	monoamine transport GO · q=2.10e-4
Cluster 393	5	Bethlem myopathy, collagen 6-related myopathy, Collagen vi muscular dystrophy, dystonia 27, Ullrich congenital muscular dystrophy	Collagen chain trimerization Pathway · q=2.50e-7
Cluster 394	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=1.23e-2
Cluster 395	5	Blepharophimosis-ptosis-epicanthus inversus syndrome, Dicer1 syndrome, Granulosa cell tumor of ovary, Sertoli-leydig cell tumor of ovary, Vertebral anomalies with endocrine and t-cell dysfunction	apoptotic DNA fragmentation GO · q=9.38e-5
Cluster 396	5	Hypocalcemic vitamin d-dependent rickets, Pancreatic trypsinogen deficiency, Peptic esophagitis, Rickets, Vitamin d dependent rickets	calcitriol biosynthetic process from calciol GO · q=3.27e-7
Cluster 397	5	Brachydactyly-syndactyly syndrome, Brachymesophalangy, Hemimelia of limb, Synpolydactyly, Zygodactyly	embryonic digit morphogenesis GO · q=1.30e-5
Cluster 398	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=1.52e-4
Cluster 399	5	C syndrome, Corneal ulcer, Eye disease, Proliferative diabetic retinopathy, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	vitamin A metabolic process GO · q=5.73e-4
Cluster 400	5	Chagas cardiomyopathy, Chudley-mccullough syndrome, Hereditary elliptocytosis, Neonatal anemia, Perinatal hemolytic anemia	actin filament capping GO · q=2.97e-4
Cluster 401	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=2.98e-5
Cluster 402	5	Bullous diffuse cutaneous mastocytosis, Mast cell leukemia, Telangiectasia macularis eruptiva perstans, Testicular seminoma, Urticaria pigmentosa	melanocyte adhesion GO · q=1.96e-3
Cluster 403	5	Carasil syndrome, Malignant peripheral nerve sheath tumor, Malignant triton tumor, Small vessel stroke, spinocerebellar ataxia, autosomal recessive 31	Inflammatory mediator regulation of TRP channels Pathway · q=1.13e-2
Cluster 404	5	Cardiogenetic disease, Congenital esophageal anomaly, Congenital insufficiency of mitral valve, Repolarization syndrome, X-linked opitz syndrome	establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis GO · q=9.61e-3
Cluster 405	5	DDOST-congenital disorder of glycosylation, fructose-1,6-bisphosphatase deficiency, Galactokinase deficiency, Glucocorticoid receptor deficiency/resistance, Ocular hypertension	regulation of gluconeogenesis GO · q=1.75e-2
Cluster 406	5	Embryonal carcinoma, Gingival diseases, Gingivitis, Hyaline fibromatosis, Prostatic hyperplasia	Prostate cancer Pathway · q=1.27e-4
Cluster 407	5	Cerebral embolism, Hypercalcemic tumoral calcinosis, Hyperphosphatemic tumoral calcinosis, Intracranial embolism, Tumoral calcinosis	fibroblast growth factor receptor signaling pathway GO · q=1.49e-5
Cluster 408	5	Chromosome 22q11.2 deletion syndrome, Hyperammonemia, interstitial lung disease due to ABCA3 deficiency, ornithine carbamoyltransferase deficiency, systemic lupus erythematosus, susceptibility to, 1	Arginine biosynthesis Pathway · q=8.63e-8
Cluster 409	5	Cleft palate psychomotor retardation distinctive facial features, Macronodular adrenal hyperplasia, Osteoma cutis, palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Primary bilateral macronodular adrenal hyperplasia	positive regulation of cold-induced thermogenesis GO · q=2.86e-3
Cluster 410	5	Colorectal cancer susceptibility, mandibular hypoplasia-deafness-progeroid syndrome, non-severe combined immunodeficiency due to polymerase delta deficiency, Paraquat lung disease, POLD1-related polyposis and colorectal cancer syndrome	PCNA-Dependent Long Patch Base Excision Repair Pathway · q=1.06e-5
Cluster 411	5	Congenital folate absorption defect, Hereditary folate malabsorption, Malabsorption syndrome, MECOM-associated syndrome, Pancytopenia	tetrahydrofolate biosynthetic process GO · q=6.46e-4
Cluster 412	5	Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Sengers syndrome, Trichohepatoenteric syndrome, Triokinase and fmn cyclase deficiency	apoptotic mitochondrial changes GO · q=1.02e-3
Cluster 413	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=1.45e-14
Cluster 414	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=1.32e-4
Cluster 415	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=3.36e-3

415 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?