Disease Clusters | GeDiPNet

Craniofacial dysostosis 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 →

4,070 of 5,762 diseases (71%) fall into one of 426 clusters. The remaining 1,692 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	81	Acute disseminated encephalomyelitis, Anti-neutrophil antibody associated vasculitis, Antiphospholipid syndrome, Apolipoprotein b hypobetalipoproteinemia, Arthritis and 76 more	Leishmaniasis Pathway · q=2.42e-18
Cluster 2	78	3-methylcrotonyl-coa carboxylase deficiency, Alopecia-neurological defects-endocrinopathy syndrome, Alzheimer disease, Anxiety disorder, Atrial fibrillation and 73 more	positive regulation of transcription by RNA polymerase II GO · q=7.81e-22
Cluster 3	46	5-oxoprolinase deficiency, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Atrial flutter, Atrial tachyarrhythmia, infra-hisian cardiac conduction disease and 41 more	regulation of heart rate by cardiac conduction GO · q=1.50e-44
Cluster 4	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=5.38e-53
Cluster 5	38	1q44 microdeletion syndrome, Al kaissi syndrome, Al-raqad syndrome, aspartylglucosaminuria, basilicata-akhtar syndrome and 33 more	nervous system development GO · q=5.04e-39
Cluster 6	36	Acyl-coa binding domain containing protein 5 deficiency, Alzahrani-kuwahara syndrome, autosomal recessive optic atrophy, OPA7 type, BBS5-related ciliopathy, CERKL-related retinopathy and 31 more	visual perception GO · q=8.66e-124
Cluster 7	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=5.44e-85
Cluster 8	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=1.03e-38
Cluster 9	31	Acrofacial dysostosis, Bowen’s disease, Cecal neoplasms, Cervicitis, Craniofaciocardiohepatic syndrome and 26 more	Pathways in cancer Pathway · q=9.27e-20
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=1.68e-23
Cluster 11	26	autosomal recessive limb-girdle muscular dystrophy, Axonal neuropathy with neuromyotonia, Bjornstad syndrome, Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy and 21 more	Cytoskeleton in muscle cells Pathway · q=3.00e-28
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	23	Avascular necrosis of femoral head, Beukes hip dysplasia, Chondrosarcoma, COL2A1-related spondyloepiphyseal dysplasia, Collagenopathy and 18 more	cartilage development involved in endochondral bone morphogenesis GO · q=1.05e-4
Cluster 14	22	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 17 more	Amyotrophic lateral sclerosis Pathway · q=1.82e-9
Cluster 15	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=8.65e-46
Cluster 16	22	Angiocentric glioma, beta-thalassemia HBB/LCRB, Cooleys anemia, Cyanosis, Delta-beta thalassemia and 17 more	carbon dioxide transport GO · q=1.43e-8
Cluster 17	21	Androgenetic alopecia, Breast cancer, C3hex olfactory ability, Cancer, Colorectal adenoma and 16 more	positive regulation of transcription by RNA polymerase II GO · q=1.43e-19
Cluster 18	21	Adrenocortical carcinoma, B-cell acute lymphoblastic leukemia, B-cell chronic lymphocytic leukemia, B-lymphoblastic leukemia/lymphoma, Central nervous system neoplasms and 16 more	positive regulation of transcription by RNA polymerase II GO · q=3.75e-9
Cluster 19	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=6.03e-33
Cluster 20	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=2.06e-6
Cluster 21	20	Allergic contact dermatitis, Atopic dermatitis, Autoimmune hepatitis, Autoinflammation with episodic fever and immune dysregulation, Behcet disease and 15 more	immune response GO · q=5.90e-53
Cluster 22	19	Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Developmental delay, Developmental delay with hypotonia and impaired language, Developmental delay with variable neurological abnormalities and 14 more	Prion disease Pathway · q=3.41e-12
Cluster 23	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=8.15e-6
Cluster 24	19	Benign prostatic hyperplasia, Budd-chiari syndrome, Cerebral venous sinus thrombosis, Cervical polyp, Congenital factor v deficiency and 14 more	cardiac muscle cell differentiation GO · q=5.49e-4
Cluster 25	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=5.37e-11
Cluster 26	19	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 14 more	sensory perception of sound GO · q=3.61e-96
Cluster 27	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=2.35e-10
Cluster 28	19	Autoimmune lymphoproliferative disorder, autoimmune lymphoproliferative syndrome type 2A, bamforth-lazarus syndrome, Bladder cancer, ciliary dyskinesia, primary, 39 and 14 more	Apoptosis Pathway · q=1.28e-9
Cluster 29	18	Blood coagulation disorder, Cerebral hemorrhage, Disseminated intravascular coagulation, Fetal erythroblastosis, Hemophilia a and 13 more	blood coagulation GO · q=1.92e-60
Cluster 30	18	Bone dysplasia with increased bone density, Brain tumor-polyposis syndrome, Cenani-lenz syndrome, congenital myasthenic syndrome 17, Desmoid tumor and 13 more	Pathways in cancer Pathway · q=7.58e-13
Cluster 31	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=6.92e-10
Cluster 32	17	Abetalipoproteinemia, Carotid artery disease, Congenital hyperinsulinism, Diabetic ketoacidosis, Fanconi-bickel syndrome and 12 more	Maturity onset diabetes of the young Pathway · q=5.35e-16
Cluster 33	17	Angle closure glaucoma, Avascular necrosis of bone, Chromosome 5q deletion syndrome, congenital muscular dystrophy with intellectual disability and severe epilepsy, hereditary fructose intolerance and 12 more	response to hypoxia GO · q=4.10e-9
Cluster 34	17	Advanced sleep phase syndrome, Alpha-mannosidosis, Anencephaly, Aprosencephaly, Cobalamin c disease and 12 more	Cobalamin transport and metabolism Pathway · q=6.32e-26
Cluster 35	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=5.94e-15
Cluster 36	16	amyotrophic lateral sclerosis type 15, Brody myopathy, Cohen syndrome, fanconi anemia complementation group p, GPR161-related medulloblastoma predisposition and 11 more	pituitary gland development GO · q=4.02e-8
Cluster 37	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=3.48e-14
Cluster 38	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=1.72e-26
Cluster 39	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=2.35e-6
Cluster 40	16	CACNA2D4-related retinopathy, Central areolar choroidal dystrophy, Choroidal dystrophy, Choroidal sclerosis, Choroideremia and 11 more	visual perception GO · q=1.08e-16
Cluster 41	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=3.71e-20
Cluster 42	15	ALG9-associated autosomal dominant polycystic kidney disease, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Hyperuricemic nephropathy, Juvenile hyperuricemic nephropathy, Malignant hypertension and 10 more	kidney development GO · q=1.67e-16
Cluster 43	15	Beta thalassemia, Digenic hemochromatosis, Hemochromatosis, hemochromatosis type 1, hemochromatosis type 2A and 10 more	multicellular organismal-level iron ion homeostasis GO · q=2.05e-18
Cluster 44	15	Alport syndrome, Alport syndrome, x-linked, Collagen vi-related myopathy, Diaphragm disease, Diffuse mesangial sclerosis and 10 more	NCAM1 interactions Pathway · q=4.54e-9
Cluster 45	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=6.64e-71
Cluster 46	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=1.64e-20
Cluster 47	15	arrhythmogenic right ventricular dysplasia 5, Congenital small ears, dilated cardiomyopathy 1A, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Emery dreifuss muscular dystrophy and 10 more	Cytoskeleton in muscle cells Pathway · q=2.70e-5
Cluster 48	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=1.38e-4
Cluster 49	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=7.27e-15
Cluster 50	14	Ankylosis, Antley-bixler syndrome, Beare-stevenson cutis gyrata syndrome, Biliary tract neoplasms, Cardiofacial dysplasia and 9 more	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO · q=3.38e-4
Cluster 51	14	Antisocial personality disorder, Brunner syndrome, Colchicine resistance, Conduct disorder, Congenital dyserythropoietic anemia and 9 more	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO · q=3.53e-5
Cluster 52	13	11p partial monosomy syndrome, Ambiguous genitalia, Aniridia, Autoimmune nervous system disorder, Congenital aniridia and 8 more	anatomical structure morphogenesis GO · q=1.44e-8
Cluster 53	13	Cardiac valvular dysplasia, Conductive hearing loss, Congenital idiopathic intestinal pseudoobstruction, Congenital short bowel syndrome, Cystic fibrosis-related diabetes and 8 more	positive regulation of gene expression GO · q=1.63e-3
Cluster 54	13	B3GALT6-congenital disorder of glycosylation, Carpal tunnel syndrome, Congenital cartilage disorder, Copper metabolism disorder, Hoxha-aliu syndrome and 8 more	ECM proteoglycans Pathway · q=4.81e-10
Cluster 55	13	Aortic dissection, Aortic rupture, Arterial tortuosity syndrome, Atypical femoral fracture, Cutaneous polyarteritis nodosa and 8 more	elastic fiber assembly GO · q=1.48e-7
Cluster 56	13	Biliary tract cancer, Cardiofacio-neurodevelopmental syndrome, Cervical cancer, Endometrial cancer, Endometrial neoplasms and 8 more	cell division GO · q=8.71e-17
Cluster 57	13	Acetyl-coa carboxylase deficiency, Atherosclerosis, Cerebrovascular disorder, Erectile dysfunction, Heart disease and 8 more	positive regulation of gene expression GO · q=2.64e-21
Cluster 58	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=6.16e-6
Cluster 59	13	Acromesomelic dysplasia, Arthrogryposis-renal dysfunction-cholestasis syndrome, Congenital pectus carinatum, Congenital scoliosis, Coronary artery dissection and 8 more	Defective B3GALTL causes Peters-plus syndrome (PpS) Pathway · q=2.33e-7
Cluster 60	13	Adenomatous polyposis, Colorectal adenomatous polyposis, Congenital kidney anomaly, Focal cortical dysplasia, Folic acid deficiency and 8 more	Energy dependent regulation of mTOR by LKB1-AMPK Pathway · q=8.20e-6
Cluster 61	13	Congenital isolated acth deficiency, Cri-du-chat syndrome, Ductal carcinoma of breast, Duodenitis, dyskeratosis congenita, autosomal dominant 2 and 8 more	Gastric cancer Pathway · q=7.87e-7
Cluster 62	13	Anastomosing haemangioma, Aplasia cutis congenita with epibulbar dermoids, Arteriovenous malformations, Capillary malformation, Capillary malformation-arteriovenous malformation and 8 more	GnRH secretion Pathway · q=2.40e-6
Cluster 63	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=5.87e-5
Cluster 64	13	Aphasia, Cardiac tamponade, Commisural aphasia, cutis laxa, autosomal dominant 1, Dejerine-lichtheim phenomenon and 8 more	positive regulation of chronic inflammatory response to antigenic stimulus GO · q=4.89e-5
Cluster 65	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=2.12e-8
Cluster 66	13	Amino acid metabolism disorder, Argininosuccinic aciduria, Citrin deficiency, Citrullinemia, Cystathioninuria and 8 more	urea cycle GO · q=4.03e-14
Cluster 67	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=2.83e-11
Cluster 68	13	Anaplasia, Bladder disease, Childhood-onset glut1 deficiency syndrome 2, Choreoathetosis, Chromosome 17q23.1-q23.2 deletion syndrome and 8 more	Central carbon metabolism in cancer Pathway · q=7.88e-7
Cluster 69	13	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 8 more	Cross-presentation of particulate exogenous antigens (phagosomes) Pathway · q=4.50e-9
Cluster 70	13	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 8 more	atrioventricular canal development GO · q=1.25e-5
Cluster 71	12	Auditory perceptual disorder, Congenital hereditary endothelial dystrophy, Congenital stromal corneal dystrophy, Corneal dystrophy, Corneal endothelial dystrophy and 7 more	MET activates PTK2 signaling Pathway · q=7.72e-6
Cluster 72	12	Alcoholic hepatitis, ALG11-congenital disorder of glycosylation, Angina pectoris, Autoimmune uveitis, Cachexia and 7 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=1.08e-12
Cluster 73	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=4.92e-6
Cluster 74	12	Ankylosing spondylitis, Autoinflammatory disease, systemic, with vasculitis, Benign flecked retina, Crohn disease, Ehrlich tumor carcinoma and 7 more	immune response GO · q=4.61e-35
Cluster 75	12	3m syndrome, autosomal recessive cerebellar ataxia, Cayman type cerebellar ataxia, Cerebellar ataxia, Spastic ataxia and 7 more	Spinocerebellar ataxia Pathway · q=8.59e-13
Cluster 76	12	A4GALT-congenital disorder of glycosylation, Caffey disease, Cholangitis, COL1A1-related Ehlers-Danlos syndrome, Combined osteogenesis imperfecta and ehlers-danlos syndrome and 7 more	collagen fibril organization GO · q=2.20e-5
Cluster 77	12	Anhydramnios, autosomal recessive polycystic kidney disease, Biliary-renal-neuro-skeletal syndrome, Caroli disease, Congenital hypoplasia of aortic arch and 7 more	kidney development GO · q=8.14e-11
Cluster 78	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=8.29e-10
Cluster 79	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=1.55e-11
Cluster 80	12	Amish brittle hair brain syndrome, Cerebrooculofacioskeletal syndrome, Trichorrhexis nodosa syndrome, Trichothiodystrophy, Xeroderma pigmentosum and 7 more	Nucleotide excision repair Pathway · q=2.96e-17
Cluster 81	12	Carotid artery stenosis, Congenital plasminogen activator inhibitor deficiency type 1, Coronary restenosis, Fabry disease, homocystinuria due to methylene tetrahydrofolate reductase deficiency and 7 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=1.37e-6
Cluster 82	12	Anterior cruciate ligament injury, Arginase deficiency, Congenital hereditary facial paralysis with variable hearing loss syndrome, Constipation, Eye pain and 7 more	positive regulation of chemokine production GO · q=5.48e-5
Cluster 83	12	Aplastic anemia, Dyskeratosis congenita, dyskeratosis congenita and related telomere biology disorder, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3 and 7 more	Telomere Extension By Telomerase Pathway · q=3.40e-17
Cluster 84	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=2.32e-12
Cluster 85	12	Asymmetric septal hypertrophy, Biventricular noncompaction cardiomyopathy, Camptocormia, Coronary stenosis, dilated cardiomyopathy 1S and 7 more	cardiac muscle contraction GO · q=1.45e-8
Cluster 86	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=9.38e-4
Cluster 87	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=1.82e-5
Cluster 88	12	Autoinflammation, panniculitis, and dermatosis syndrome, Bilateral microphthalmos, Calcium metabolism disorders, Calcium pyrophosphate deposition, Chondrocalcinosis and 7 more	Gap junction assembly Pathway · q=2.35e-4
Cluster 89	12	Cerebral embolism, Hypercalcemia, Hypercalciuria, Idiopathic infantile hypercalcemia, Infertility and 7 more	Parathyroid hormone synthesis, secretion and action Pathway · q=8.17e-8
Cluster 90	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=7.47e-4
Cluster 91	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=2.35e-4
Cluster 92	11	22q11 deletion syndrome, ciliary dyskinesia, primary, 46, Congenital heart malformation, Gastrointestinal stromal tumor, Holoprosencephaly and 6 more	smoothened signaling pathway GO · q=5.16e-40
Cluster 93	11	Bulimia, Childhood myocerebrohepatopathy spectrum, Dysphonia, fanconi anemia complementation group i, Intermittent explosive disorder and 6 more	mitochondrial DNA replication GO · q=1.86e-8
Cluster 94	11	Biotinidase deficiency, Brachydactyly, Brachydactyly-syndactyly syndrome, Brachymesophalangy, Cryptorchidism and 6 more	chondrocyte differentiation GO · q=8.15e-8
Cluster 95	11	Hyperthermia, Hypochromic anemia, Hypochromic microcytic anemia, Hypochromic sideroblastic anemia, IRIDA syndrome and 6 more	intracellular iron ion homeostasis GO · q=3.84e-14
Cluster 96	11	Abcd syndrome, Central precocious puberty, Craniofacial deafness hand syndrome, Intestinal aganglionosis, Kleins syndrome and 6 more	melanocyte differentiation GO · q=2.02e-6
Cluster 97	11	Alexander disease, Combined psap deficiency, Combined saposin deficiency, Gaucher disease, Gaucher disease due to saposin C deficiency and 6 more	sensory perception of light stimulus GO · q=1.98e-12
Cluster 98	11	Angiofollicular ganglionic hyperplasia, Angiolymphoid hyperplasia, Castleman disease, Cerebellar vermis atrophy, Cerebral arteriovenous malformations and 6 more	Endocrine resistance Pathway · q=4.33e-6
Cluster 99	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=4.47e-8
Cluster 100	11	Aminoaciduria, Developmental delay with immunodeficiency syndrome, Endocrine system disease, Hepatic insufficiency, Hepatomegaly and 6 more	Pathways in cancer Pathway · q=1.05e-13
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=2.62e-15
Cluster 102	11	Bradyopsia, Chiari-frommel syndrome, Delirium, Disruptive impulse-control and conduct disorder, Dyskinesia, drug-induced and 6 more	Hormone signaling Pathway · q=1.46e-14
Cluster 103	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=3.00e-11
Cluster 104	11	autosomal systemic lupus erythematosus type 16, Crest syndrome, Dermatomyositis, Diffuse cutaneous systemic sclerosis, immunodeficiency 25 and 6 more	Inflammatory bowel disease Pathway · q=3.81e-17
Cluster 105	11	Cerebral microangiopathy, COL4A1-related disorder, Colpocephaly, Congenital hypogonadotropic hypogonadism, Dementia in huntington’s disease and 6 more	telencephalon regionalization GO · q=1.52e-3
Cluster 106	11	Anemia, x-linked, Congenital erythropoietic porphyria, Cutaneous porphyria, Dyserythropoietic anemia with abnormal platelets and neutropenia, Dyserythropoietic anemia with thrombocytopenia and 6 more	heme B biosynthetic process GO · q=7.41e-23
Cluster 107	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=2.56e-13
Cluster 108	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=1.15e-3
Cluster 109	11	ciliary dyskinesia, primary, 47, and lissencephaly, Constitutional mismatch repair deficiency, Cystic leukoencephalopathy, Fanconi anemia complementation group U, Hereditary breast cancer and 6 more	DNA damage response GO · q=2.05e-27
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=9.80e-13
Cluster 111	10	Angelman syndrome, Bruxism, CDKL5 disorder, Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia, Congenital retinal aneurysm and 5 more	synaptic transmission, GABAergic GO · q=3.19e-5
Cluster 112	10	Chromosome 15q deletion syndrome, Congenital heart defects, Congenital heart disease, Conotruncal cardiac defect, Craniofacial abnormalities and 5 more	heart development GO · q=3.33e-47
Cluster 113	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=1.20e-4
Cluster 114	10	Avoidant restrictive food intake disorder, Bile duct calculus, Cavitary optic disc anomalies, Cavitary optic disk anomaly, Delayed sleep phase syndrome and 5 more	axonogenesis involved in innervation GO · q=4.72e-5
Cluster 115	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=6.72e-5
Cluster 116	10	Apert syndrome, Cataract-intellectual disability-hypogonadism syndrome, Congenital malformation syndromes predominantly affecting facial appearance, Cryptophthalmos syndrome, Cyclocephaly and 5 more	branching involved in salivary gland morphogenesis GO · q=1.12e-4
Cluster 117	10	Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Desbuquois syndrome, ehlers-danlos syndrome, spondylodysplastic type, 1, Larsen syndrome and 5 more	skeletal system development GO · q=4.50e-57
Cluster 118	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=6.03e-33
Cluster 119	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=3.42e-4
Cluster 120	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=5.45e-7
Cluster 121	10	Bronchopulmonary dysplasia, Chronic obstructive pulmonary disease, Cystic fibrosis, Emphysema, Genetic generalized epilepsy and 5 more	inflammatory response GO · q=1.31e-23
Cluster 122	10	Amnesia, Bradycardia, Catalepsy, Edema, Hyperalgesia and 5 more	Neuroactive ligand-receptor interaction Pathway · q=1.43e-40
Cluster 123	10	Becker muscular dystrophy, Benign congenital myopathy, Clinodactyly, Duchenne muscular dystrophy, Dystrophinopathy and 5 more	Dilated cardiomyopathy Pathway · q=2.70e-3
Cluster 124	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=6.11e-4
Cluster 125	10	Arterial occlusive disease, Asthenozoospermia, Brain edema, Cardiac injury, Cholesterol embolism and 5 more	response to hypoxia GO · q=5.31e-5
Cluster 126	10	Anemia, Bisphosphoglycerate mutase deficiency, Charcot-Marie-Tooth disease type 4B2, Coronary vessel anomalies, Erythrocytosis and 5 more	multicellular organismal-level iron ion homeostasis GO · q=4.06e-14
Cluster 127	10	Binocular vision disease, Brachycephaly, Coronal craniosynostosis, duane retraction syndrome 2, Extraskeletal myxoid chondrosarcoma and 5 more	Wnt signaling pathway GO · q=1.08e-6
Cluster 128	10	Dacryocystitis, Dysthymic disorder, Early-onset obesity-hyperphagia-severe developmental delay syndrome, ectodermal dysplasia and immunodeficiency 2, Exanthema and 5 more	Alcoholic liver disease Pathway · q=8.99e-4
Cluster 129	10	Anovulation, autosomal dominant osteopetrosis 2, autosomal recessive osteopetrosis 4, autosomal recessive osteopetrosis 5, autosomal recessive osteopetrosis 8 and 5 more	osteoclast differentiation GO · q=2.46e-9
Cluster 130	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=4.26e-7
Cluster 131	10	Atrial standstill, Cardiac rhythm disease, dilated cardiomyopathy 1E, Ectopic rhythm, Hypercapnia and 5 more	regulation of heart rate by cardiac conduction GO · q=4.07e-8
Cluster 132	10	Autoinflammation, immune dysregulation, and eosinophilia, BARD1-related cancer predisposition, BRCA1-related cancer predisposition, Breast implant-associated anaplastic large cell lymphoma, Fanconi anemia and 5 more	DNA repair GO · q=2.66e-38
Cluster 133	10	Blast crisis, Bloom syndrome, Chromosome 22q11.2 microdeletion syndrome, Hodgkin disease, Hyper-igm immunodeficiency syndrome and 5 more	Primary immunodeficiency Pathway · q=2.40e-8
Cluster 134	10	Bone mineral density quantitative trait locus, Camurati-engelmann syndrome, LRP5-related exudative vitreoretinopathy, Osteopetrosis and infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration and 5 more	Negative regulation of TCF-dependent signaling by WNT ligand antagonists Pathway · q=4.49e-4
Cluster 135	9	Azoospermia, Congenital alpha-fetoprotein deficiency, Cryptospermia, Male infertility, Male infertility single gene azoospermia and 4 more	spermatogenesis GO · q=3.35e-58
Cluster 136	9	17q12 microdeletion syndrome, Bilateral multicystic dysplastic kidney, Giant cell tumor of tendon sheath, Mayer-rokitansky-kuster-hauser syndrome, Multicystic dysplastic kidney and 4 more	pronephros development GO · q=7.11e-9
Cluster 137	9	Mucopolysaccharidosis, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 3B, mucopolysaccharidosis type 3C, mucopolysaccharidosis type 3D and 4 more	Glycosaminoglycan degradation Pathway · q=6.04e-24
Cluster 138	9	Adenosine deaminase 2 deficiency, Cardiovascular abnormalities, Deafness-lymphedema-leukemia syndrome, Gata2 deficiency, nephronophthisis 16 and 4 more	heart development GO · q=1.70e-7
Cluster 139	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=3.73e-11
Cluster 140	9	ABCA4-related retinopathy, Atrophic retina, Bietti crystalline corneoretinal dystrophy, Cleft palate proliferative retinopathy developmental delay, Diastolic heart failure and 4 more	Norrin signaling pathway GO · q=1.40e-4
Cluster 141	9	Autoinflammatory syndrome, familial, behcet-like, developmental and epileptic encephalopathy, 41, Dry eye syndrome, Kawasaki disease, Myositis and 4 more	Inflammatory bowel disease Pathway · q=1.13e-18
Cluster 142	9	Autoimmune disease, Autoimmune thyroid disease, Autoinflammation with pulmonary and cutaneous vasculitis, Celiac disease, Common variable immunodeficiency and 4 more	immune response GO · q=3.74e-33
Cluster 143	9	Acrocapitofemoral dysplasia, Cernunnos-XLF deficiency, Diencephalic mesencephalic junction dysplasia, Exudative retinopathy, Exudative vitreoretinopathy and 4 more	embryonic digit morphogenesis GO · q=1.10e-11
Cluster 144	9	Acrokeratosis verruciformis, adult neuronal ceroid lipofuscinosis, Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome, Diabetic cardiomyopathy, Distal anoctaminopathy and 4 more	lysosome organization GO · q=1.78e-8
Cluster 145	9	Angiokeratoma, Cavernous malformations of cns, Cerebral cavernous malformation, Congenital cerebral aneurysm, Congenital malformation of cerebral vessels and 4 more	angiogenesis GO · q=3.84e-6
Cluster 146	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=5.63e-5
Cluster 147	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=8.96e-11
Cluster 148	9	Branchial arch abnormalities syndrome, Branchial cleft anomalies, Burn-mckeown syndrome, Choanal atresia syndrome, Duane-radial ray syndrome and 4 more	beta-catenin-TCF complex assembly GO · q=1.22e-2
Cluster 149	9	Bnar syndrome, Craniofaciosynostosis, Encephalocraniocutaneous lipomatosis, Eosinophilic leukemia, Hartsfield-Bixler-Demyer syndrome and 4 more	Central carbon metabolism in cancer Pathway · q=8.70e-6
Cluster 150	9	Clonal hematopoiesis, hypotaurinemic retinal degeneration and cardiomyopathy, immunodeficiency, common variable, 14, Leukemia, Myelodysplastic syndrome and 4 more	Pathways in cancer Pathway · q=3.07e-27
Cluster 151	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=1.83e-4
Cluster 152	9	Breast fibrocystic disease, Congenital hernia of foramen of bochdalek, Eyelid disease, Inflammatory demyelinating polyneuropathy, Neuropathy and 4 more	ureteric bud development GO · q=1.27e-4
Cluster 153	9	Anorexia, Congestive ophthalmopathy, Graft-versus-host disease, Granulomatosis with polyangiitis, Graves ophthalmopathy and 4 more	immune response GO · q=3.38e-23
Cluster 154	9	Danon disease, Dimauro disease, Glycogen storage disease, glycogen storage disease due to muscle and heart glycogen synthase deficiency, glycogen storage disease III and 4 more	glycogen metabolic process GO · q=2.94e-23
Cluster 155	9	Afibrinogenemia, Congenital afibrinogenemia, Congenital fibrinogen deficiency, Congenital hypofibrinogenemia, Cor pulmonale and 4 more	hemostasis GO · q=1.64e-20
Cluster 156	9	Aica-ribosiduria, AIPL1-related retinopathy, Blindness, Congenital blindness, Congenital nystagmus and 4 more	visual perception GO · q=5.64e-15
Cluster 157	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=7.62e-32
Cluster 158	9	Bone disease, Bone fracture, Childhood hypophosphatasia, Dupuytren contracture, Hypophosphatasia and 4 more	canonical Wnt signaling pathway GO · q=7.66e-10
Cluster 159	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=2.67e-6
Cluster 160	9	Conjunctivitis, Developmental delay with autism spectrum disorder, FAS-related autoimmune lymphoproliferative immune disorder, hypoplasminogenemia, Laryngeal disease and 4 more	positive regulation of nitric oxide biosynthetic process GO · q=1.47e-6
Cluster 161	9	bleeding disorder, platelet-type, 22, inherited blood coagulation disorder, Macrothrombocytopenia, macrothrombocytopenia, isolated, 1, autosomal dominant, nizon-isidor syndrome and 4 more	Platelet activation Pathway · q=2.67e-17
Cluster 162	9	Auriculocondylar syndrome, Cataract-corneal dystrophy syndrome, Ehlers-Danlos syndrome, spondylocheirodysplastic type, Optic nerve disorder, Paranoid schizophrenia and 4 more	animal organ morphogenesis GO · q=1.09e-5
Cluster 163	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=9.32e-7
Cluster 164	9	Anti-glomerular basement membrane disease, Aortic arch syndrome, Autoimmune pulmonary alveolar proteinosis, Congenital pulmonary artery atresia, Follicular lymphoma and 4 more	Autoimmune thyroid disease Pathway · q=4.26e-9
Cluster 165	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=9.55e-6
Cluster 166	9	Erythematosquamous dermatosis, Ichthyosis vulgaris, intellectual developmental disorder 59, nephrotic syndrome 14, netherton syndrome and 4 more	melanin biosynthetic process from tyrosine GO · q=9.65e-5
Cluster 167	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=1.75e-2
Cluster 168	9	Chronic pain, Congenital insensitivity to pain, Congenital pain insensitivity, Episodic pain syndrome, Erythromelalgia and 4 more	sensory perception of pain GO · q=2.69e-9
Cluster 169	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=1.20e-4
Cluster 170	9	Congenital leukocyte adherence deficiency, Congenital sensory neuropathy, Cyp2d6 deficiency, Laryngo-onycho-cutaneous syndrome, Leukocyte adhesion deficiency and 4 more	nerve growth factor signaling pathway GO · q=3.26e-5
Cluster 171	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=3.27e-4
Cluster 172	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=8.89e-10
Cluster 173	9	Hereditary sensory and autonomic neuropathy, hereditary sensory and autonomic neuropathy type 4, Hereditary sensory and autonomic neuropathy with spastic paraplegia, neuropathy, hereditary sensory and autonomic, type 1A, neuropathy, hereditary sensory and autonomic, type 1C and 4 more	sensory perception of pain GO · q=5.65e-7
Cluster 174	9	Childhood ataxia with cns hypomyelination, Congenital or early infantile cach syndrome, Cree leukoencephalopathy, leukoencephalopathy with vanishing white matter 1, leukoencephalopathy with vanishing white matter 2 and 4 more	Recycling of eIF2:GDP Pathway · q=2.08e-13
Cluster 175	9	Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum, Dwarfism, Ear, patella, short stature syndrome, Meier-gorlin syndrome, meier-gorlin syndrome 2 and 4 more	Activation of the pre-replicative complex Pathway · q=2.77e-18
Cluster 176	9	Combined cellular and humoral immune defects with granulomas, Combined immunodeficiency with granulomatosis, Combined immunodeficiency with skin granulomas, free sialic acid storage disease, Omenn syndrome and 4 more	T cell differentiation in thymus GO · q=3.84e-11
Cluster 177	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=4.88e-22
Cluster 178	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=1.34e-13
Cluster 179	8	3-hydroxyisobutyric aciduria, Bladder calculus, Dalmatian hypouricemia, Hyperuricemia, Nephrolithiasis and 3 more	urate metabolic process GO · q=3.91e-6
Cluster 180	8	1p21.3 microdeletion syndrome, Anal polyp, Chromosome 2p16.3 deletion syndrome, Dihydropyrimidinase deficiency, Dihydropyrimidine dehydrogenase deficiency and 3 more	adult behavior GO · q=2.81e-7
Cluster 181	8	Bile acid malabsorption, Central nervous system disease, Choroidal neovascularization, Diabetes complications, Diabetes microvascular complications and 3 more	intrinsic apoptotic signaling pathway in response to DNA damage GO · q=1.23e-5
Cluster 182	8	Agammaglobulinemia, agammaglobulinemia 10, autosomal dominant, agammaglobulinemia 2, autosomal recessive, agammaglobulinemia 3, autosomal recessive, agammaglobulinemia 4, autosomal recessive and 3 more	B cell differentiation GO · q=1.19e-8
Cluster 183	8	Aapoai amyloidosis, Apolipoprotein a-i amyloidosis, Apolipoprotein a-i deficiency, Ataxia with vitamin e deficiency, hypercholesterolemia, autosomal dominant, 3 and 3 more	Cholesterol metabolism Pathway · q=8.91e-9
Cluster 184	8	Amyloid polyneuropathy, Dystransthyretinemic euthyroidal hyperthyroxinemia, Hyperthyroxinemia, obsolete hereditary ATTR amyloidosis, Senile systemic amyloidosis and 3 more	HDL remodeling Pathway · q=2.31e-4
Cluster 185	8	Annular epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma, Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic hyperkeratosis, Epidermolytic ichthyosis and 3 more	response to oxidative stress GO · q=4.85e-8
Cluster 186	8	Achondrogenesis, Atelosteogenesis, De la chapelle dysplasia, Diastrophic dysplasia, Diastrophic dysplasia, broad bone-platyspondylic variant and 3 more	chondrocyte differentiation GO · q=2.18e-3
Cluster 187	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=1.93e-3
Cluster 188	8	ACTB-associated syndromic thrombocytopenia, Aminoacylase deficiency, Baraitser-winter cerebrofrontofacial syndrome, Becker nevus syndrome, Congenital smooth muscle hamartoma and 3 more	EPHB-mediated forward signaling Pathway · q=7.91e-5
Cluster 189	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 190	8	Atypical teratoid rhabdoid tumor, Carotid atherosclerosis, Coffin-siris syndrome, Rhabdoid tumor, Rhabdoid tumor predisposition syndrome and 3 more	regulation of G0 to G1 transition GO · q=3.25e-20
Cluster 191	8	Alternating hemiplegia of childhood, Anhedonia, ATP1A3-associated neurological disorder, Capos syndrome, Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss and 3 more	response to cocaine GO · q=5.37e-7
Cluster 192	8	Cone-rod synaptic disorder, Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency, GPR143-related foveal hypoplasia, hermansky-pudlak syndrome 10, Ocular albinism and 3 more	melanosome organization GO · q=1.43e-3
Cluster 193	8	Atrial and intestinal dysrhythmia, Chronobiology disorder, Hyperoxia, Patent ductus venosus, Pruritus and 3 more	Neuroactive ligand-receptor interaction Pathway · q=1.93e-6
Cluster 194	8	Androgen insensitivity syndrome, b-cell immunodeficiency, distal limb anomalies, and urogenital malformations, Bulbo-spinal atrophy, x-linked, Kennedy disease, Male breast neoplasms and 3 more	Pathways in cancer Pathway · q=4.78e-6
Cluster 195	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=8.07e-4
Cluster 196	8	Angiomatoid fibrous histiocytoma, bleeding disorder, platelet-type, 21, Congenital left-sided heart lesions, Ewing sarcoma, Extraskeletal ewing sarcoma and 3 more	cAMP/PKA signal transduction GO · q=6.38e-5
Cluster 197	8	Brain small vessel disease, Cerebral palsy, Cerebral small vessel disease, Congenital porencephaly, Ectopic thyroid tissue and 3 more	cardiac myofibril assembly GO · q=6.43e-4
Cluster 198	8	East syndrome, Episodic kinesigenic dyskinesia, Hereditary continuous muscle fiber activity, Littles disease, Paroxysmal dyskinesia and 3 more	synaptic vesicle maturation GO · q=7.66e-4
Cluster 199	8	Arthrogryposis, childhood-onset nemaline myopathy, Congenital finger flexion contractures, Digitotalar dysmorphism, Distal arthrogryposis and 3 more	Striated Muscle Contraction Pathway · q=6.68e-13
Cluster 200	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=8.22e-6
Cluster 201	8	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 3 more	involuntary skeletal muscle contraction GO · q=1.09e-2
Cluster 202	8	Atrophy, Copper overload cirrhosis, hyper-IgE recurrent infection syndrome 1, autosomal dominant, Hyper-ige syndrome, Hyper-immunoglobulin e syndrome and 3 more	Proteoglycans in cancer Pathway · q=6.04e-9
Cluster 203	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=3.89e-7
Cluster 204	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=9.64e-3
Cluster 205	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=5.49e-8
Cluster 206	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=2.91e-4
Cluster 207	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=3.54e-6
Cluster 208	8	Blue cone monochromatism, Cone dystrophy, x-linked, Cone monochromatism, Deuteranomaly, red color blindness and 3 more	absorption of visible light GO · q=9.17e-12
Cluster 209	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=3.38e-4
Cluster 210	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=1.86e-10
Cluster 211	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=7.22e-7
Cluster 212	8	Cerebelloparenchymal disorder, Lactic acidosis, Normal pressure hydrocephalus, primary ciliary dyskinesia, Ptosis and 3 more	cilium movement involved in cell motility GO · q=6.49e-7
Cluster 213	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=7.18e-3
Cluster 214	8	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, encephalopathy, progressive, with amyotrophy and optic atrophy, Kenny caffey syndrome, Kenny-caffey syndrome and 3 more	post-chaperonin tubulin folding pathway GO · q=9.72e-5
Cluster 215	7	Congenital cataract hearing loss developmental delay syndrome, developmental and epileptic encephalopathy, 77, Epilepsy, Generalized epilepsy, Partial epilepsy and 2 more	chemical synaptic transmission GO · q=4.57e-34
Cluster 216	7	Adrenal gland neoplasms, Cobblestone lissencephaly, Corneal disease, Corneal edema, Paranoia and 2 more	MET activates PTK2 signaling Pathway · q=1.89e-3
Cluster 217	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=8.31e-3
Cluster 218	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=6.74e-9
Cluster 219	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=1.46e-7
Cluster 220	7	Cholelithiasis, Hyperbiliverdinemia, hyperphenylalaninemia due to DNAJC12 deficiency, Liver cirrhosis, Liver disease and 2 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=7.22e-25
Cluster 221	7	Alys amyloidosis, Amyloidosis, amyloidosis, hereditary systemic 6, Beta2-microglobulinic amyloidosis, Hypergammaglobulinemia and 2 more	Amyloid fiber formation Pathway · q=4.67e-10
Cluster 222	7	Abeta amyloidosis, Amyloid angiopathy, Amyloid neuropathy, cerebral amyloid angiopathy, app-related, Early onset alzheimers disease with behavioral disturbance and 2 more	astrocyte activation involved in immune response GO · q=2.26e-5
Cluster 223	7	Absence epilepsy, Ataxia, Childhood absence epilepsy, Conn syndrome, Idiopathic generalized epilepsy and 2 more	monoatomic ion transport GO · q=5.84e-20
Cluster 224	7	Cranio-cervical dystonia, Dravet syndrome, Febrile convulsion, Female restricted epilepsy with intellectual disability, Generalized epilepsy with febrile seizures plus and 2 more	monoatomic ion transmembrane transport GO · q=3.37e-11
Cluster 225	7	Aceruloplasminemia, Apoceruloplasmin deficiency, Ferroxidase deficiency, hemochromatosis type 4, Hemosiderosis and 2 more	intracellular iron ion homeostasis GO · q=3.74e-11
Cluster 226	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=2.56e-9
Cluster 227	7	Acromegaloid facial appearance syndrome, Cantu syndrome, dilated cardiomyopathy 1O, Hypertrichosis, hypertrichotic osteochondrodysplasia Cantu type and 2 more	ATP sensitive Potassium channels Pathway · q=5.64e-7
Cluster 228	7	Acromegaly, Chromosome xq26.3 duplication syndrome, Growth hormone-secreting pituitary adenoma, multiple endocrine neoplasia type 1, Pituitary adenoma and 2 more	adenylate cyclase-activating adrenergic receptor signaling pathway GO · q=5.66e-4
Cluster 229	7	Alagille syndrome, Corneal opacity, Deafness with congenital heart defects and posterior embryotoxon, Eye abnormalities, frank-ter haar syndrome and 2 more	Pathways in cancer Pathway · q=4.66e-6
Cluster 230	7	Cutaneous mastocytosis, Intellectual developmental disorder growth seizures, isovaleric acidemia, Mastocytosis, Secondary malignant neoplasm and 2 more	'de novo' UMP biosynthetic process GO · q=1.34e-5
Cluster 231	7	Auricle malformation, Degcags syndrome, Diamond-blackfan anemia, diamond-blackfan anemia 6, Erythroid hypoplasia and 2 more	cytoplasmic translation GO · q=2.80e-35
Cluster 232	7	Adenosine kinase deficiency, Glycine n-methyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency, hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, methionine adenosyltransferase deficiency and 2 more	one-carbon metabolic process GO · q=8.91e-7
Cluster 233	7	Adenylosuccinate lyase deficiency, Cholecystitis, Cholecystolithiasis, cone-rod dystrophy 20, Gallstones and 2 more	Bile secretion Pathway · q=1.81e-18
Cluster 234	7	Cerebellar atrophy, Congenital cataract microcephaly intellectual disability syndrome, Congenital cerebellar hypoplasia, Dysarthria, Polyneuropathy and 2 more	response to hyperoxia GO · q=6.22e-4
Cluster 235	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=7.51e-8
Cluster 236	7	Aicardi goutieres syndrome, Chilblain lupus, Chilblain lupus erythematosus, Deoxyguanosine kinase deficiency, Interferonopathy and 2 more	mismatch repair GO · q=5.17e-7
Cluster 237	7	Aland island eye disease, CACNA1F-related retinopathy, Ciliary dyskinesia with retinitis pigmentosa, Cone-rod dystrophy, x-linked, Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness and 2 more	visual perception GO · q=3.80e-3
Cluster 238	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=1.10e-8
Cluster 239	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=2.11e-4
Cluster 240	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=2.99e-6
Cluster 241	7	Congenital nemaline myopathy, Nemaline myopathy, nemaline myopathy 10, nemaline myopathy 6, nemaline myopathy 7 and 2 more	Cytoskeleton in muscle cells Pathway · q=1.00e-12
Cluster 242	7	Bilateral vestibulopathy, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia, Cerebellar ataxia, neuropathy, and vestibular areflexia, Charcot-Marie-Tooth disease type 4, Hereditary sensory and motor neuropathy and 2 more	EGR2 and SOX10-mediated initiation of Schwann cell myelination Pathway · q=1.22e-7
Cluster 243	7	ALS2-related motor neuron disease, Beta-mannosidosis, glutaryl-CoA dehydrogenase deficiency, hawkinsinuria, Hypertyrosinemia and 2 more	Tyrosine catabolism Pathway · q=2.82e-7
Cluster 244	7	Comp-related skeletal dysplasia, Epiphyseal dysplasia, Laryngeal hypoplasia, Marshall syndrome, Stickler syndrome and 2 more	Collagen biosynthesis and modifying enzymes Pathway · q=4.63e-14
Cluster 245	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=2.65e-8
Cluster 246	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=2.57e-3
Cluster 247	7	anterior segment dysgenesis 4, Axenfeld anomaly, Axenfeld-rieger syndrome, FOXC1-related anterior segment dysgenesis, Iridogoniodysgenesis and 2 more	brain development GO · q=8.10e-5
Cluster 248	7	Anisometropia, Concussion, Lipomatosis, maturity-onset diabetes of the young type 8, PTEN hamartoma tumor syndrome and 2 more	DNA damage checkpoint signaling GO · q=4.62e-3
Cluster 249	7	Anonychia, Bent bone dysplasia, Campomelic dysplasia, Camptomelic dysplasia, Cooks syndrome and 2 more	prostate gland morphogenesis GO · q=7.40e-5
Cluster 250	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=2.10e-18
Cluster 251	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=6.32e-3
Cluster 252	7	Beckwith-wiedemann syndrome, Childhood apraxia of speech, Chorioretinal atrophy, Chromosomal disorder, Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome and 2 more	insulin-like growth factor receptor signaling pathway GO · q=8.97e-6
Cluster 253	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=8.77e-3
Cluster 254	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=7.26e-22
Cluster 255	7	arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Carvajal syndrome, Erythrokeratodermia-cardiomyopathy syndrome, Lethal acantholytic epidermolysis bullosa, Naxos disease and 2 more	regulation of ventricular cardiac muscle cell action potential GO · q=3.16e-7
Cluster 256	7	Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Bockenheimer syndrome, Congenital venous anomaly, Mucocutaneous venous malformations and 2 more	Tie2 Signaling Pathway · q=1.90e-5
Cluster 257	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=7.53e-7
Cluster 258	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=2.53e-4
Cluster 259	7	Epilepsy with auditory features, Familial temporal lobe epilepsy, Lateral temporal lobe epilepsy, lissencephaly with cerebellar hypoplasia, Sacroiliac arthritis and 2 more	Neuroactive ligand-receptor interaction Pathway · q=2.74e-12
Cluster 260	7	Benign samaritan congenital myopathy, Central core disease, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia and 2 more	cellular response to caffeine GO · q=3.21e-5
Cluster 261	7	Bernard-soulier syndrome, Cerebral thrombosis, hereditary von Willebrand disease, Intracranial thrombosis, platelet-type bleeding disorder 8 and 2 more	blood coagulation GO · q=3.58e-19
Cluster 262	7	Carnitine acetyltransferase deficiency, Hallervorden spatz syndrome, hereditary spastic paraplegia 35, kufor-rakeb syndrome, Neurodegeneration with brain iron accumulation and 2 more	intracellular iron ion homeostasis GO · q=5.22e-5
Cluster 263	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=3.27e-3
Cluster 264	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=2.10e-4
Cluster 265	7	Birk-barel syndrome, cataract 50 with or without glaucoma, Cataract-glaucoma syndrome, Congenital cataract anterior segment dysgenesis syndrome, Mulibrey nanism and 2 more	regulation of interleukin-1 production GO · q=1.50e-2
Cluster 266	7	Bleeding esophageal varices, Dyshidrosis, Esophageal and gastric varices, Esophageal varices, Portal hypertension and 2 more	negative regulation of cell-cell adhesion GO · q=5.37e-3
Cluster 267	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=8.87e-3
Cluster 268	7	Blepharophimosis-ptosis-epicanthus inversus syndrome, Dicer1 syndrome, Dicer1 tumor-predisposition syndrome, Dicer1-related tumor predisposition, Granulosa cell tumor of ovary and 2 more	apoptotic DNA fragmentation GO · q=9.27e-5
Cluster 269	7	Bronchiectasis, congenital disorder of glycosylation, type 2v, Liddle syndrome, pseudohypoaldosteronism type 2D, pseudohypoaldosteronism type 2E and 2 more	multicellular organismal-level water homeostasis GO · q=3.50e-7
Cluster 270	7	Cataract-microcornea-metabolic syndrome, Cleft eyelid, Coloboma, Congenital iris coloboma, Congenital ocular coloboma and 2 more	eye development GO · q=2.21e-6
Cluster 271	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=3.47e-7
Cluster 272	7	Donohue syndrome, Insulin resistant diabetes mellitus, Insulin resistant diabetes mellitus with acanthosis nigricans, insulin-resistance syndrome type A, Insulin-resistant diabetes mellitus with acanthosis nigricans and 2 more	glucose homeostasis GO · q=1.86e-3
Cluster 273	7	Chronic infantile diarrhea due to guanylate cyclase 2c overactivity, Congenital chloride diarrhea, Congenital chronic diarrhea with protein-losing enteropathy, Congenital diarrhea, Congenital secretory diarrhea and 2 more	Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) Pathway · q=1.21e-2
Cluster 274	7	Intestinal pseudo-obstruction, Megacystis microcolon intestinal hypoperistalsis syndrome, microcephaly with lissencephaly and/or hydranencephaly, Microhydranencephaly, Tricuspid valve disease and 2 more	Smooth Muscle Contraction Pathway · q=2.01e-7
Cluster 275	7	ciliary dyskinesia, primary, 45, Congenital impairment of spermatozoa motility, Male infertility teratozoospermia, Ruijs-aalfs syndrome, spermatogenic failure 38 and 2 more	sperm axoneme assembly GO · q=1.45e-16
Cluster 276	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=9.03e-4
Cluster 277	7	Corpus callosum agenesis with facial anomalies and cerebellar ataxia, Craniofacial microsomia, Deafness with congenital inner ear agenesis, microtia, and microdontia, Deafness with labyrinthine aplasia, microtia, and microdontia, Intestinal dysmotility syndrome and 2 more	protein localization to membrane GO · q=7.07e-3
Cluster 278	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=7.07e-3
Cluster 279	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=2.70e-6
Cluster 280	7	Erythrocyte galactose epimerase deficiency, Erythrocyte udp-galactose-4-epimerase deficiency, galactose epimerase deficiency, Galactose mutarotase deficiency, Galactosemia and 2 more	galactose catabolic process via UDP-galactose, Leloir pathway GO · q=7.36e-13
Cluster 281	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=4.48e-7
Cluster 282	6	acute myeloid leukemia, ciliary dyskinesia, primary, 44, hearing loss, autosomal recessive, Hoarding disorder, Pericarditis and 1 more	sensory perception of sound GO · q=9.95e-3
Cluster 283	6	12q14 microdeletion syndrome, Buschke-ollendorff syndrome, Dermatofibrosis lenticularis disseminata, Osteopoikilosis, qualitative platelet defect and 1 more	mesodermal-endodermal cell signaling GO · q=8.02e-3
Cluster 284	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=1.41e-4
Cluster 285	6	Congenital retrognathism, greenberg dysplasia, Pelger-huet anomaly, regressive spondylometaphyseal dysplasia, Reynolds syndrome and 1 more	face morphogenesis GO · q=2.19e-3
Cluster 286	6	Adult myoclonic epilepsy, Benign adult familial myoclonic epilepsy, Benign myoclonic epilepsy, Early onset epilepsy with developmental delay, Familial adult myoclonic epilepsy and 1 more	monoatomic ion transmembrane transport GO · q=2.68e-6
Cluster 287	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=1.39e-4
Cluster 288	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=4.94e-3
Cluster 289	6	Berylliosis, Cervical disc degenerative disorder, Gouty arthritis, Intervertebral disc disease, Trigeminal neuralgia and 1 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=3.80e-13
Cluster 290	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=2.09e-6
Cluster 291	6	Autoinflammatory-pancytopenia syndrome, Diabetes mellitus type 1, Hypothyroidism, Rheumatoid arthritis, Sarcoidosis and 1 more	immune response GO · q=8.68e-29
Cluster 292	6	Apolipoprotein c-ii deficiency, Arteriosclerosis, Corneal injury, Hypercholesterolemia, hypercholesterolemia, familial, 4 and 1 more	cholesterol homeostasis GO · q=8.68e-29
Cluster 293	6	Autism, x-linked, Benign paroxysmal torticollis of infancy, Bulbar palsy, Central apnea, Episodic ataxia and 1 more	chemical synaptic transmission GO · q=2.72e-6
Cluster 294	6	Acatalasia, amyotrophic lateral sclerosis type 1, Aortic disease, Bonnevie-ullrich syndrome, Turner syndrome and 1 more	Detoxification of Reactive Oxygen Species Pathway · q=7.26e-7
Cluster 295	6	Achromatopsia, ATF6-related retinopathy, CNGA3-related retinopathy, CNGB3-related retinopathy, GNAT2-related retinopathy and 1 more	visual perception GO · q=5.25e-9
Cluster 296	6	Charcot-Marie-tooth disease, axonal, type 2DD, Cushing syndrome, Cushing's disease, DDOST-congenital disorder of glycosylation, Hyperaldosteronism and 1 more	Cushing syndrome Pathway · q=1.15e-7
Cluster 297	6	Antecubital pterygium syndrome, Apolipoprotein c-iii deficiency, Cholesterol ester transfer protein deficiency, Follicular cyst, Hyperalphalipoproteinemia and 1 more	reverse cholesterol transport GO · q=3.49e-5
Cluster 298	6	Ameloblastoma, Congenital hypothalamic hamartoma syndrome, Curry-jones syndrome, Meningioma, mosaic SMO syndrome and 1 more	Hepatocellular carcinoma Pathway · q=2.84e-6
Cluster 299	6	aortic valve disease 3, Bicuspid aortic valve, Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige, Diffuse palmoplantar keratoderma, Focal palmoplantar keratoderma with joint keratoses and 1 more	aortic valve morphogenesis GO · q=4.43e-6
Cluster 300	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=6.32e-3
Cluster 301	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=6.35e-7
Cluster 302	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=1.94e-9
Cluster 303	6	Albinism, Eye neoplasms, Oculocutaneous albinism, Prader-willi syndrome, Rufous oculocutaneous albinism and 1 more	melanin biosynthetic process GO · q=4.22e-14
Cluster 304	6	alkylglycerone-phosphate synthase deficiency, Chondrodysplasia, chondrodysplasia with joint dislocations, gpapp type, glyceronephosphate O-acyltransferase deficiency, Rhizomelic chondrodysplasia punctata and 1 more	ether lipid biosynthetic process GO · q=5.83e-6
Cluster 305	6	Alpha-1 antichymotrypsin deficiency, Hemolytic disease of fetus and newborn, Rh deficiency syndrome, Rh isoimmunization, Rh-null, amorph type and 1 more	ammonium homeostasis GO · q=4.88e-8
Cluster 306	6	Alpha-actinopathy, Congenital fiber type disproportion myopathy, Eichsfeld type congenital muscular dystrophy, Rigid spine muscular dystrophy, SELENON-related myopathy and 1 more	muscle contraction GO · q=2.82e-7
Cluster 307	6	Amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, Thrombocythemia, Thrombocythemia with distal limb defects and 1 more	thrombopoietin-mediated signaling pathway GO · q=3.43e-9
Cluster 308	6	Charcot-Marie-Tooth disease, demyelinating, type 1J, Graves disease, Hashimoto disease, Hyperthyroidism, Thyroid disease and 1 more	Autoimmune thyroid disease Pathway · q=4.19e-23
Cluster 309	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=6.33e-4
Cluster 310	6	amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Childhood-onset basal ganglia degeneration syndrome, hypogonadotropic hypogonadism 1 with or without anosmia, Micropenis and 1 more	Synthesis of PIPs at the late endosome membrane Pathway · q=2.31e-4
Cluster 311	6	Boichis syndrome, Cerebellar malformation, Chylomicron retention disease, Coach syndrome, Rhyns syndrome and 1 more	cilium assembly GO · q=3.03e-8
Cluster 312	6	Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome, Dystrophic epidermolysis bullosa, Hallopeau siemens disease and 1 more	motor neuron axon guidance GO · q=4.47e-3
Cluster 313	6	Antithrombin deficiency, Bronchiolitis, Craniocerebral trauma, Diffuse panbronchiolitis, Hereditary antithrombin deficiency and 1 more	IL-17 signaling pathway Pathway · q=5.01e-4
Cluster 314	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=8.33e-12
Cluster 315	6	Blepharophimosis syndrome, Blepharophimosis-intellectual disability syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome, KAT6B-related multiple congenital anomalies syndrome, MED12-related intellectual disability syndrome and 1 more	positive regulation of DNA-templated transcription GO · q=2.02e-4
Cluster 316	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=1.25e-6
Cluster 317	6	CEP290-related ciliopathy, Encephalocele, intellectual disability, autosomal recessive 61, joubert syndrome 17, obsolete Stüve-Wiedemann syndrome and 1 more	leukemia inhibitory factor signaling pathway GO · q=9.94e-5
Cluster 318	6	Arteritis, Central retinal vein occlusion, Congenital thrombotic thrombocytopenic purpura, hereditary thrombophilia due to congenital protein C deficiency, Three-vessel coronary artery disease and 1 more	response to toxic substance GO · q=1.99e-4
Cluster 319	6	Capillary leak syndrome, Coronary artery vasospasm, Coronary vasospasm, Intestinal perforation, Resistant hypertension and 1 more	Nitric oxide stimulates guanylate cyclase Pathway · q=1.17e-4
Cluster 320	6	Arthralgia, Bone marrow neoplasms, Hyper-igd syndrome, Hyper-immunoglobulin d syndrome, methylmalonic aciduria, cblb type and 1 more	isoprenoid biosynthetic process GO · q=2.79e-4
Cluster 321	6	Arthrogryposis with ectodermal dysplasia, hearing loss, autosomal recessive 116, Pendred syndrome, progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Sensorineural hearing loss thrombocytopenia syndrome and 1 more	sensory perception of sound GO · q=4.96e-7
Cluster 322	6	autosomal recessive osteopetrosis 2, Bone resorption, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Contracture, Hyaline fibromatosis and 1 more	ossification GO · q=2.66e-5
Cluster 323	6	Blau syndrome, Bronchiolitis obliterans, Granulomatous inflammatory arthritis-dermatitis-uveitis, familial, Intestinal disease, Peritonitis and 1 more	positive regulation of interleukin-8 production GO · q=1.06e-4
Cluster 324	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=2.46e-3
Cluster 325	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=4.29e-10
Cluster 326	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=4.51e-3
Cluster 327	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=2.70e-3
Cluster 328	6	Autosomal dominant sensorineural deafness, Hearing loss with hypertrophic cardiomyopathy, Lobular carcinoma, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Renal hypertension and 1 more	G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO · q=6.82e-5
Cluster 329	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=7.15e-4
Cluster 330	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=4.56e-4
Cluster 331	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=1.03e-4
Cluster 332	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=7.04e-3
Cluster 333	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=4.26e-5
Cluster 334	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=3.57e-4
Cluster 335	6	Bone marrow diseases, Cerebellar diseases, dyskeratosis congenita, autosomal dominant 3, Mowat-wilson syndrome, Revesz debuse syndrome and 1 more	hindbrain development GO · q=1.80e-3
Cluster 336	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=5.39e-3
Cluster 337	6	Brown tendon sheath syndrome, Hyperparathyroidism, Osteolysis, hereditary, of carpal bones with or without nephropathy, Parathyroid disease, TUBB4A-related neurologic disorder and 1 more	Parathyroid hormone synthesis, secretion and action Pathway · q=3.19e-6
Cluster 338	6	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation, Chromosome 6q24-q25 deletion syndrome, congenital heart defects, multiple types, 2, hereditary spastic paraplegia 8, Ritscher-schinzler syndrome and 1 more	Golgi to plasma membrane transport GO · q=1.24e-3
Cluster 339	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=1.17e-5
Cluster 340	6	Caveolinopathy, Chromosome 3p25 monosomy, Creatine phosphokinase elevation, DPAGT1-congenital disorder of glycosylation, Rippling muscle disease and 1 more	regulation of calcium ion transport GO · q=1.98e-5
Cluster 341	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=1.75e-5
Cluster 342	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=6.65e-5
Cluster 343	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=4.89e-20
Cluster 344	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=2.22e-3
Cluster 345	6	Intestinal hypomagnesemia, Magnesium metabolism disorder, Primary hypomagnesemia with hypocalciuria, renal hypomagnesemia 2, renal hypomagnesemia 3 and 1 more	magnesium ion transmembrane transport GO · q=2.04e-6
Cluster 346	5	Dna ligase iv deficiency, Dubowitz syndrome, Intellectual developmental disorder short stature behavioral, Lig4 syndrome, Spondylosis	immunoglobulin V(D)J recombination GO · q=1.62e-3
Cluster 347	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=5.63e-5
Cluster 348	5	15q24 microdeletion, Chromosome 15q24 deletion syndrome, Congenital diaphragmatic hernia, SIN3A-related intellectual disability syndrome, Witteveen-kolk syndrome	anatomical structure morphogenesis GO · q=3.60e-6
Cluster 349	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=1.05e-11
Cluster 350	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=4.98e-11
Cluster 351	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=6.32e-3
Cluster 352	5	17q21.31 microdeletion syndrome, Dysgenesis of corpus callosum, Juvenile myoclonic epilepsy, koolen-de vries syndrome, multiple congenital anomalies-neurodevelopmental syndrome, x-linked	regulation of membrane repolarization during atrial cardiac muscle cell action potential GO · q=5.39e-3
Cluster 353	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=3.37e-6
Cluster 354	5	1p36 deletion syndrome, Dyssegmental dysplasia, radio-tartaglia syndrome, Schwartz-jampel syndrome, Silverman-Handmaker type dyssegmental dysplasia	neural fold bending GO · q=1.34e-2
Cluster 355	5	2-methylbutyryl-coa dehydrogenase deficiency, Acral peeling skin syndrome, Brunet-wagner neurodevelopmental syndrome, Peeling skin syndrome, Rheumatic disease	intrinsic apoptotic signaling pathway by p53 class mediator GO · q=7.65e-3
Cluster 356	5	3mc syndrome, Carnevale syndrome, Craniofacial ulnar renal syndrome, Malpuech facial clefting syndrome, Oculopalatosekeletal syndrome	Lectin pathway of complement activation Pathway · q=9.10e-7
Cluster 357	5	Carbohydrate metabolism disease, Carbohydrate metabolism disorder, MPI-congenital disorder of glycosylation, Transaldolase deficiency, Triose phosphate isomerase deficiency	Carbon metabolism Pathway · q=1.42e-6
Cluster 358	5	holoprosencephaly 3, Partial agenesis of corpus callosum, Preaxial polydactyly with upper back hypertrichosis, Skeletal system disorder, Triphalangeal thumb-polysyndactyly syndrome	embryonic digit morphogenesis GO · q=1.96e-3
Cluster 359	5	Acid-base disorder, Amed syndrome, Blepharitis, Respiratory system neoplasm, Wernicke-korsakoff syndrome	Ethanol oxidation Pathway · q=4.42e-6
Cluster 360	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=4.89e-3
Cluster 361	5	Cadasil, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, inherited thrombocytopenia, Myofibromatosis	DNA damage checkpoint signaling GO · q=4.62e-3
Cluster 362	5	Activated pi3k-delta syndrome, Combined immunodeficiency with facio-oculo-skeletal anomalies, immunodeficiency 14, immunodeficiency 14b, autosomal recessive, Roifman syndrome	Synthesis of PIPs at the plasma membrane Pathway · q=3.64e-5
Cluster 363	5	agammaglobulinemia 7, autosomal recessive, Diffuse idiopathic skeletal hyperostosis, immunodeficiency 122, PIK3R1-related immunodeficiency and SHORT syndrome, Short syndrome	transcription by RNA polymerase II GO · q=8.53e-3
Cluster 364	5	Agat deficiency, Arginine-glycine amidinotransferase deficiency, De toni-debre-fanconi syndrome, Fanconi renotubular syndrome, Fanconi syndrome	indole metabolic process GO · q=7.18e-3
Cluster 365	5	Cerebral creatine deficiency syndrome, Creatine deficiency, Creatine transporter deficiency, Guanidinoacetate methyltransferase deficiency, X-linked creatine transporter deficiency	creatine metabolic process GO · q=1.49e-9
Cluster 366	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=2.80e-17
Cluster 367	5	Agnathia-otocephaly, Dysgnathia complex, Mak-related retinopathy, Otosclerosis, Retrognathia	positive regulation of bone resorption GO · q=4.69e-4
Cluster 368	5	Axial spondylometaphyseal dysplasia, Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia, spondylometaphyseal dysplasia, 'corner fracture' type	cartilage development involved in endochondral bone morphogenesis GO · q=8.64e-4
Cluster 369	5	IFIH1-related type 1 interferonopathy, joubert syndrome 3, Microscopic colitis, Selective iga deficiency disease, Selective immunoglobulin a deficiency	Allograft rejection Pathway · q=1.33e-4
Cluster 370	5	Canavan disease, Fraser syndrome, Genetic infertility, Olmsted syndrome, primary ciliary dyskinesia 20	mammary gland duct morphogenesis GO · q=1.46e-3
Cluster 371	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=3.14e-4
Cluster 372	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=4.40e-3
Cluster 373	5	Atrial septal defect, Bafopathy, Congenital heart septal defect, renpenning syndrome, Ventricular septal defect	heart development GO · q=2.15e-13
Cluster 374	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=5.86e-4
Cluster 375	5	Amelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Enamel-renal syndrome, Hypomaturation amelogenesis imperfecta	biomineral tissue development GO · q=1.02e-17
Cluster 376	5	autoimmune lymphoproliferative syndrome type 1, Diabetic angiopathies, Diabetic peripheral angiopathy, Dihydropteridine reductase deficiency, Liver failure	response to hypoxia GO · q=2.69e-8
Cluster 377	5	Cardiomyopathy, cardiomyopathy, dilated, 2h, Dilated cardiomyopathy, dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy	Cytoskeleton in muscle cells Pathway · q=8.32e-32
Cluster 378	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=6.44e-15
Cluster 379	5	Anterior compartment syndrome, Heme oxygenase deficiency, Hemolysis, Intracranial vasospasm, Vascular system injury	vasodilation GO · q=3.47e-7
Cluster 380	5	Analbuminemia, Anuria, Blood protein disorder, Congenital analbuminemia, Dysalbuminemic hyperthyroxinemia	positive regulation of epidermal growth factor receptor signaling pathway GO · q=4.69e-4
Cluster 381	5	Cerebroretinal microangiopathy with calcifications and cysts, Coats plus syndrome, Congenital chromosomal disease, spermatogenic failure 18, Tumor predisposition syndrome	telomere capping GO · q=2.67e-6
Cluster 382	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=2.12e-4
Cluster 383	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=9.16e-8
Cluster 384	5	Bile duct disease, Bronchopneumonia, Creutzfeldt-jakob disease, Erythropoietic protoporphyria, SRD5A3-congenital disorder of glycosylation	ERBB2-EGFR signaling pathway GO · q=3.38e-5
Cluster 385	5	Brittle cornea syndrome, Congenital anomaly of limb, Congenital skin anomaly, geroderma osteodysplastica, Skin abnormalities	skeletal system development GO · q=2.53e-9
Cluster 386	5	Aplasia and myelodysplasia, Bone marrow failure syndromes, Congenital bone marrow failure syndrome, Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome, Growth hormone insensitivity syndrome with immune dysregulation	regulation of cell population proliferation GO · q=4.75e-6
Cluster 387	5	Apnea, Butyrylcholinesterase deficiency, Paralysis, Paresis, Trismus	serotonin metabolic process GO · q=1.14e-3
Cluster 388	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=6.34e-9
Cluster 389	5	Apraxia, Cataplexy, Developmental delay with variable intellectual disability, Marinesco-sjogren syndrome, Ophthalmoplegia	negative regulation of neuron remodeling GO · q=1.28e-2
Cluster 390	5	Arachnodactyly, Byzanthine arch palate, Ck syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, Perisylvian polymicrogyria	post-embryonic eye morphogenesis GO · q=1.66e-4
Cluster 391	5	Asthma, Eczema, Inflammatory skin disease, Intellectual developmental disorder neuropsychiatric, Respiratory system disease	Inflammatory bowel disease Pathway · q=9.55e-30
Cluster 392	5	C1 esterase inhibitor deficiency, C9 deficiency, Complement component deficiency, Hereditary c1 esterase inhibitor deficiency, Terminal complement component deficiency	complement activation GO · q=8.59e-40
Cluster 393	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=2.29e-9
Cluster 394	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=7.18e-3
Cluster 395	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=3.07e-4
Cluster 396	5	Autoinflammation, antibody deficiency, and immune dysregulation, Charcot-Marie-Tooth disease type 2T, Cold autoinflammatory syndrome, Congenital membranous nephropathy, Cryopyrin-associated periodic syndrome	positive regulation of interleukin-1 beta production GO · q=1.14e-4
Cluster 397	5	Biliary atresia, Central hypoventilation syndrome, Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease	neural crest cell migration GO · q=7.31e-13
Cluster 398	5	Cerebral sinovenous thrombosis, Congenital factor ii deficiency, Congenital prothrombin deficiency, Hemophilia b, thrombophilia due to thrombin defect	hemostasis GO · q=1.98e-8
Cluster 399	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=1.48e-5
Cluster 400	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=2.11e-4
Cluster 401	5	Carotid artery thrombosis, Glanzmann thrombasthenia, platelet-type bleeding disorder 16, platelet-type bleeding disorder 18, Thrombasthenia	blood coagulation GO · q=7.40e-8
Cluster 402	5	Combined oxidative phosphorylation defect, Dopamine transporter deficiency syndrome, Mild cognitive impairment, Parkinsonism-dystonia, SLC6A3-related dopamine transporter deficiency syndrome	monoamine transport GO · q=2.08e-4
Cluster 403	5	Bethlem myopathy, collagen 6-related myopathy, Collagen vi muscular dystrophy, dystonia 27, Ullrich congenital muscular dystrophy	Collagen chain trimerization Pathway · q=2.31e-7
Cluster 404	5	Bifunctional enzyme deficiency, Carnitine palmitoyltransferase deficiency, D-bifunctional protein deficiency, Fatty acid metabolism disorder, Peroxisomal disorder	fatty acid beta-oxidation GO · q=4.06e-9
Cluster 405	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=1.22e-2
Cluster 406	5	Bladder neck obstruction, Carcinoma in situ, Ovarian diseases, Pericardial effusion, Urinary bladder neck obstruction	Ovarian steroidogenesis Pathway · q=1.13e-4
Cluster 407	5	Hypocalcemic vitamin d-dependent rickets, Pancreatic trypsinogen deficiency, Peptic esophagitis, Rickets, Vitamin d dependent rickets	calcitriol biosynthetic process from calciol GO · q=3.16e-7
Cluster 408	5	COG4-congenital disorder of glycosylation, Expressive language delay, Gross motor development delay, microcephalic osteodysplastic dysplasia, Saul-Wilson type, Saul-wilson syndrome	muscle contraction GO · q=9.46e-5
Cluster 409	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=1.50e-4
Cluster 410	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=5.62e-4
Cluster 411	5	Chagas cardiomyopathy, Chudley-mccullough syndrome, Hereditary elliptocytosis, Neonatal anemia, Perinatal hemolytic anemia	actin filament capping GO · q=2.94e-4
Cluster 412	5	Cortical dysplasia-focal epilepsy syndrome, Dyslexia, holocarboxylase synthetase deficiency, Male infertility acephalic spermatozoa, Specific language disorder	vocal learning GO · q=1.41e-5
Cluster 413	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=2.94e-5
Cluster 414	5	Bullous diffuse cutaneous mastocytosis, Mast cell leukemia, Telangiectasia macularis eruptiva perstans, Testicular seminoma, Urticaria pigmentosa	melanocyte adhesion GO · q=1.93e-3
Cluster 415	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=1.12e-2
Cluster 416	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=9.50e-3
Cluster 417	5	Congenital neck anomaly, Deglutition disorder, Distal nebulin myopathy, Nebulin-related myopathy, nemaline myopathy 2	tRNA-type intron splice site recognition and cleavage GO · q=4.13e-8
Cluster 418	5	Cerebellar atrophy with seizures and variable developmental delay, complex neurodevelopmental disorder with motor features, generalized epilepsy-paroxysmal dyskinesia syndrome, Gingival diseases, Prostatic hyperplasia	response to follicle-stimulating hormone GO · q=4.10e-4
Cluster 419	5	Cerebral saccular aneurysm, Connective and soft tissue disorder, ehlers-danlos syndrome, vascular type, Nephrosclerosis, Vascular ehlers-danlos syndrome	positive regulation of vasculature development GO · q=1.29e-6
Cluster 420	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=2.82e-3
Cluster 421	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=9.92e-6
Cluster 422	5	Congenital folate absorption defect, Hereditary folate malabsorption, Malabsorption syndrome, MECOM-associated syndrome, Pancytopenia	tetrahydrofolate biosynthetic process GO · q=6.33e-4
Cluster 423	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=1.00e-3
Cluster 424	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=1.42e-14
Cluster 425	5	Digestive system neoplasms, Dysferlinopathy, Genetic recurrent myoglobinuria, H syndrome, myoglobinuria, acute recurrent, autosomal recessive	monoatomic anion transmembrane transport GO · q=4.37e-3
Cluster 426	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=3.32e-3

426 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?