Disease Clusters | GeDiPNet

Developmental delay with epilepsy, progressive ataxia and cerebellar atrophy 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 →

6,192 of 9,368 diseases (66%) fall into one of 658 clusters. The remaining 3,176 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	95	Acinic cell breast carcinoma, Adnexal spiradenoma/cylindroma of a sweat gland, Adrenal gland pheochromocytoma, Adrenocorticotropic hormone-producing pituitary gland adenoma, Ameloblastoma and 90 more	Pathways in cancer Pathway · q=6.87e-62
Cluster 2	92	Abdominal obesity-metabolic syndrome 3, Adrenal cortex carcinoma, Adrenal gland neuroblastoma, Aggressive nk-cell leukemia, Anaplastic large cell lymphoma and 87 more	positive regulation of transcription by RNA polymerase II GO · q=6.21e-64
Cluster 3	82	Acantholytic blistering of oral and laryngeal mucosa, Acinar lung adenocarcinoma, Acral lentiginous melanoma, Adenosquamous lung carcinoma, Adrenal cortex adenoma and 77 more	positive regulation of transcription by RNA polymerase II GO · q=1.59e-63
Cluster 4	70	Acute disseminated encephalomyelitis, Anti-neutrophil antibody associated vasculitis, Antiphospholipid syndrome, Apolipoprotein b hypobetalipoproteinemia, Autoimmune gastritis and 65 more	Allograft rejection Pathway · q=6.08e-17
Cluster 5	66	1q44 microdeletion syndrome, Aspartylglucosaminuria, Cardiofacio-neurodevelopmental syndrome, Complex neurodevelopmental disorder, Congenital neurologic anomalies and 61 more	nervous system development GO · q=1.19e-44
Cluster 6	61	Acute myeloid leukemia, Adenoid cystic carcinoma, Androgenetic alopecia, Autosomal recessive osteopetrosis 8, B-cell acute lymphoblastic leukemia and 56 more	positive regulation of transcription by RNA polymerase II GO · q=4.91e-51
Cluster 7	60	3-methylcrotonyl-coa carboxylase deficiency, Alopecia-neurological defects-endocrinopathy syndrome, Alzheimer disease, Anxiety disorder, Attention deficit hyperactivity disorder and 55 more	nervous system development GO · q=2.27e-22
Cluster 8	55	Anaplastic ependymoma, Atypical teratoid rhabdoid tumor, Benign monoclonal gammopathy, Bladder cancer, Bladder papillary urothelial carcinoma and 50 more	Pathways in cancer Pathway · q=1.23e-53
Cluster 9	52	Al-raqad syndrome, Auditory neuropathy, Auditory neuropathy, autosomal dominant, 1, Congenital ear anomaly, Deafness and 47 more	sensory perception of sound GO · q=1.89e-91
Cluster 10	35	Atherosclerosis, Atrial fibrillation, Band heterotopia of brain, Cardiovascular disease, Cerebrovascular disorder and 30 more	positive regulation of transcription by RNA polymerase II GO · q=5.56e-25
Cluster 11	34	Acute leukemia of ambiguous lineage, Acute myeloid leukemia, t(3;5)(q25;q34), B-lymphoblastic leukemia/lymphoma, Blast phase chronic myelogenous leukemia, bcr-abl1 positive, Cd4+/cd56+ hematodermic neoplasm and 29 more	Pathways in cancer Pathway · q=9.99e-54
Cluster 12	32	Aneurysm, Aortic aneurysm, Bone marrow failure and diabetes mellitus syndrome, Cardiomyopathy, dilated, 2j, Cerebrocostomandibular syndrome and 27 more	skeletal system development GO · q=3.82e-22
Cluster 13	31	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Codas syndrome, Combined oxidative phosphorylation deficiency, Cytochrome c oxidase deficiency, Early onset isolated mitochondrial complex i deficiency and 26 more	Respiratory electron transport Pathway · q=3.71e-72
Cluster 14	31	Achromatopsia, Cone dystrophy, Cone rod dystrophy and hearing loss, Cone-rod dystrophy, Cone-rod dystrophy 2 and 26 more	visual perception GO · q=3.13e-114
Cluster 15	30	Anisometropia, Atrophy, Atypical ductal hyperplasia, Bannayan-riley-ruvalcaba syndrome, Breast and ovarian cancer and 25 more	Central carbon metabolism in cancer Pathway · q=1.14e-16
Cluster 16	27	ALG6-congenital disorder of glycosylation 1C, Alsahan-harris syndrome, Aplasia of the vermis, Bardet-biedl syndrome, Bardet-biedl syndrome 16 and 22 more	cilium assembly GO · q=5.12e-87
Cluster 17	27	Amyotrophic lateral sclerosis type 15, Brody myopathy, Cohen syndrome, Congenital hypogonadotrophic hypogonadism, Growth hormone deficiency and 22 more	pituitary gland development GO · q=5.17e-8
Cluster 18	27	Ciliary dyskinesia, Ciliary dyskinesia, primary, 36, x-linked, Ciliary dyskinesia, primary, 45, Ciliary dyskinesia, primary, 46, Ciliary dyskinesia, primary, 47, and lissencephaly and 22 more	cilium movement GO · q=3.30e-40
Cluster 19	26	Adenoma of small intestine, Adenomatous polyposis coli (thyroid papillary carcinoma in patients with apc), Appendix villous adenoma, Bone dysplasia with increased bone density, Brain tumor-polyposis syndrome and 21 more	regulation of cell population proliferation GO · q=4.68e-9
Cluster 20	25	5-oxoprolinase deficiency, Atrial flutter, Atrioventricular block, Brugada syndrome, Cardiac arrest and 20 more	regulation of heart rate by cardiac conduction GO · q=1.83e-48
Cluster 21	23	Achondrogenesis, type ii or hypochondrogenesis, Avascular necrosis of femoral head, Collagenopathy, Congenital hip dysplasia, Coxa plana and 18 more	cartilage development involved in endochondral bone morphogenesis GO · q=2.02e-3
Cluster 22	23	Allergic contact dermatitis, Arthritis, Atopic dermatitis, Autoimmune hepatitis, Autoinflammation with episodic fever and immune dysregulation and 18 more	immune response GO · q=2.34e-51
Cluster 23	22	Aarskog-scott syndrome, x-linked, Acro-dermo-ungual-lacrimal-tooth syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Bladder exstrophy, Bladder exstrophy and epispadias complex and 17 more	canonical Wnt signaling pathway GO · q=3.19e-5
Cluster 24	22	Cataract, Cataract 15, multiple types, Cataract 17, multiple types, Cataract 19, multiple types, Cataract 20, multiple types and 17 more	lens development in camera-type eye GO · q=1.11e-25
Cluster 25	21	Bachmann-bupp syndrome, Capillary hemangioma, Epidermal nevus, Follicular thyroid cancer, Inverted urothelial papilloma and 16 more	Pathways in cancer Pathway · q=4.81e-24
Cluster 26	19	Abdominal obesity-metabolic syndrome 4, Acetyl-coa carboxylase deficiency, Avoidant restrictive food intake disorder, Bile duct calculus, Carotid artery stenosis and 14 more	locomotory behavior GO · q=7.25e-7
Cluster 27	19	Absence epilepsy, Childhood absence epilepsy, Cranio-cervical dystonia, Dravet syndrome, Early-onset generalized dystonia and 14 more	monoatomic ion transmembrane transport GO · q=4.96e-25
Cluster 28	19	Bowen's disease, Calcifying nested epithelial stromal tumor of the liver, Cecal neoplasms, Colorectal hamartoma, Ependymoblastoma and 14 more	Thyroid cancer Pathway · q=2.06e-6
Cluster 29	18	Acromicric dysplasia, Arachnodactyly, Arc syndrome, Arthrogryposis-renal dysfunction-cholestasis syndrome, Congenital pectus carinatum and 13 more	post-embryonic eye morphogenesis GO · q=2.45e-4
Cluster 30	18	Adenomyoma of uterine corpus, Cholestasis-pigmentary retinopathy-cleft palate syndrome, Disseminated peritoneal leiomyomatosis, Endometrial polyp, Fg syndrome and 13 more	Cellular senescence Pathway · q=3.61e-5
Cluster 31	18	Autosomal dominant combined immunodeficiency, Combined immunodeficiency, Immunodeficiency, Immunodeficiency 101, varicella zoster virus-specific, Immunodeficiency 17, cd3 gamma deficient and 13 more	immune system process GO · q=9.96e-25
Cluster 32	18	Dilated cardiomyopathy 1A, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Emery-dreifuss muscular dystrophy, Familial partial lipodystrophy type 2, Heart-hand syndrome, slovenian type and 13 more	Cytoskeleton in muscle cells Pathway · q=3.84e-6
Cluster 33	18	Bone marrow failure, Breast-ovarian cancer, familial, susceptibility to, 4, Cancer predisposition, Fallopian tube serous adenocarcinoma, Familial ovarian cancer and 13 more	DNA repair GO · q=1.53e-48
Cluster 34	17	Abetalipoproteinemia, Carotid artery disease, Congenital hyperinsulinism, Diabetic ketoacidosis, Glycogen storage disease I and 12 more	Maturity onset diabetes of the young Pathway · q=9.95e-18
Cluster 35	17	Agammaglobulinemia 6, autosomal recessive, Branchial arch abnormalities syndrome, Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, Branchial cleft anomalies, Congenital small ears and 12 more	cellular senescence GO · q=1.07e-5
Cluster 36	17	Atypical hemolytic uremic syndrome, Atypical hemolytic-uremic syndrome with anti-factor h antibodies, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with DGKE deficiency, C3 glomerulonephritis and 12 more	complement activation GO · q=6.21e-64
Cluster 37	17	Atrial standstill, Cardiac rhythm disease, Dilated cardiomyopathy 1E, Ectopic rhythm, Heart block, nonprogressive and 12 more	regulation of heart rate by cardiac conduction GO · q=3.35e-7
Cluster 38	16	Biliary tract cancer, Cancer, Cervical cancer, Chromosome 20q11-q12 deletion syndrome, Endometrial cancer and 11 more	Pathways in cancer Pathway · q=7.09e-15
Cluster 39	16	17q23.1q23.2 microdeletion syndrome, Amelia, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, Arthropathy, Chromosome 17q23.1-q23.2 duplication syndrome and 11 more	embryonic hindlimb morphogenesis GO · q=5.53e-6
Cluster 40	16	Charcot-marie-tooth disease, Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B3 and 11 more	Cytosolic tRNA aminoacylation Pathway · q=6.79e-7
Cluster 41	16	Apert syndrome, Cataract-intellectual disability-hypogonadism syndrome, Congenital malformation syndromes predominantly affecting facial appearance, Corpus callosum agenesis with facial anomalies and cerebellar ataxia, Craniofacial microsomia and 11 more	PI3K Cascade Pathway · q=1.61e-5
Cluster 42	16	Alpha thalassemia x-linked intellectual disability, Alpha-thalassemia intellectual developmental disorder syndrome non-deletion type, Asphyxiating thoracic dystrophy 2, Astroblastoma, Atr-x syndrome and 11 more	chromatin remodeling GO · q=4.20e-5
Cluster 43	16	Acrocallosal syndrome, Al-gazali-bakalinova syndrome, Anorectal malformation, Cronkhite-canada syndrome, Greig cephalo-poly-syndactyly syndrome and 11 more	lung development GO · q=8.30e-5
Cluster 44	16	Congenital plasminogen activator inhibitor deficiency type 1, Hematologic disease, Hepatic vein thrombosis, Hepatic veno occlusive disease, Homocystinuria and 11 more	cellular response to lipopolysaccharide GO · q=5.05e-9
Cluster 45	16	Asbestosis, Brachyphalangy, polydactyly and tibial aplasia syndrome, Bronchopulmonary dysplasia, Chronic obstructive pulmonary disease, Cystic fibrosis and 11 more	inflammatory response GO · q=2.70e-25
Cluster 46	16	Amyotrophic lateral sclerosis, susceptibility to, 24, Dilated cardiomyopathy 1V, Jeune syndrome, Jeune thoracic dystrophy, Joubert syndrome with ocular defect and 11 more	cilium assembly GO · q=3.98e-35
Cluster 47	16	Anemia, congenital, non-spherocytic hemolytic, 9, Anemia, x-linked, Anemia, x-linked, with/without neutropenia and/or platelet abnormalities, Congenital erythropoietic porphyria, Cutaneous porphyria and 11 more	actin filament-based movement GO · q=1.55e-3
Cluster 48	15	11p partial monosomy syndrome, Ambiguous genitalia, Anus neoplasms, Cataract 30, pulverulent, Congenital aniridia and 10 more	positive regulation of gene expression GO · q=2.04e-5
Cluster 49	15	17q11 microdeletion syndrome, Cervical lymphadenopathy, Collecting duct carcinoma, Embryonal nuclear cataract, Familial spinal neurofibromatosis and 10 more	RAS signaling downstream of NF1 loss-of-function variants Pathway · q=3.52e-6
Cluster 50	15	46,xx ovotesticular disorder of sex development, 46,xx sex reversal, 46,xy gonadal dysgenesis, 46,xy partial gonadal dysgenesis, 46,xy sex reversal and 10 more	positive regulation of male gonad development GO · q=4.84e-15
Cluster 51	15	Angle closure glaucoma, Avascular necrosis of bone, Chromosome 5q deletion syndrome, Hereditary fructose intolerance, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 and 10 more	response to hypoxia GO · q=1.18e-7
Cluster 52	15	Autosomal recessive primary microcephaly, Cerebellofaciodental syndrome, Congenital microcephaly, Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome, Ehlers-danlos syndrome, hypermobility type and 10 more	cell division GO · q=1.57e-15
Cluster 53	15	Autosomal dominant oculodentodigital dysplasia, Bilateral microphthalmos, Erythrokeratodermia variabilis, Erythrokeratodermia variabilis et progressiva 2, Erythrokeratodermia variabilis et progressiva 3 and 10 more	Gap junction assembly Pathway · q=2.17e-4
Cluster 54	15	Alexander disease, Cochlear diseases, Combined saposin deficiency, Deafness, autosomal recessive 12, Deafness, autosomal recessive 23 and 10 more	sensory perception of light stimulus GO · q=3.12e-12
Cluster 55	15	Cerebellar atrophy with spinal motor neuronopathy, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Ciliopathy-IFT74, Congenital brain malformation, Congenital hypoplasia of part of brain and 10 more	neuron migration GO · q=1.92e-12
Cluster 56	15	Charcot-Marie-Tooth disease dominant intermediate E, Congenital nephrotic syndrome, Focal glomerulosclerosis, Focal segmental glomerulosclerosis, Hereditary steroid-resistant nephrotic syndrome and 10 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=1.33e-10
Cluster 57	15	Alpha-actinopathy, Congenital myopathy 2a, typical, autosomal dominant, Congenital myopathy 2b, severe infantile, autosomal recessive, Congenital myopathy 2c, severe infantile, autosomal dominant, Congenital myopathy 3 with rigid spine and 10 more	Cytoskeleton in muscle cells Pathway · q=1.32e-11
Cluster 58	15	Anterior segment anomalies with or without cataract, Asymmetric crying face association, Bor syndrome, Brachiootic syndrome 3, Branchiooculofacial syndrome and 10 more	positive regulation of secondary heart field cardioblast proliferation GO · q=1.76e-4
Cluster 59	15	Arrhythmogenic right ventricular cardiomyopathy, Barth syndrome, Cardiomyopathy, Cardiomyopathy, dilated, 2e, Cardiomyopathy, dilated, 2h and 10 more	cardiac muscle contraction GO · q=6.62e-35
Cluster 60	15	Asymmetric septal hypertrophy, Biventricular noncompaction cardiomyopathy, Congenital myopathy 7a, myosin storage, autosomal dominant, Coronary stenosis, Dilated cardiomyopathy 1S and 10 more	cardiac muscle contraction GO · q=7.52e-9
Cluster 61	15	Autosomal recessive parkinson disease 14, Bone mineral density quantitative trait locus, Camurati-engelmann syndrome, Delayed puberty, self-limited, Endosteal hyperostosis, worth type and 10 more	Negative regulation of TCF-dependent signaling by WNT ligand antagonists Pathway · q=4.86e-4
Cluster 62	15	Atypical multiple mole melanoma syndrome, Clear cell chondrosarcoma, Duodenal gastrin-producing neuroendocrine tumor, Dysplasia, Intestinal cancer and 10 more	Hepatocellular carcinoma Pathway · q=2.91e-8
Cluster 63	15	Becker generalized myotonia, Congenital myopathy 22b, severe fetal, Congenital myotonia, Encephalopathy, acute, infection-induced, 3, Familial acute necrotizing encephalopathy and 10 more	monoatomic ion transmembrane transport GO · q=2.14e-3
Cluster 64	15	Beta-thalassemia HBB/LCRB, Cooleys anemia, Dominant beta-thalassemia, Erythrocytosis, familial, 6, Hemoglobin c beta thalassemia and 10 more	Intestinal infectious diseases Pathway · q=4.49e-3
Cluster 65	14	Ankylosing spondylitis, Cherubism, Crohn disease, Ehrlich tumor carcinoma, Iga nephropathy and 9 more	immune response GO · q=1.07e-32
Cluster 66	14	Autoinflammatory-pancytopenia syndrome, Dental caries, Diabetes mellitus type 1, Hyperchlorhidrosis, isolated, Hypomyelination with brain stem and spinal cord involvement and leg spasticity and 9 more	Inflammatory bowel disease Pathway · q=3.09e-25
Cluster 67	14	Autosomal recessive spinocerebellar ataxia 16, Cayman type cerebellar ataxia, Cerebellar ataxia, Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, Spastic ataxia and 9 more	Spinocerebellar ataxia Pathway · q=8.86e-14
Cluster 68	14	Anorexia nervosa, Cardiomyopathy, dilated, 2f, Charcot-Marie-Tooth disease, axonal, type 2FF, Early-onset distal myopathy, Eating disorder and 9 more	chemical synaptic transmission GO · q=6.15e-6
Cluster 69	14	Bleeding disorder, platelet-type, 22, Carotid artery thrombosis, Glanzmann thrombasthenia, Hemorrhagic disease, Macrothrombocytopenia and 9 more	blood coagulation GO · q=1.06e-40
Cluster 70	14	Angiomatoid fibrous histiocytoma, Askin tumor, Bone osteosarcoma, Cavernous hemangioma, Ectomesenchymoma and 9 more	Prostate cancer Pathway · q=8.07e-12
Cluster 71	14	Congenital kidney anomaly, Epithelioid type angiomyolipoma, Fliedner-zweier syndrome, Focal cortical dysplasia, Intracranial aneurysm and 9 more	TORC1 signaling GO · q=8.55e-6
Cluster 72	14	Adrenal gland neoplasms, Congenital hereditary endothelial dystrophy, Congenital stromal corneal dystrophy, Corneal disease, Corneal dystrophy and 9 more	MET activates PTK2 signaling Pathway · q=2.06e-5
Cluster 73	14	Aldolase a deficiency, Danon disease, Dimauro disease, Exercise induced rhabdomyolysis, Glycogen phosphorylase kinase deficiency and 9 more	glycogen metabolic process GO · q=4.43e-23
Cluster 74	14	Amyotrophic lateral sclerosis type 6, Angiolipoma, Cutaneous fibrous histiocytoma, Epithelioid hemangioendothelioma, Giant cell tumor of soft tissue and 9 more	Prostate cancer Pathway · q=8.07e-9
Cluster 75	14	Aniridia, Anterior segment dysgenesis, Anterior segment dysgenesis 4, Anterior segment dysgenesis 8, Anterior segment mesenchymal dysgenesis and 9 more	camera-type eye development GO · q=4.00e-11
Cluster 76	14	Ataxia-hypogonadism-choroidal dystrophy syndrome, Beta-sarcoglycanopathy, Boucher-neuhauser syndrome, Brainstem atrophy, Cerebellar ataxia and hypogonadotropic hypogonadism and 9 more	N-glycan processing to lysosome GO · q=1.76e-5
Cluster 77	14	Benign kidney neoplasm, Benign renal pelvis neoplasm, Congenital mesoblastic nephroma, Cystic nephroma, Dopamine beta-hydroxylase deficiency and 9 more	positive regulation of cell migration GO · q=6.94e-5
Cluster 78	13	Abnormal corpus callosum, Armfield syndrome, Corpus callosum agenesis with intellectual disability, coloboma, micrognathia, Intellectual developmental disorder, x-linked, Intellectual disability, X-linked 106 and 8 more	modulation of chemical synaptic transmission GO · q=3.45e-4
Cluster 79	13	Achondroplasia, Camptodactyly, tall stature, and hearing loss syndrome, Catshl syndrome, Cheilitis, Crouzon syndrome with acanthosis nigricans and 8 more	Bladder cancer Pathway · q=5.04e-9
Cluster 80	13	Dowling degos disease, Dowling-degos disease 1, Epidermolysis bullosa, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive and 8 more	Type I hemidesmosome assembly Pathway · q=1.11e-25
Cluster 81	13	Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome, Dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica inversa, autosomal recessive and 8 more	Parkinson disease Pathway · q=3.84e-3
Cluster 82	13	Adie pupil, Autosomal dominant centronuclear myopathy, Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm and 8 more	myelination GO · q=5.41e-6
Cluster 83	13	Bronchiectasis, Bronchiectasis and nasal polyposis, Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 2, Bronchiectasis with or without elevated sweat chloride 3 and 8 more	Aldosterone-regulated sodium reabsorption Pathway · q=5.82e-8
Cluster 84	13	Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Melas syndrome and 8 more	proton motive force-driven mitochondrial ATP synthesis GO · q=5.87e-16
Cluster 85	13	Albright hereditary osteodystrophy, Exocrine pancreatic carcinoma, Fibrous dysplasia, Macronodular adrenal hyperplasia, Mccune-albright syndrome and 8 more	Cushing syndrome Pathway · q=1.53e-4
Cluster 86	13	Ichthyosis bullosa of siemens, Spastic paraplegia 70, autosomal recessive, Trichorrhexis nodosa syndrome, Trichothiodystrophy, Trichothiodystrophy 6, nonphotosensitive and 8 more	nucleotide-excision repair GO · q=1.41e-15
Cluster 87	13	Aneurysmal bone cyst, Dedifferentiated solitary fibrous tumor, Hemangiopericytoma, Hyper-immunoglobulin e syndrome 6, autosomal dominant, with recurrent infections, Malignant triton tumor and 8 more	MAPK cascade GO · q=1.09e-5
Cluster 88	13	Blood coagulation disorder, Cerebral hemorrhage, Disseminated intravascular coagulation, Fetal erythroblastosis, Hemophilia a and 8 more	blood coagulation GO · q=2.66e-46
Cluster 89	13	Aniridia-cerebellar ataxia-intellectual disability syndrome, Aplasia/hypoplasia of the corpus callosum, Bilateral congenital mydriasis, Cataract with late-onset corneal dystrohpy, Cataract-corneal dystrophy syndrome and 8 more	epithelial fluid transport GO · q=3.29e-4
Cluster 90	13	Carcinoid syndrome, Carney complex, Carney-stratakis syndrome, Cowden disease, Hereditary pheochromocytoma-paraganglioma and 8 more	mitochondrial electron transport, succinate to ubiquinone GO · q=6.43e-11
Cluster 91	13	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy, dilated, with woolly hair and keratoderma, autosomal recessive, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis, Carvajal syndrome, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, autosomal dominant and 8 more	regulation of ventricular cardiac muscle cell action potential GO · q=1.42e-6
Cluster 92	13	Cardiac valvular dysplasia, Congenital idiopathic intestinal pseudoobstruction, Congenital short bowel syndrome, Fg syndrome 2, Frontometaphyseal dysplasia and 8 more	GP1b-IX-V activation signalling Pathway · q=8.38e-4
Cluster 93	13	Cerebral venous sinus thrombosis, Congenital factor v deficiency, Diabetes macrovascular complications, East texas bleeding disorder, Factor v deficiency and 8 more	blood coagulation GO · q=1.53e-4
Cluster 94	12	Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease type 2D, Distal hereditary motor neuropathy, Distal spinal muscular atrophy, Motor neuron disease and 7 more	Amyotrophic lateral sclerosis Pathway · q=7.82e-10
Cluster 95	12	Breast fibrocystic disease, Congenital hernia of foramen of bochdalek, Cutis laxa, autosomal recessive, type id, Doyne honeycomb degeneration of retina, Doyne honeycomb retinal dystrophy and 7 more	ureteric bud development GO · q=1.48e-4
Cluster 96	12	Brain injuries, Brain ischemia, Candidiasis, familial, 5, Colitis, Diabetic angiopathies and 7 more	Lipid and atherosclerosis Pathway · q=1.18e-30
Cluster 97	12	Developmental delay with dysmorphic facies and brain anomalies, Hypomyelinating leukodystrophy, Hypomyelinating leukodystrophy 5, Hypomyelinating leukodystrophy 9, Leukodystrophy and 7 more	Cytosolic tRNA aminoacylation Pathway · q=6.53e-8
Cluster 98	12	Acanthoma, Congenital myopathy with excess of muscle spindles, Folliculitis, Non-neoplastic nevus, Penile neoplasms and 7 more	Endometrial cancer Pathway · q=5.10e-8
Cluster 99	12	Aortic dissection, Arterial tortuosity syndrome, Cutaneous polyarteritis nodosa, Cutis laxa, autosomal recessive, type 1B, Deafness, autosomal dominant 56 and 7 more	positive regulation of extracellular matrix assembly GO · q=1.54e-7
Cluster 100	12	Anhydramnios, Coronary restenosis, Diabetic cardiomyopathy, Fabry disease, Mental retardation, x-linked, syndromic, bain type and 7 more	kidney development GO · q=6.23e-7
Cluster 101	12	Afibrinogenemia, Amyloidosis, hereditary systemic 2, Congenital afibrinogenemia, Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital fibrinogen deficiency and 7 more	hemostasis GO · q=2.31e-20
Cluster 102	12	Agranulocytosis, Bombay phenotype, Deficiency anemia, Infantile nephronophthisis and intellectual disability, Megaloblastic anemia and 7 more	Cobalamin (Cbl, vitamin B12) transport and metabolism Pathway · q=2.04e-13
Cluster 103	12	Aicardi-goutieres syndrome 1, dominant and recessive, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebroretinal vasculopathy, Chilblain lupus erythematosus, FANCM Fanconi-like genomic instability disorder and 7 more	regulation of metabolic process GO · q=9.74e-4
Cluster 104	12	Aids, rapid progression to, Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema, Autoinflammatory disease, systemic, x-linked, Bloch sulzberger syndrome, Congenital nonspherocytic hemolytic anemia and 7 more	Primary immunodeficiency Pathway · q=1.43e-8
Cluster 105	12	Bone fragility with contractures, arterial rupture, and deafness, Cole-carpenter syndrome, Craniotubular dysplasia, Dysostosis multiplex, ain-naz type, Immunoskeletal dysplasia with neurodevelopmental abnormalities and 7 more	collagen fibril organization GO · q=6.94e-18
Cluster 106	12	Anastomosing hemangioma, Benign blood vessel neoplasm, Blue nevus, Capillary malformation, Congenital hemangioma and 7 more	Colorectal cancer Pathway · q=1.69e-14
Cluster 107	12	Azoospermia, Congenital impairment of spermatozoa motility, Fanconi anemia complementation group V, Male infertility, Male infertility single gene azoospermia and 7 more	spermatogenesis GO · q=1.34e-59
Cluster 108	12	Alzahrani-kuwahara syndrome, Congenital heart defect, intellectual disability, facial dysmorphism syndrome, Desanto-shinawi syndrome, Developmental and epileptic encephalopathy, 80, Facial dysmorphism syndrome and 7 more	GPI anchor biosynthetic process GO · q=6.65e-16
Cluster 109	12	Angiokeratoma, Blepharophimosis-ptosis-epicanthus inversus syndrome, Brain cancer, Brain neoplasms, Colon dysplasia and 7 more	Non-small cell lung cancer Pathway · q=1.38e-10
Cluster 110	12	Bleeding disorder, Cerebellar vermis atrophy, Cerebral arteriovenous malformations, Epistaxis, Hereditary hemorrhagic telangiectasia and 7 more	vasodilation GO · q=2.28e-13
Cluster 111	12	Clouston syndrome, Deafness, autosomal dominant, 3b, Deafness, autosomal recessive 1b, Deafness, x-linked, Ectodermal dysplasia, hidrotic, autosomal dominant and 7 more	gap junction-mediated intercellular transport GO · q=3.24e-4
Cluster 112	12	Colorectal cancer, hereditary nonpolyposis, type 4, Constitutional mismatch repair deficiency, Cystic leukoencephalopathy, Hereditary nonpolyposis colon cancer, Lynch syndrome and 7 more	Colorectal cancer Pathway · q=1.84e-14
Cluster 113	12	Diffuse melanocytosis, Intradermal nevus, Lobular capilliary hemangioma, Mediastinum angiosarcoma, Melanocytic naevi and 7 more	Thyroid cancer Pathway · q=1.98e-7
Cluster 114	11	17q12 microdeletion syndrome, Bilateral multicystic dysplastic kidney, Cholestasis, Deafness, autosomal dominant 80, Giant cell tumor of tendon sheath and 6 more	pronephros development GO · q=5.63e-8
Cluster 115	11	3-hydroxyisobutyric aciduria, Bladder calculus, Helix syndrome, Hyperuricemia, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis and 6 more	urate metabolic process GO · q=3.82e-6
Cluster 116	11	Alazami syndrome, Dwarfism, Ear, patella, short stature syndrome, Meier-gorlin syndrome, Meier-gorlin syndrome 2 and 6 more	DNA replication GO · q=1.52e-20
Cluster 117	11	Aapoai amyloidosis, Amyloid polyneuropathy, Amyloidosis, 3 or more types, Apolipoprotein a-i amyloidosis, Apolipoprotein a-i and c-iii deficiency, combined and 6 more	lipoprotein biosynthetic process GO · q=4.88e-8
Cluster 118	11	Autosomal dominant nonsyndromic hearing loss, Deafness, autosomal dominant 21, Deafness, autosomal dominant 37, Deafness, autosomal dominant 7, Deafness, autosomal dominant, 77 and 6 more	sensory perception of sound GO · q=1.75e-3
Cluster 119	11	Acral self-healing collodion baby, Congenital ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Ichthyosis prematurity syndrome and 6 more	Formation of the cornified envelope Pathway · q=4.04e-9
Cluster 120	11	Acromesomelic chondrodysplasia, grebe type, Angel-shaped phalangoepiphyseal dysplasia, Brachydactyly, Developmental dysplasia of the hip, Du pan syndrome and 6 more	chondrocyte differentiation GO · q=3.71e-8
Cluster 121	11	Acrocephalosyndactyly type v, Ankylosis, Antley-bixler syndrome without genital anomalies or disordered steroidogenesis, Biliary tract neoplasms, Congenital aural atresia and 6 more	Ras signaling pathway Pathway · q=4.36e-5
Cluster 122	11	Acroosteolysis, Calcifications in basal ganglia, Familial infantile myofibromatosis, Hypereosinophilic syndrome, Kosaki overgrowth syndrome and 6 more	Pathways in cancer Pathway · q=1.83e-5
Cluster 123	11	Central nervous system demyelinating disease, Deafness-enamel hypoplasia-nail defects syndrome, Dilated cardiomyopathy 2B, Heimler syndrome, Heimler syndrome 1 and 6 more	Peroxisomal protein import Pathway · q=4.80e-10
Cluster 124	11	Autosomal recessive mental retardation, Carbohydrate deficient glycoprotein syndrome, Coronary aneurysm, Dock2 deficiency, Li-campeau syndrome and 6 more	prepulse inhibition GO · q=1.11e-2
Cluster 125	11	Combined low ldl and fibrinogen, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type iii, Congenital disorder of glycosylation type iy and 6 more	N-Glycan biosynthesis Pathway · q=8.64e-46
Cluster 126	11	Glutamate pyruvate transaminase 2 deficiency, Hereditary spastic paraplegia, Hereditary spastic paraplegia 62, Spastic paraplegia, Spastic paraplegia 28, autosomal recessive and 6 more	vesicle-mediated transport GO · q=7.95e-5
Cluster 127	11	Cobalamin c disease, Donnai-barrow syndrome, Intracellular cobalamin metabolism disorder, Methylmalonic acidemia, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency and 6 more	Cobalamin transport and metabolism Pathway · q=4.00e-31
Cluster 128	11	Arterial occlusive disease, Asthenozoospermia, Brain edema, Cardiac injury, Cholesterol embolism and 6 more	response to hypoxia GO · q=5.11e-5
Cluster 129	11	Aplastic anemia, Dyskeratosis congenita, Dyskeratosis congenita and related telomere biology disorder, Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita, autosomal recessive 2 and 6 more	Telomere Extension By Telomerase Pathway · q=2.05e-17
Cluster 130	11	Deafness with congenital onychodystrophy, Deafness-onychodystrophy syndrome, Deafness, autosomal dominant 65, Deafness, autosomal recessive 86, Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome and 6 more	Synaptic vesicle cycle Pathway · q=1.56e-4
Cluster 131	11	Asphyxiating thoracic dystrophy 5, Biliary-renal-neuro-skeletal syndrome, Caroli disease, Craniodiaphyseal dysplasia, Cranioectodermal dysplasia and 6 more	intraciliary retrograde transport GO · q=2.11e-13
Cluster 132	11	Antithrombin deficiency, Bronchiolitis, Cerebral thrombosis, Craniocerebral trauma, Diffuse panbronchiolitis and 6 more	blood coagulation GO · q=5.26e-13
Cluster 133	11	Benign recurrent intrahepatic cholestasis, Cholelithiasis, Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, Congenital hepatic fibrosis, sclerosing cholangiopathy and high-ggt cholestasis, Hyperbiliverdinemia and 6 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=9.91e-19
Cluster 134	11	Asthma, aspirin-induced, susceptibility to, Autosomal recessive limb-girdle muscular dystrophy, Congenital merosin-deficient muscular dystrophy, Limb-girdle muscular dystrophy, Muscular dystrophy and 6 more	Cytoskeleton in muscle cells Pathway · q=4.85e-24
Cluster 135	11	Atrioventricular septal defect, Chromosome 8p23.1 monosomy, Congenital heart disease with or without pancreatic hypoplasia or diabetes, Congenital pulmonary valve atresia, Holt-oram syndrome and 6 more	atrioventricular canal development GO · q=7.16e-6
Cluster 136	11	B cell expansion with nfkb and t cell anergy (benta), autosomal dominant, B-cell expansion with nfkb and t-cell anergy, Benta disease, Congenital cardiovascular anomaly, Epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly and 6 more	positive regulation of mesenchymal cell proliferation GO · q=5.14e-3
Cluster 137	11	Blepharophimosis syndrome, Blepharophimosis-intellectual disability syndrome, Genitopatellar syndrome, KAT6B-related disorders, Multisystemic smooth muscle dysfunction syndrome and 6 more	negative regulation of endodermal cell differentiation GO · q=1.76e-5
Cluster 138	11	Clear cell sarcoma, Desmoplastic small round cell tumor, Extraskeletal myxoid chondrosarcoma, Malignant peripheral nerve sheath tumor, Malignant soft tissue neoplasm and 6 more	Pathways in cancer Pathway · q=1.77e-30
Cluster 139	11	Colon inflammatory polyp, Congenital respiratory system anomaly, Eosinophilic leukemia, Gastrointestinal polyp, Gastrointestinal stromal tumor/gist-plus syndrome, somatic or familial and 6 more	face morphogenesis GO · q=6.62e-6
Cluster 140	11	Jarcho-levin syndrome, Klippel-feil syndrome, Klippel-feil syndrome 2, Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism, Leukodystrophy and acquired microcephaly with or without dystonia and 6 more	somite rostral/caudal axis specification GO · q=1.93e-8
Cluster 141	11	Eye abnormalities, Frank-ter haar syndrome, Holoprosencephaly 3, Intellectual developmental disorder, autosomal dominant 74, Microphthalmia with coloboma 5 and 6 more	eye development GO · q=1.10e-6
Cluster 142	10	11p11.2 deletion syndrome, Exostoses, Exostoses, multiple, type 1, Exostoses, multiple, type 2, Frontonasal dysplasia with alopecia and genital anomaly and 5 more	fluid transport GO · q=4.25e-4
Cluster 143	10	17q21.31 microdeletion syndrome, Chromosome 17 deletion, Chromosome 17q21.31 deletion syndrome, Delayed psychomotor development, Dysgenesis of corpus callosum and 5 more	Stabilization of p53 Pathway · q=8.51e-4
Cluster 144	10	Amino acid metabolism disorder, Argininosuccinic aciduria, Cystathioninuria, Hyperammonemia, Lysinuric protein intolerance and 5 more	urea cycle GO · q=3.18e-14
Cluster 145	10	3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia, Hyperthermia, Hypochromic anemia, Hypochromic microcytic anemia, Iron deficiency anemia and 5 more	intracellular iron ion homeostasis GO · q=5.11e-14
Cluster 146	10	Bell's palsy, Charcot-Marie-Tooth disease axonal type 2CC, Conjunctival disease, Giant axonal neuropathy, Lathosterolosis and 5 more	Antifolate resistance Pathway · q=1.12e-8
Cluster 147	10	Amyotrophic lateral sclerosis type 18, Autosomal recessive osteopetrosis 5, Bone disease, Bone fracture, Dupuytren contracture and 5 more	skeletal system development GO · q=1.21e-13
Cluster 148	10	Annular epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma, Diffuse nonepidermolytic palmoplantar keratoderma, Epidermolytic hyperkeratosis 1, Epidermolytic ichthyosis and 5 more	response to oxidative stress GO · q=1.36e-7
Cluster 149	10	Accessory skin tag, Acrokeratosis verruciformis, Amyloidosis, hereditary systemic 4, finnish type, Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2C and 5 more	elastic fiber assembly GO · q=8.09e-10
Cluster 150	10	Acheiropody, Hypoplasia or aplasia of tibia with polydactyly, Hypoplastic or aplastic tibia with polydactyly, Laurin-sandrow syndrome, Metacarpal 4-5 fusion and 5 more	embryonic digit morphogenesis GO · q=3.46e-10
Cluster 151	10	Achondrogenesis, Atelosteogenesis, Atelosteogenesis ii (includes clefting), De la chapelle dysplasia, Diastrophic dysplasia and 5 more	cartilage development involved in endochondral bone morphogenesis GO · q=1.21e-3
Cluster 152	10	Adenomatous polyposis, Amyloidosis, hereditary systemic 1, Dystransthyretinemic euthyroidal hyperthyroxinemia, Familial adenomatous polyposis, Hyperthyroxinemia and 5 more	Displacement of DNA glycosylase by APEX1 Pathway · q=4.23e-4
Cluster 153	10	Ataxia, spastic, autosomal dominant, Congenital myasthenic syndrome, Congenital myasthenic syndrome 8, Fetal akinesia deformation sequence, Myasthenic syndrome and 5 more	synaptic transmission, cholinergic GO · q=2.39e-10
Cluster 154	10	Corticosterone methyloxidase deficiency, Cushing syndrome, Familial hypoaldosteronism, Glucocorticoid-remediable aldosteronism, Hyperaldosteronism and 5 more	Cushing syndrome Pathway · q=2.92e-10
Cluster 155	10	Alkylglycerone-phosphate synthase deficiency, Early-onset epilepsy, Epileptic encephalopathy, early infantile, 56, Glyceronephosphate O-acyltransferase deficiency, Mental retardation, autosomal dominant 13 and 5 more	ether lipid biosynthetic process GO · q=2.20e-7
Cluster 156	10	Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Congenital camptodactyly, Developmental delay with facial dysmorphism syndrome, Discordant ventriculoarterial connection, Down syndrome and 5 more	Metabolism of folate and pterines Pathway · q=1.54e-4
Cluster 157	10	Capillary-lymphatic-venous malformation, Congenital cleft hand, Congenital malformation syndromes predominantly involving limbs, Klippel-trenaunay syndrome, Microphthalmia with limb anomalies and 5 more	positive regulation of transcription by RNA polymerase II GO · q=5.29e-7
Cluster 158	10	Aminoacylase deficiency, Baraitser-winter cerebrofrontofacial syndrome, Baraitser-winter syndrome 1, Becker nevus syndrome, Congenital smooth muscle hamartoma and 5 more	EPHB-mediated forward signaling Pathway · q=8.50e-5
Cluster 159	10	Amphetamine or sympathomimetic abuse, Catalepsy, Delirium, Disruptive impulse-control and conduct disorder, Dyskinesia, drug-induced and 5 more	Neuroactive ligand-receptor interaction Pathway · q=1.96e-20
Cluster 160	10	Amyotrophic lateral sclerosis type 11, Bilateral parasagittal parieto-occipital polymicrogyria, Childhood-onset basal ganglia degeneration syndrome, Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia (yunis-varon syndrome), Hypogonadotropic hypogonadism 1 with or without anosmia and 5 more	Prostate cancer Pathway · q=4.70e-5
Cluster 161	10	Female infertility, Oocyte maturation defect, Oocyte/zygote/embryo maturation arrest 1, Oocyte/zygote/embryo maturation arrest 11, Oocyte/zygote/embryo maturation arrest 14 and 5 more	uterus development GO · q=2.09e-8
Cluster 162	10	Autosomal dominant sensorineural deafness, Cinca syndrome, Cold urticaria, familial, Deafness, autosomal dominant 34, with or without inflammation, Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 and 5 more	actin filament-based movement GO · q=1.55e-3
Cluster 163	10	Chondroma, Combined d-2- and l-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, Gemistocytic astrocytoma, Hemangioma and 5 more	Central carbon metabolism in cancer Pathway · q=2.33e-11
Cluster 164	10	Androgen insensitivity syndrome, Bladder clear cell adenocarcinoma, Bulbo-spinal atrophy, x-linked, Hypospadias 1, x-linked, Iatrogenic kaposi's sarcoma and 5 more	DNA damage response GO · q=2.03e-4
Cluster 165	10	Anophthalmia, Anophthalmia/microphthalmia-esophageal atresia syndrome, Colobomatous microphthalmia, Congenital cystic eyeball, Isolated microphthalmia 6 and 5 more	camera-type eye development GO · q=5.64e-26
Cluster 166	10	B-cell lymphopenia, Digit abnormalities, Hyperpituitarism, Hypocellular bone marrow, Hypogammaglobulinemia and 5 more	response to estrogen GO · q=9.27e-4
Cluster 167	10	Cardiofaciocutaneous syndrome, Congenital arteriovenous malformation, Costello syndrome, Fibromatosis, gingival, 1, Leopard syndrome and 5 more	Ras signaling pathway Pathway · q=2.15e-18
Cluster 168	10	Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Bockenheimer syndrome, Congenital venous anomaly, Glomulovenous malformations and 5 more	Tie2 Signaling Pathway · q=1.44e-5
Cluster 169	10	Blood vessel neoplasm, Conjunctival nevus, Familial multiple nevi flammei, Hemangioma of choroid, Malignant myoepithelioma and 5 more	Hepatocellular carcinoma Pathway · q=1.04e-5
Cluster 170	10	Arthralgia, Bone marrow neoplasms, Exanthema, Hyper-igd syndrome, Hyper-immunoglobulin d syndrome and 5 more	isoprenoid biosynthetic process GO · q=8.69e-4
Cluster 171	10	Asplenia, Atrial septal defect 7, with or without av conduction defects, Congenital asplenia, Congenital septal defect of heart, Deletion 5q35 syndrome and 5 more	endocardial cushion development GO · q=9.31e-6
Cluster 172	10	C5 deficiency, Cold paroxysmal hemoglobinuria, Developmental and epileptic encephalopathy, 55, Hemoglobinuria paroxysmal, Intellectual developmental disorder seizures dysmorphic skeletal and 5 more	Staphylococcus aureus infection Pathway · q=1.29e-5
Cluster 173	10	Autosomal dominant, spinal muscular atrophy, lower extremity-predominant, 2b, autosomal dominant, Axonal hereditary motor and sensory neuropathy, Cerebral cortical atrophy, Childhood-onset spinal muscular atrophy, Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation and 5 more	COPI-independent Golgi-to-ER retrograde traffic Pathway · q=3.72e-3
Cluster 174	10	Bart-pumphrey syndrome, Deafness, autosomal dominant 3a, Deafness, autosomal recessive 1a, Deafness, digenic, Hystrix-like ichthyosis with deafness and 5 more	cell communication GO · q=3.07e-3
Cluster 175	10	Congenital hypothyroidism due to absence of thyroid gland, Congenital hypothyroidism non-goitrous type 2, Familial gestational hyperthyroidism, Hypothyroidism, congenital, non-goitrous, 1, Smith-lemli-opitz syndrome and 5 more	thyroid-stimulating hormone signaling pathway GO · q=5.29e-5
Cluster 176	10	Congenital inability to experience pain, Congenital insensitivity to pain, Congenital pain insensitivity, Episodic pain syndrome, Erythromelalgia and 5 more	sensory perception of pain GO · q=4.96e-9
Cluster 177	10	Brain small vessel disease 1 with or without ocular anomalies, Cerebral microangiopathy, Cognitive impairment, COL4A1-related disorder, Colpocephaly and 5 more	renal tubule morphogenesis GO · q=1.46e-2
Cluster 178	10	Carbamoyl phosphate synthetase deficiency, Congenital facial anomaly, Congenital hyperammonemia, Congenital hypoplastic anemia, Developmental and epileptic encephalopathy, 50 and 5 more	'de novo' pyrimidine nucleobase biosynthetic process GO · q=4.88e-8
Cluster 179	10	Deafness-lymphedema-leukemia syndrome, Dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency, Emberger syndrome, Gata2 deficiency, Leukemia, acute myeloid, susceptibility to and 5 more	negative regulation of cell growth GO · q=5.63e-5
Cluster 180	10	Congenital malrotation of intestine, Desmosterolosis, Hydrops fetalis, Hypomyelinating leukodystrophy 2, Lymphatic malformation and 5 more	Tie2 Signaling Pathway · q=1.45e-4
Cluster 181	10	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 5 more	Recycling of eIF2:GDP Pathway · q=1.67e-13
Cluster 182	10	Ciliary dyskinesia, primary, 38, Heterotaxy syndrome, Heterotaxy, visceral, 10, autosomal, with male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, Left-right axis malformations and 5 more	determination of left/right symmetry GO · q=2.65e-21
Cluster 183	10	Familial hypercholesterolemia, Gallbladder disease, Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, familial, 1, Hypoalphalipoproteinemia and 5 more	Cholesterol metabolism Pathway · q=2.11e-13
Cluster 184	10	Complex spastic paraplegia, Cutis laxa, autosomal dominant 3, Cutis laxa, autosomal recessive, 3a, Cutis laxa, corneal clouding, and mental retardation, De barsy syndrome and 5 more	ornithine biosynthetic process GO · q=3.05e-3
Cluster 185	10	Crash syndrome, Hydrocephalus due to aqueductal stenosis, L1 syndrome, Masa syndrome, Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome and 5 more	Recycling pathway of L1 Pathway · q=6.90e-4
Cluster 186	10	Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Feingold syndrome, Hereditary myopathy with early respiratory failure, Myopathy, dominant-negative TTNsv and 5 more	skeletal muscle myosin thick filament assembly GO · q=8.81e-3
Cluster 187	9	Complex cortical dysplasia with other brain malformations, Congenital fibrosis of extraocular muscles, Cortical development malformation, Cortical dysplasia with other brain malformations, Goldberg-Shprintzen syndrome and 4 more	microtubule cytoskeleton organization GO · q=2.62e-15
Cluster 188	9	Angelman syndrome, Bruxism, CDKL5 disorder, Congenital retinal aneurysm, Congenital retinal anomaly and 4 more	synaptic transmission, GABAergic GO · q=3.07e-5
Cluster 189	9	15q24 microdeletion, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, Cardiac, facial, and digital anomalies with developmental delay, Chromosome 15q24 deletion syndrome, Cleft palate cardiac defects impaired intellectual development and 4 more	Regulation of lipid metabolism by PPARalpha Pathway · q=3.80e-4
Cluster 190	9	Carpal tunnel syndrome, Congenital cartilage disorder, Copper metabolism disorder, Osteochondrodysplasias, Spondyloepimetaphyseal dysplasia and 4 more	ECM proteoglycans Pathway · q=3.72e-10
Cluster 191	9	Cleft lip, Cleft lip and palate, Cleft palate, Complete unilateral cleft lip, Craniosynostosis and 4 more	skeletal system development GO · q=7.75e-16
Cluster 192	9	Chromosome 22q11.2 microduplication syndrome, Common arterial trunk with aortic dominance, Common arterial trunk with pulmonary dominance and interrupted aortic arch, Congenital heart disease with or without pancreatic agenesis or neonatal diabetes, Conotruncal anomaly face syndrome and 4 more	outflow tract septum morphogenesis GO · q=8.24e-8
Cluster 193	9	5-oxoprolinuria, Anemia, congenital, non-spherocytic hemolytic, 6, Enzyme disorder, Glutathione synthetase deficiency without 5-oxoprolinuria, Hereditary hemolytic anemia and 4 more	response to cadmium ion GO · q=2.65e-4
Cluster 194	9	Abnormality of movement, Axial hypotonia, Ectopic thyroid tissue, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements and 4 more	Presynaptic depolarization and calcium channel opening Pathway · q=8.38e-4
Cluster 195	9	Autosomal systemic lupus erythematosus type 16, Candidiasis, familial, 6, Crest syndrome, Dermatomyositis, Diffuse cutaneous systemic sclerosis and 4 more	Inflammatory bowel disease Pathway · q=1.16e-17
Cluster 196	9	Failure to thrive, Growth failure, Hepatic disease, Lowry-wood syndrome, Microcephalic osteodysplastic primordial dwarfism and 4 more	mRNA 5'-splice site recognition GO · q=3.35e-3
Cluster 197	9	Abnormally shaped ears, Arched eyebrows, Deafness, autosomal dominant 20/26, Hearing loss, sensorineural, bilateral, progressive, Large mouth and 4 more	regulation of transepithelial transport GO · q=5.03e-3
Cluster 198	9	Amyloidosis, Amyloidosis, hereditary systemic 6, Amyloidosis, primary localized cutaneous, 2, Apolipoprotein c-ii deficiency, Beta2-microglobulinic amyloidosis and 4 more	Amyloid fiber formation Pathway · q=9.21e-11
Cluster 199	9	Ectodermal dysplasia, Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, Ectodermal dysplasia 13, hair/tooth type, Ectodermal dysplasia 15, hypohidrotic/hair type, Ectodermal dysplasia 4, hair/nail type and 4 more	odontogenesis of dentin-containing tooth GO · q=6.40e-12
Cluster 200	9	Central areolar choroidal dystrophy, Choroidal dystrophy, Choroidal sclerosis, Choroideremia, Cone dystrophy 3 and 4 more	visual perception GO · q=2.07e-13
Cluster 201	9	Brown oculocutaneous albinism, Congenital nystagmus, Eye neoplasms, Oculocutaneous albinism, Oculocutaneous albinism type 2 and 4 more	melanin biosynthetic process GO · q=2.25e-13
Cluster 202	9	Acral peeling skin syndrome, Erythema, Erythroderma, Exfoliative ichthyosis, ichthyosis bullosa of siemens-like, Hyperhidrosis and 4 more	Formation of the cornified envelope Pathway · q=8.56e-4
Cluster 203	9	Cerebralpalsy, spasticquadriplegic,1, Continuous spike and wave during sleep syndrome, Continuous spike and wave during slow wave sleep syndrome, Epilepsy with neurodevelopmental defects, Focal epilepsy with speech disorder and impaired intellectual development and 4 more	sodium ion transmembrane transport GO · q=2.36e-3
Cluster 204	9	Angiofibroma, Appendix neuroendocrine tumor g1, Desmoid tumor, Desmoplastic fibroma, Intestinal neoplasms and 4 more	Endometrial cancer Pathway · q=4.76e-15
Cluster 205	9	Adrenocortical carcinoma, Bile duct neoplasms, Diffuse midline glioma, Esophageal leukoplakia, Hepatoid adenocarcinoma and 4 more	Endometrial cancer Pathway · q=2.75e-8
Cluster 206	9	Adrenocorticotropic hormone-producing pituitary gland carcinoma, Brain compression, Breast cyst, Large cell medulloblastoma, Pituitary adenoma 4, adrenocorticotropic hormone-secreting and 4 more	negative regulation of transcription by RNA polymerase II GO · q=2.40e-3
Cluster 207	9	Cri-du-chat syndrome, Dyskeratosis congenita, autosomal dominant 2, Dyskeratosis congenita, autosomal recessive 4, Macrocytic anemia, Melanoma, cutaneous malignant, 9 and 4 more	Gastric cancer Pathway · q=9.97e-4
Cluster 208	9	Cutaneous squamous cell carcinoma, Erythematosquamous dermatosis, Histidinemia, Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, Pityriasis rubra pilaris and 4 more	Herpes simplex virus 1 infection Pathway · q=4.96e-6
Cluster 209	9	Agat deficiency, Arginine-glycine amidinotransferase deficiency, Bifunctional enzyme deficiency, D-bifunctional protein deficiency, De toni-debre-fanconi syndrome and 4 more	fatty acid beta-oxidation GO · q=1.34e-6
Cluster 210	9	Anti-nmda receptor encephalitis, Joubert syndrome 3, Microscopic colitis, Selective iga deficiency disease, Selective immunoglobulin a deficiency and 4 more	Allograft rejection Pathway · q=5.51e-6
Cluster 211	9	Constipation, Eye pain, Hypocalcemia, Intellectual developmental disorder, autosomal dominant 66, Nausea and 4 more	Hormone signaling Pathway · q=4.25e-7
Cluster 212	9	Bartter syndrome, Bartter syndrome, type 5, antenatal, transient, Gitelman syndrome, Hyperoxaluria, Hyperoxaluria primary 2 and 4 more	chloride transmembrane transport GO · q=4.25e-12
Cluster 213	9	Arhinia-choanal atresia-microphthalmia syndrome, Bosma arhinia microphthalmia syndrome, Chediak-higashi syndrome, Facial nerve disorder, Facial palsy, congenital, with ptosis and velopharyngeal dysfunction and 4 more	dosage compensation by inactivation of X chromosome GO · q=8.69e-4
Cluster 214	9	Albinism, black locks, cell migration disorder of the neurocytes of the gut, and deafness, Colonic aganglionosis, Deafness, autosomal recessive 8/10, Hirschsprung disease, susceptibility to, 2, Intestinal aganglionosis and 4 more	melanocyte differentiation GO · q=1.85e-7
Cluster 215	9	Benign familial infantile convulsions, Coma, Early-onset dystonia with spastic paraplegia, Encephalopathy, Epileptic encephalopathy, early infantile, 82 and 4 more	olfactory cortex development GO · q=6.71e-3
Cluster 216	9	Asthma, Eczema, Inflammatory skin disease, Intellectual developmental disorder neuropsychiatric, Keratoderma, palmoplantar, nagashima type and 4 more	Inflammatory bowel disease Pathway · q=1.35e-25
Cluster 217	9	Anemia, congenital, non-spherocytic hemolytic, 1, Anemia, nonspherocytic hemolytic, Chronic granulomatous disease, x-linked, G6PD deficiency, Granulomatous disease and 4 more	Cross-presentation of particulate exogenous antigens (phagosomes) Pathway · q=8.62e-13
Cluster 218	9	Centronuclear myopathy, Congenital fiber type disproportion myopathy, Congenital myopathy, Congenital structural myopathy, Myopathy, centronuclear, 5 and 4 more	Cytoskeleton in muscle cells Pathway · q=1.87e-18
Cluster 219	9	Anti-glomerular basement membrane disease, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Berylliosis, Enteropathy, Haploinsufficiency and 4 more	Rheumatoid arthritis Pathway · q=2.06e-9
Cluster 220	9	Arachnoid cysts, Ciliary dyskinesia, primary, 42, Corpus callosum agenesis with abnormal genitalia, Epileptic encephalopathy early infantile type 1, Hydranencephaly with abnormal genitalia and 4 more	glycine receptor clustering GO · q=5.91e-3
Cluster 221	9	Arima syndrome, Encephalocele, Joubert syndrome 14, Joubert syndrome 17, Joubert syndrome with oculorenal defect and 4 more	cell projection organization GO · q=7.22e-12
Cluster 222	9	Benign carotid body paraganglioma, Chuvash erythrocytosis, Clear cell papillary cystadenoma, Endolymphatic sac tumor, Erythrocytosis due to tissue hypoxemia and 4 more	regulation of G1/S transition of mitotic cell cycle GO · q=2.70e-3
Cluster 223	9	Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, Calcium metabolism disorders, Calcium pyrophosphate deposition, Chondrocalcinosis and 4 more	skeletal system development GO · q=2.49e-3
Cluster 224	9	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis, Hypercalcemia, Hypercalciuria, Hypercalciuria absorptive 2, Hypophosphatemic nephrolithiasis/osteoporosis and 4 more	Parathyroid hormone synthesis, secretion and action Pathway · q=2.54e-11
Cluster 225	9	Benign samaritan congenital myopathy, Central core disease, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia, Congenital myopathy 1b, autosomal recessive and 4 more	cellular response to caffeine GO · q=3.09e-5
Cluster 226	9	Craniofaciosynostosis, Encephalocraniocutaneous lipomatosis, Hartsfield syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia and 4 more	Melanoma Pathway · q=1.38e-7
Cluster 227	9	Bilateral frontoparietal polymicrogyria, Bilateral perisylvian polymicrogyria, Heparin cofactor 2 deficiency, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, Perisylvian syndrome and 4 more	Aggrephagy Pathway · q=1.49e-4
Cluster 228	9	Cleft mandible, Clubfoot, Congenital clubfoot, Ehlers-danlos syndrome, musculocontractural type 1, Microtia and 4 more	olfactory nerve development GO · q=4.25e-4
Cluster 229	9	Blastoma, Dicer1 syndrome, Global developmental delay, lung cysts, overgrowth, and wilms tumor, Glow syndrome, Goiter, multinodular 1, with or without sertoli-leydig cell tumors and 4 more	negative regulation of heart looping GO · q=3.05e-3
Cluster 230	9	Kyphomelic dysplasia, Liver solitary fibrous tumor, Lung signet ring cell carcinoma, Lymphoepithelioma-like lung carcinoma, Neuroblastic tumor and 4 more	Non-small cell lung cancer Pathway · q=1.25e-10
Cluster 231	9	Ciliary dyskinesia, with or without situs inversus, Polynesian bronchiectasis, Primary ciliary dyskinesia 11, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 17 and 4 more	determination of left/right symmetry GO · q=1.76e-14
Cluster 232	9	Brachyolmia, Brachyolmia type 4 with mild epiphyseal and metaphyseal changes, Brachyrachia, Congenital benign spinal muscular atrophy, Digital arthropathy-brachydactyly, familial and 4 more	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO · q=3.24e-4
Cluster 233	9	Brain-lung-thyroid syndrome, Choreatic disease, Choreoathetosis, hypothyroidism and neonatal respiratory distress, Hereditary progressive chorea without dementia, Immunodeficiency-centromeric instability-facial anomalies syndrome 3 and 4 more	locomotory behavior GO · q=2.53e-3
Cluster 234	9	Bullous diffuse cutaneous mastocytosis, Embryonal carcinoma, Gingivitis, Hodgkin disease, Immunodeficiency 92 and 4 more	Lipid and atherosclerosis Pathway · q=1.97e-6
Cluster 235	9	Cerebral embolism, Hypercalcemic tumoral calcinosis, Hyperphosphatemic familial tumoral calcinosis 2, Hyperphosphatemic tumoral calcinosis, Infertility and 4 more	FGFR1c and Klotho ligand binding and activation Pathway · q=7.54e-5
Cluster 236	9	Cardioacrofacial dysplasia 1, Cardioacrofacial dysplasia 2, Cardiofacial dysplasia, Ellis-van creveld syndrome, Estrogen resistance and 4 more	Hedgehog signaling pathway Pathway · q=2.59e-7
Cluster 237	9	Congenital digestive system anomaly, Ectodermal dysplasia 17 with or without limb malformations, H syndrome, Histiocytosis-lymphadenopathy plus syndrome, Multiple endocrine neoplasia type 2A and 4 more	Thyroid cancer Pathway · q=1.35e-7
Cluster 238	9	Childhood myocerebrohepatopathy spectrum, Fanconi anemia complementation group i, Mitochondrial hepatopathy, Mitochondrial recessive ataxia syndrome (includes sando and scae), Neonatal convulsions and 4 more	mitochondrial DNA replication GO · q=3.66e-4
Cluster 239	9	Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, Dacryocystitis, Deficiency of interleukin-1 receptor antagonist, Ectodermal dysplasia and immunodeficiency 2, Interleukin 1 receptor antagonist deficiency and 4 more	Interleukin-1 signaling Pathway · q=1.16e-4
Cluster 240	9	Dent disease, Hypophosphatemic rickets, Hypophosphatemic rickets, autosomal recessive, 1, Hypophosphatemic rickets, hereditary, with hypercalciuria, Oculocerebrorenal syndrome and 4 more	intracellular phosphate ion homeostasis GO · q=1.28e-8
Cluster 241	9	Clear cell papillary renal cell carcinoma, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness, Commad syndrome, Melanoma, cutaneous malignant 8, Melanoma, cutaneous malignant, susceptibility to, 8 and 4 more	pigmentation GO · q=1.53e-3
Cluster 242	8	12q14 microdeletion syndrome, Buschke-ollendorff syndrome, Cardiofaciocutaneous syndrome 3, Dermatofibrosis lenticularis disseminata, Melorheostosis and 3 more	positive regulation of protein serine/threonine kinase activity GO · q=7.58e-4
Cluster 243	8	14q11.2 microduplication syndrome, Autism, susceptibility to, 18, Chromodomain helicase dna binding protein 8 overgrowth syndrome, Congenital corneal opacity, Congenital ptosis and 3 more	brain development GO · q=1.36e-4
Cluster 244	8	Chromosome 15q deletion syndrome, Congenital heart defects, Congenital heart disease, Conotruncal cardiac defect, Craniofacial abnormalities and 3 more	heart development GO · q=1.53e-48
Cluster 245	8	17p11.2 microduplication syndrome, Birt-hogg-dube syndrome, Carcinoma of parotid gland, Pneumothorax, Pneumothorax, primary spontaneous and 3 more	negative regulation of glial cell proliferation GO · q=1.42e-6
Cluster 246	8	Autosomal recessive spinocerebellar ataxia 2, Cerebelloparenchymal disorder, Lactic acidosis, Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Normal pressure hydrocephalus and 3 more	establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis GO · q=1.01e-2
Cluster 247	8	Holoprosencephaly, Holoprosencephaly 5, Holoprosencephaly-hypokinesia-congenital contractures syndrome, Microform holoprosencephaly, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures and 3 more	determination of left/right symmetry GO · q=7.02e-12
Cluster 248	8	Alport syndrome, Alport syndrome, x-linked, Digenic alport syndrome, Hearing loss, X-linked 6, Hematuria and 3 more	glomerular basement membrane development GO · q=1.63e-7
Cluster 249	8	Congenital neutropenia, Immunodeficiency 76, Neutropenia, Neutropenia, nonimmune chronic idiopathic, adult, Severe congenital neutropenia and 3 more	SRP-dependent cotranslational protein targeting to membrane GO · q=1.09e-7
Cluster 250	8	Hypogonadotropic hypogonadism 8 with or without anosmia, Mirage syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 2, Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy (mirage), Normophosphatemic familial tumoral calcinosis and 3 more	male gonad development GO · q=1.11e-3
Cluster 251	8	Congenital communicating hydrocephalus, Congenital hydrocephalus, Cryptospermia, Hydrocephalus, Hydrocephalus, congenital, 2, with or without brain or eye anomalies and 3 more	neural tube closure GO · q=1.66e-3
Cluster 252	8	Benign neoplasm of brain, Cortical dysplasia, Fibroma, Lung lymphangioleiomyomatosis, Lymphangioleiomyomatosis and 3 more	chromatin remodeling GO · q=5.28e-6
Cluster 253	8	Cardiac septal defects, Congenital malformations, Encephalopathy, acute, infection-induced, 5, herpes-specific, Hearing impairment, Herpes simplex encephalitis, susceptibility to, 3 and 3 more	ossification GO · q=1.01e-2
Cluster 254	8	Abnormality of head or neck, Chromosome xq25 duplication syndrome, Clinodactyly of the 5th finger, Developmental delay with microcephaly and congenital anomalies, Growth delay and 3 more	spermidine metabolic process GO · q=6.71e-3
Cluster 255	8	Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system, Craniofacial neurological cardiovascular and skeletal features (turnpenny-fry syndrome), Feeding difficulties and 3 more	transcription elongation by RNA polymerase II GO · q=5.50e-4
Cluster 256	8	Abnormality of the genital system, Abnormality of the skin, Alopecia, Alopecia-intellectual disability syndrome, Amr syndrome and 3 more	triterpenoid biosynthetic process GO · q=7.47e-3
Cluster 257	8	Aceruloplasminemia, Apoceruloplasmin deficiency, Ferroxidase deficiency, Hemochromatosis type 4, Hemosiderosis and 3 more	Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) Pathway · q=2.29e-6
Cluster 258	8	Anemia, congenital, non-spherocytic hemolytic, 5, Carbohydrate metabolism disease, Hexokinase deficiency, Intestinal disaccharide malabsorption, Neurodevelopmental disorder with visual defects and brain anomalies and 3 more	regulation of insulin secretion GO · q=5.82e-6
Cluster 259	8	Atrophia bulborum heritaria, Coats disease, Exudative retinopathy, Exudative vitreoretinopathy, Exudative vitreoretinopathy 2, x-linked and 3 more	Norrin signaling pathway GO · q=2.30e-9
Cluster 260	8	Acrodysostosis, Acrodysostosis 1, with or without hormone resistance, Atrial myxoma, Melanotic neurilemmoma, Oncocytic neoplasm and 3 more	positive regulation of cell differentiation GO · q=8.03e-4
Cluster 261	8	Developmental and epileptic encephalopathy, 41, Dry eye syndrome, Hypotonia, infantile, with psychomotor retardation, Kawasaki disease, Myositis and 3 more	Inflammatory bowel disease Pathway · q=9.74e-19
Cluster 262	8	Erythrocytosis, familial, 4, Gastrin-producing neuroendocrine tumor, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Pancreatic glucagonoma and 3 more	Cushing syndrome Pathway · q=3.42e-9
Cluster 263	8	Acromesomelic dysplasia, Autosomal recessive craniosynostosis, Congenital scoliosis, Craniosynostosis and dental anomalies, Dermatosparaxis ehlers-danlos syndrome and 3 more	chondrocyte differentiation GO · q=8.98e-6
Cluster 264	8	Agammaglobulinemia 7, autosomal recessive, Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, Diffuse idiopathic skeletal hyperostosis, Immunodeficiency 122, Immunodeficiency 36 with lymphoproliferation and 3 more	Thyroid hormone signaling pathway Pathway · q=3.16e-4
Cluster 265	8	Agammaglobulinemia, Agammaglobulinemia 2, autosomal recessive, Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 4, autosomal recessive, Autosomal agammaglobulinemia and 3 more	B cell differentiation GO · q=1.33e-12
Cluster 266	8	Alpha/beta t-cell lymphopenia, with gamma/delta t-cell expansion, severe cytomegalovirus infection and autoimmunity, Combined cellular and humoral immune defects with granulomas, Combined immunodeficiency with granulomatosis, Recombinase activating gene 1 deficiency, Recombinase activating gene 2 deficiency and 3 more	V(D)J recombination GO · q=9.30e-10
Cluster 267	8	Anaphylaxis, Anterior cruciate ligament injury, Congenital high-molecular-weight kininogen deficiency, Extravasation of diagnostic and therapeutic materials, Hyperemia and 3 more	inflammatory response GO · q=5.40e-11
Cluster 268	8	Bile acid malabsorption, Brain disease, Cognition disorder, Delirium, dementia, and cognitive disorders, Diabetes complications and 3 more	negative regulation of gene expression GO · q=6.36e-10
Cluster 269	8	Macular telangiectasia, Neu-laxova syndrome, Neu-laxova syndrome 1, Neurometabolic disorder, Phosphoglycerate dehydrogenase deficiency and 3 more	L-serine biosynthetic process GO · q=2.73e-6
Cluster 270	8	Aminoaciduria, Diabetic foot, Hepatic insufficiency, Hepatomegaly, Moyamoya disease 6 with or without achalasia and 3 more	response to hypoxia GO · q=1.24e-11
Cluster 271	8	Becker muscular dystrophy, Benign congenital myopathy, Blepharoptosis, Clinodactyly, Duchenne muscular dystrophy and 3 more	Hedgehog 'off' state Pathway · q=2.67e-5
Cluster 272	8	Bone neoplasms, Cerebrovascular trauma, Combined hyperlipidemia, familial, Connective tissue neoplasm, Coronary syndrome and 3 more	embryo implantation GO · q=2.51e-3
Cluster 273	8	Diabetes mellitus, Diabetic eye disease, Diabetic neuropathy, Diabetic retinopathy, Gestational diabetes and 3 more	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction GO · q=1.98e-11
Cluster 274	8	Creutzfeldt-jakob disease, Dementia in huntington's disease, Fatal familial insomnia, Gerstmann-straussler-scheinker syndrome, Kahrizi syndrome and 3 more	ERBB2-EGFR signaling pathway GO · q=3.77e-3
Cluster 275	8	Beta thalassemia, Digenic hemochromatosis, Hemochromatosis, Hemochromatosis type 2A, Hemochromatosis type 2B and 3 more	multicellular organismal-level iron ion homeostasis GO · q=6.55e-21
Cluster 276	8	C1 esterase inhibitor deficiency, C4b deficiency, C6 deficiency, C7 deficiency, C8 deficiency, type i and 3 more	complement activation, GZMK pathway GO · q=1.63e-26
Cluster 277	8	Anodontia, Ectodermal dysplasia 3, witkop type, Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, Severe neonatal spondylometaphyseal dysplasia, Tooth agenesis, selective, 1 and 3 more	bone morphogenesis GO · q=3.99e-3
Cluster 278	8	Anonychia, Bent bone dysplasia, Campomelic dysplasia, Campomelic dysplasia with autosomal sex reversal, Cooks syndrome and 3 more	prostate gland morphogenesis GO · q=7.07e-5
Cluster 279	8	Cerebral folate deficiency, Diabetic macular edema, Dias-logan syndrome, Intellectual developmental disorder hemoglobin persistence, Intellectual developmental disorder, autosomal dominant 45 and 3 more	bone trabecula morphogenesis GO · q=1.04e-3
Cluster 280	8	Catatonia, Essential tremor, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neuronal intranuclear inclusion disease and 3 more	adenylate cyclase-inhibiting serotonin receptor signaling pathway GO · q=1.15e-3
Cluster 281	8	Arterial calcification, generalized, of infancy, Arterial calcification, generalized, of infancy, 2, Desbuquois dysplasia, Dubin-johnson syndrome, Inherited pseudoxanthoma elasticum and 3 more	proteoglycan biosynthetic process GO · q=1.28e-8
Cluster 282	8	Arterial calcification, generalized, of infancy, 1, Cole disease, Coronary medial sclerosis of infancy, Crystal arthropathy, Generalised arterial calcification of infancy and hypophosphatemic rickets and 3 more	negative regulation of hh target transcription factor activity GO · q=5.03e-3
Cluster 283	8	Arteritis, Capillary leak syndrome, Central retinal vein occlusion, Congenital thrombotic thrombocytopenic purpura, Hereditary thrombophilia due to congenital protein C deficiency and 3 more	response to toxic substance GO · q=2.78e-4
Cluster 284	8	Bryant-li-bhoj neurodevelopmental syndrome, Childhood cancer retinoblastoma, Diffuse hemispheric glioma, h3 g34-mutant, Hemiparkinsonism hemiatrophy syndrome, Mixed neuronal-glial tumor and 3 more	Melanoma Pathway · q=2.84e-11
Cluster 285	8	Bestrophinopathy, Hemochromatosis type 5, Iron overload, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Neurodegeneration with brain iron accumulation and 3 more	intracellular iron ion homeostasis GO · q=8.38e-12
Cluster 286	8	Atrial septal defect with or without hypoplastic left heart syndrome, Atrioventricular excitation abnormality, Bile duct disease, Dilated cardiomyopathy 1EE, Glycogen storage disease of heart lethal congenital and 3 more	Oxytocin signaling pathway Pathway · q=2.15e-4
Cluster 287	8	Atypical lobular breast hyperplasia, Bilateral cleft lip, Blepharocheilodontic syndrome, Cleft lip with or without cleft palate, Diffuse gastric and lobular breast cancer syndrome and 3 more	cell-cell adhesion mediated by cadherin GO · q=2.42e-6
Cluster 288	8	Biliary atresia, Central hypoventilation syndrome, Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease and 3 more	neural crest cell migration GO · q=1.22e-12
Cluster 289	8	Reducing body myopathy, Reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset, Reducing body myopathy, x-linked 1b, with late childhood or adult onset, Uruguay faciocardiomusculoskeletal syndrome, X-linked emery-dreifuss muscular dystrophy and 3 more	muscle organ development GO · q=5.12e-3
Cluster 290	8	Autoimmune disease, multisystem, infantile-onset, 1, Breast implant-associated anaplastic large cell lymphoma, Copper overload cirrhosis, Early-onset multisystem autoimmune disease, Hyper-immunoglobulin e recurrent infection syndrome 1, autosomal dominant and 3 more	Pathways in cancer Pathway · q=6.97e-9
Cluster 291	8	Conjunctivitis, Dysplasminogenemia, Hypoplasminogenemia, Laryngeal disease, Leukocyte disorders and 3 more	Complement and coagulation cascades Pathway · q=1.68e-2
Cluster 292	8	Autoimmune neurological syndrome, Charcot-Marie-Tooth disease type 2A2, Deafness, autosomal recessive 124, Epileptic encephalopathy, early infantile, 47, Lipomatosis, multiple symmetric, with or without peripheral neuropathy and 3 more	late endosome to vacuole transport via multivesicular body sorting pathway GO · q=7.60e-3
Cluster 293	8	Autoinflammation with episodic fever and lymphadenopathy, 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 and 3 more	interleukin-10-mediated signaling pathway GO · q=7.42e-7
Cluster 294	8	Basal laminar drusen, Central serous retinopathy, Choroid diseases, Dense deposit disease, Factor h deficiency and 3 more	regulation of complement-dependent cytotoxicity GO · q=6.80e-4
Cluster 295	8	Behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Chung-jansen syndrome, Developmental delay with intellectual disability and obesity, Dysmorphic facies, Hemorrhagic stroke and 3 more	regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling GO · q=1.37e-2
Cluster 296	8	Benign infantile epilepsy, Benign neonatal epilepsy, Benign neonatal-infantile seizures, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy early infantile type 7 and 3 more	monoatomic ion transport GO · q=1.11e-9
Cluster 297	8	Chorioretinal atrophy, Deafness, aminoglycoside-induced, Deafness, nonsyndromic sensorineural, mitochondrial, Deafness, sensorineural, autosomal-mitochondrial type, External ophthalmoplegia and 3 more	Respiratory electron transport Pathway · q=9.90e-4
Cluster 298	8	Biotinidase deficiency, Brachydactyly-syndactyly syndrome, Brachymesophalangy, Cryptorchidism, Ghosal hematodiaphyseal dysplasia and 3 more	face morphogenesis GO · q=1.35e-5
Cluster 299	8	Caffey disease, Combined osteogenesis imperfecta and ehlers-danlos syndrome, Cortical congenital hyperostosis, Ehlers-danlos syndrome due to tenascin x deficiency, Ehlers-danlos syndrome, cardiac valvular type and 3 more	ECM proteoglycans Pathway · q=6.73e-9
Cluster 300	8	Boichis syndrome, Cerebellar malformation, Chylomicron retention disease, Joubert syndrome with hepatic defect, Meckel syndrome 3 and 3 more	lipid export from cell GO · q=8.13e-3
Cluster 301	8	C1q deficiency, C1s deficiency, C4a deficiency, Complement pathway abnormality, Immunodeficiency due to a classical component pathway complement deficiency and 3 more	Initial triggering of complement Pathway · q=2.47e-21
Cluster 302	8	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, Mitochondrial dna depletion syndrome, Mitochondrial myopathy, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy and 3 more	mitochondrial DNA replication GO · q=3.19e-16
Cluster 303	8	Cleft eyelid, Coloboma, Coloboma, ocular, autosomal recessive, Congenital iris coloboma, Congenital ocular coloboma and 3 more	camera-type eye development GO · q=2.50e-8
Cluster 304	8	Epiphyseal chondrodysplasia, miura type, Familial focal epilepsy with variable foci, Focal epilepsy, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy with renal failure and 3 more	regulation of protein localization to plasma membrane GO · q=5.77e-4
Cluster 305	8	Cerebroretinal microangiopathy with calcifications and cysts, Coats plus syndrome, Congenital chromosomal disease, Melanoma, cutaneous malignant, susceptibility to, 10, Rauch-steindl syndrome and 3 more	replicative senescence GO · q=4.72e-8
Cluster 306	8	Chudley-mccullough syndrome, Elliptocytosis 1, Elliptocytosis 3, Hereditary elliptocytosis, Neonatal anemia and 3 more	'de novo' UMP biosynthetic process GO · q=1.02e-7
Cluster 307	8	Colorectal cancer, hereditary nonpolyposis, type 7, Hereditary mixed polyposis syndrome, Intestinal polyposis, Juvenile polyp, Juvenile polypopsis syndrome, infantile form and 3 more	outflow tract septum morphogenesis GO · q=1.23e-5
Cluster 308	8	Childhood-onset glut1 deficiency syndrome 2, Chromosome 17q23.1-q23.2 deletion syndrome, Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), Epilepsy with myoclonic absence, Glucose transporter type 1 deficiency syndrome and 3 more	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) Pathway · q=2.59e-3
Cluster 309	8	Cholecystitis, Hereditary spastic paraplegia 11, Intellectual developmental disorder, autosomal dominant 7, Male infertility spermatogenesis disorder, Mental retardation, autosomal dominant 7 and 3 more	cilium organization GO · q=1.55e-3
Cluster 310	8	Coffin-lowry syndrome, Colonic disease, Developmental delay with behavioral abnormalities, Growth hormone insensitivity syndrome, Growth hormone insensitivity syndrome with immune dysregulation and 3 more	Growth hormone receptor signaling Pathway · q=2.26e-5
Cluster 311	8	Colorectal cancer susceptibility, Facial dysmorphism, immunodeficiency, livedo, and short stature, Fils syndrome, Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency, Paraquat lung disease and 3 more	DNA replication proofreading GO · q=3.45e-5
Cluster 312	8	Congenital sensorineural hearing loss, Deafness with congenital and adult-onset progressive leukodystrophy, Deafness, autosomal dominant 15, Deafness, autosomal recessive 3, Deafness, autosomal recessive 42 and 3 more	sensory perception of sound GO · q=3.53e-5
Cluster 313	8	Deaf blind hypopigmentation syndrome, Pcwh syndrome, Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, and hirschsprung disease, Waardenburg syndrome type 2e, Waardenburg syndrome type 4C and 3 more	positive regulation of gliogenesis GO · q=3.05e-3
Cluster 314	7	Amblyopia, Astigmatism, Christianson syndrome, Dyschromatopsia, Fetal anomalies and 2 more	detection of light stimulus involved in visual perception GO · q=4.33e-4
Cluster 315	7	Dopamine transporter deficiency syndrome, Mild cognitive impairment, Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, Nicotine dependence, protection against, Paranoia and 2 more	monoamine transport GO · q=1.11e-3
Cluster 316	7	17p13.3 microduplication syndrome, Chromosome 17p13.3 microdeletion syndrome, Clear cell sarcoma of kidney, Endometrial stromal sarcoma, Miller-dieker syndrome and 2 more	negative regulation of transcription by RNA polymerase II GO · q=7.71e-3
Cluster 317	7	1p36.33 duplication syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Contracture, Disorder with global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, Harel-yoon syndrome and 2 more	mitochondrion organization GO · q=5.61e-3
Cluster 318	7	Haim-munk syndrome, Paganini-miozzo syndrome, Papillon-lefevre syndrome, Periodontal disease, Periodontitis and 2 more	Arrhythmogenic right ventricular cardiomyopathy Pathway · q=4.15e-4
Cluster 319	7	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, Mucopolysaccharidosis, Mucopolysaccharidosis type 3C, Mucopolysaccharidosis type 3D, Mucopolysaccharidosis type iiic (sanfilippo c) and 2 more	Glycosaminoglycan degradation Pathway · q=4.82e-24
Cluster 320	7	20p12.3 microdeletion syndrome, Hfe hemochromatosis, modifier of, Right ventricle hypoplasia, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 and 2 more	positive regulation of osteoblast differentiation GO · q=7.72e-4
Cluster 321	7	2q37 microdeletion syndrome, Albright hereditary osteodystrophy type 3, Ataxia telangiectasia, Chromosome 2q37 deletion syndrome, Del(2)(q37) and 2 more	positive regulation of protein-containing complex assembly GO · q=5.98e-6
Cluster 322	7	3p- syndrome (includes intellectual disability), Caveolinopathy, Chromosome 3p25 monosomy, Creatine phosphokinase elevation, Hyperckmia and 2 more	regulation of calcium ion transport GO · q=1.91e-5
Cluster 323	7	46xy sex reversal 3, Adrenal insufficiency, Autoimmunity, Disorder of sex development, Immunodeficiency 126, susceptibility to and 2 more	luteinization GO · q=6.45e-4
Cluster 324	7	46xy sex reversal 9, Congenital diaphragmatic hernia, Diaphragmatic hernia 5, x-linked, Diaphragmatic malformations, Osteoporosis with fractures and 2 more	metanephros development GO · q=1.40e-5
Cluster 325	7	Chagas cardiomyopathy, Cousin syndrome, Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature (cousin syndrome), Growth disorder, Neurodevelopmental disorder with language delay and seizures and 2 more	insulin-like growth factor receptor signaling pathway GO · q=2.75e-3
Cluster 326	7	Cardiomegaly, Corticosteroid-binding globulin deficiency, Fatty liver, Fatty liver, alcoholic, Fetal anomaly and 2 more	positive regulation of gene expression GO · q=4.92e-19
Cluster 327	7	Biliary cholangitis, Biliary cirrhosis, Inner ear disease, Liver cirrhosis, Liver disease and 2 more	immune response GO · q=7.02e-21
Cluster 328	7	Abnormal cortical gyration, Cortical occipital malformations, Developmental delay with language impairment and movement disorder, Intellectual developmental disorder autism speech, Intellectual developmental disorder speech autism dysmorphic and 2 more	general adaptation syndrome GO · q=7.47e-3
Cluster 329	7	Abnormality of brain morphology, Alagille syndrome, Follicular cyst, Hajdu-cheney syndrome, Pyogenic bacterial infections, recurrent and 2 more	ciliary body morphogenesis GO · q=7.78e-5
Cluster 330	7	Abnormality of the cerebellum, Abnormality of the foot, Epileptic encephalopathy, early infantile, 66, Generalized hypotonia, Hypoplasia of the corpus callosum and 2 more	synaptic vesicle endocytosis GO · q=4.96e-3
Cluster 331	7	Abnormality of the eye, Basilicata-akhtar syndrome, Central hypotonia, Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, Hypoventilation and 2 more	AMP biosynthetic process GO · q=1.75e-2
Cluster 332	7	Cystic fibrosis-related diabetes, Intestinal obstruction, Intestinal pseudo-obstruction, Patent ductus arteriosus, Speech disorder and 2 more	blood vessel diameter maintenance GO · q=8.12e-5
Cluster 333	7	Autoimmune disease, Autoimmune thyroid disease, Autoinflammation with pulmonary and cutaneous vasculitis, Celiac disease, Common variable immunodeficiency and 2 more	immune response GO · q=4.64e-33
Cluster 334	7	Antecubital pterygium syndrome, Genitourinary disease, Hengel maroofian schols syndrome, Malunion fracture, Neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy and 2 more	neuron recognition GO · q=3.07e-3
Cluster 335	7	Acne inversa, Acne inversa, familial, 3, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Early onset alzheimers disease with behavioral disturbance, Parkinson disease 8, autosomal dominant and 2 more	Noncanonical activation of NOTCH3 Pathway · q=1.49e-7
Cluster 336	7	Angioedema, Angioedema induced by ace inhibitors, Angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function, Congenital factor xii deficiency, Factor xii deficiency and 2 more	Complement and coagulation cascades Pathway · q=5.70e-7
Cluster 337	7	Acromegaloid facial appearance syndrome, Cantu syndrome, Dilated cardiomyopathy 1O, Hypertrichosis, Hypertrichotic osteochondrodysplasia Cantu type and 2 more	ATP sensitive Potassium channels Pathway · q=6.22e-7
Cluster 338	7	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Deafness, mitochondrial, modifier of, Episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia, Infantile liver failure, Infantile-onset recurrent acute liver failure and skeletal abnormalities and 2 more	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum GO · q=1.52e-3
Cluster 339	7	Alveolar soft part sarcoma, Clonal cytopenia of undetermined significance, Heyn-sproul-jackson syndrome, Kidney angiomyolipoma, Neoplasm with perivascular epithelioid cell differentiation and 2 more	regulation of cell cycle GO · q=5.29e-8
Cluster 340	7	Advanced sleep phase syndrome, Cobalamin metabolism disorder, Homocystinuria with megaloblastic anemia, Homocystinuria, cbld type, variant 1, Inborn disorder of cobalamin metabolism and transport and 2 more	cobalamin metabolic process GO · q=5.20e-7
Cluster 341	7	B-cell non-hodgkin lymphoma, Congenital disorder of glycosylation type II, Follicular lymphoma, Lymphoma, Marginal zone lymphoma and 2 more	Pathways in cancer Pathway · q=4.82e-24
Cluster 342	7	Alcoholic hepatitis, Angina pectoris, Autoimmune uveitis, Cachexia, Chondromalacia and 2 more	positive regulation of smooth muscle cell proliferation GO · q=2.24e-7
Cluster 343	7	Cutis laxa, autosomal dominant 1, Dermatitis herpetiformis, Extrinsic allergic alveolitis, Hiv-1, resistance to, Refractory anemia and 2 more	Herpes simplex virus 1 infection Pathway · q=2.20e-5
Cluster 344	7	Alpha thalassemia, Alpha thalassemia spectrum, Erythrocytosis, familial, 7, Heinz body anemias, alpha, Hemoglobin barts fetalis syndrome and 2 more	nitric oxide transport GO · q=1.86e-5
Cluster 345	7	Alpha-1 antitrypsin deficiency, Beriberi, Emphysema-cirrhosis, Gastro-entero-pancreatic neuroendocrine tumor, Immunodeficiency 63 with lymphoproliferation and autoimmunity and 2 more	Th1 and Th2 cell differentiation Pathway · q=1.30e-4
Cluster 346	7	Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, Neuromuscular disorder, congenital, with dysmorphic facies, Pena-shokeir syndrome and 2 more	Striated Muscle Contraction Pathway · q=3.20e-7
Cluster 347	7	Bethlem myopathy, Collagen 6-related myopathy, Collagen vi muscular dystrophy, Collagen vi-related myopathy, Dystonia 27 and 2 more	Collagen chain trimerization Pathway · q=6.17e-14
Cluster 348	7	Alport syndrome 3a, autosomal dominant, Alport syndrome 3b, autosomal recessive, Congenital hearing disorder, Deafness, autosomal dominant 76, Hematuria, benign familial and 2 more	sensory perception of sound GO · q=9.27e-4
Cluster 349	7	Alstrom syndrome, Epiphyseal dysplasia, Epiphyseal dysplasia, multiple, 3, with or without myopathy, Laryngeal hypoplasia, Marshall syndrome and 2 more	Collagen biosynthesis and modifying enzymes Pathway · q=3.81e-14
Cluster 350	7	Cutaneous mastocytosis, Glutamate formiminotransferase deficiency, Intellectual developmental disorder growth seizures, Isovaleric acidemia, Mastocytosis and 2 more	ERBB4 signaling pathway GO · q=3.07e-3
Cluster 351	7	Amenorrhea, Antley-bixler syndrome, Antley-bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia, Disordered steroidogenesis due to cytochrome p450 oxidoreductase and 2 more	Cortisol synthesis and secretion Pathway · q=8.14e-11
Cluster 352	7	Atrial and intestinal dysrhythmia, Chronobiology disorder, Hyperoxia, Patent ductus venosus, Pruritus and 2 more	Neuroactive ligand-receptor interaction Pathway · q=2.32e-6
Cluster 353	7	Arginine vasopressin deficiency, Arginine vasopressin resistance, Diabetes insipidus, Hereditary arginine vasopressin deficiency, Nephrogenic syndrome of inappropriate antidiuresis and 2 more	Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) Pathway · q=1.62e-5
Cluster 354	7	Ciliary dyskinesia, primary, 54, Frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia with motor neuron disease and 2 more	Amyotrophic lateral sclerosis Pathway · q=1.86e-10
Cluster 355	7	Cardiomyopathy, dilated, 2l, Dilated cardiomyopathy 1C, Distal axonal motor neuropathy-myofibrillar myopathy syndrome, Distal muscular dystrophy, Distal myopathy and 2 more	Cytoskeleton in muscle cells Pathway · q=6.94e-5
Cluster 356	7	Anemia, sideroblastic, 2, pyridoxine-refractory, Erythropoietic protoporphyria, Linear skin defects with multiple congenital anomalies 3, Pyridoxine refractory sideroblastic anemia 2, Sideroblastic anemia and 2 more	iron-sulfur cluster assembly GO · q=1.70e-6
Cluster 357	7	Cavernous malformations of cns, Cerebral cavernous malformation, Congenital cerebral aneurysm, Congenital malformation of cerebral vessels, Developmental venous anomaly and 2 more	endothelium development GO · q=3.56e-6
Cluster 358	7	Anorexia, Congestive ophthalmopathy, Graft-versus-host disease, Granulomatosis with polyangiitis, Graves ophthalmopathy and 2 more	immune response GO · q=6.20e-15
Cluster 359	7	Ap-4 deficiency syndrome, Cerebral palsy, Cerebral palsy, spastic quadriplegic 2, Cerebral palsy, spastic quadriplegic 3, Intellectual disability and spastic paraplegia and 2 more	Lysosome Vesicle Biogenesis Pathway · q=3.84e-4
Cluster 360	7	Anovulation, Dyslipidemias, Familial expansile osteolysis, Osteopetrosis, autosomal recessive 7, Paget disease and 2 more	Nuclear Receptor transcription pathway Pathway · q=7.18e-5
Cluster 361	7	Arts syndrome, Ataxia with deafness and vision loss, Myopathy, distal, 7, adult-onset, x-linked, Phosphoribosylpyrophosphate synthetase superactivity, PRPS1 deficiency disorder and 2 more	subthalamic nucleus development GO · q=5.91e-3
Cluster 362	7	Congenital neck anomaly, Deglutition disorder, Distal nebulin myopathy, Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome, Nemaline myopathy 2 and 2 more	tRNA-type intron splice site recognition and cleavage GO · q=5.73e-7
Cluster 363	7	Aortic arch syndrome, Autoimmune pulmonary alveolar proteinosis, Birdshot chorioretinopathy, Congenital pulmonary artery atresia, Heerfordt syndrome and 2 more	antigen processing and presentation of peptide antigen via MHC class I GO · q=1.90e-9
Cluster 364	7	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 2 more	aortic valve morphogenesis GO · q=4.35e-6
Cluster 365	7	Aphasia, Cardiac tamponade, Commisural aphasia, Dejerine-lichtheim phenomenon, Dysphasia and 2 more	olfactory cortex development GO · q=5.03e-3
Cluster 366	7	Deafness, autosomal dominant, 78, Delpire-mcneill syndrome, Intestinal malrotation, Kilquist syndrome, Lymphatic system disease and 2 more	establishment or maintenance of epithelial cell apical/basal polarity GO · q=2.10e-3
Cluster 367	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=7.21e-22
Cluster 368	7	Ciliary dyskinesia, primary, 41, Immunodeficiency, common variable, 12, Nasal disorder, Nasal polyp, Pharyngeal disorder and 2 more	Inflammatory bowel disease Pathway · q=3.23e-11
Cluster 369	7	Arthrogryposis, Escobar syndrome, Hypo-akinesia disorder of prenatal onset, Multiple pterygium syndrome, escobar variant, Multiple pterygium syndrome, lethal type and 2 more	skeletal muscle contraction GO · q=1.36e-9
Cluster 370	7	Bladder disease, Epilepsy with myoclonic atonic seizures, Epileptic encephalopathy, early infantile, 6 (dravet syndrome), Familial hemiplegic migraine, Febrile seizures, familial, 3a and 2 more	visual learning GO · q=3.57e-4
Cluster 371	7	Berardinelli-seip congenital lipodystrophy, Carotid intima-media thickness, Congenital generalized lipodystrophy, Epithelial ovarian carcinoma, Generalized lipodystrophy and 2 more	negative regulation of connective tissue replacement involved in inflammatory response wound healing GO · q=2.17e-4
Cluster 372	7	Asperger syndrome, Behavior disorders, Epileptic encephalopathy with global cerebral demyelination, Epileptic encephalopathy, early infantile, 39, Fatigue syndrome and 2 more	positive regulation of cell-matrix adhesion GO · q=8.01e-3
Cluster 373	7	Autoinflammatory syndrome, Congenital lactic acidosis, Hemophagocytic lymphohistiocytosis, Hemophagocytic lymphohistiocytosis, familial, 2, Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease and 2 more	pattern recognition receptor signaling pathway GO · q=3.25e-7
Cluster 374	7	Body mass index, Diastolic heart failure, Growth retardation, developmental delay, and facial dysmorphism, Growth retardation, developmental delay, coarse facies, and early death, Lethal polymalformative syndrome, boissel type and 2 more	adenylate cyclase-activating G protein-coupled receptor signaling pathway GO · q=8.19e-4
Cluster 375	7	Atrophoderma vermiculata, Burnett schwartz berberian syndrome, Common migraine, Keratosis follicularis spinulosa decalvans, Keratosis pilaris atrophicans and 2 more	positive regulation of lysosomal protein catabolic process GO · q=2.36e-4
Cluster 376	7	Auricle malformation, Diamond-blackfan anemia 6, Erythroid hypoplasia, Hypoplastic thumb, Ovarian agenesis and 2 more	metanephric S-shaped body morphogenesis GO · q=3.33e-4
Cluster 377	7	Autism, susceptibility to, x-linked 6 (includes intellectual disability), Autism, x-linked, Bulbar palsy, Central apnea, Chromosome xq28 duplication syndrome and 2 more	social behavior GO · q=3.93e-6
Cluster 378	7	Cervical clear cell adenocarcinoma, Developmental delay with immunodeficiency syndrome, Endocrine system disease, Growth retardation, Immunodeficiency, developmental delay, and hypohomocysteinemia and 2 more	Prostate cancer Pathway · q=5.12e-8
Cluster 379	7	Autoimmune lymphoproliferative disorder, Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A, Immunodeficiency 64, Lymphoproliferative syndrome and 2 more	FasL/ CD95L signaling Pathway · q=7.74e-9
Cluster 380	7	Greenberg dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Mesomelia, Pelger-huet anomaly, Regressive spondylometaphyseal dysplasia and 2 more	Regulation of MECP2 expression and activity Pathway · q=1.05e-2
Cluster 381	7	Congenital muscular dystrophy, Congenital muscular dystrophy due to dystroglycanopathy, Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a13 and 2 more	Mannose type O-glycan biosynthesis Pathway · q=2.48e-23
Cluster 382	7	Beta-ureidopropionase deficiency, Cryptogenic west syndrome, Epileptic encephalopathy, early infantile, 84, Infantile spasms, Medium chain acyl-coa dehydrogenase deficiency and 2 more	action potential GO · q=5.41e-6
Cluster 383	7	Brain small vessel disease, Cerebral small vessel disease, Congenital porencephaly, Intracerebral hemorrhage, Porencephaly 2 and 2 more	menaquinone catabolic process GO · q=8.69e-4
Cluster 384	7	Birk-barel syndrome, Cataract 50 with or without glaucoma, Cataract-glaucoma syndrome, Mulibrey nanism, Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures and 2 more	regulation of interleukin-1 production GO · q=1.37e-2
Cluster 385	7	Congenital sensory neuropathy, Congenital sensory neuropathy with selective loss of small myelinated fibers, Cyp2d6 deficiency, Periapical periodontitis, Prolidase deficiency and 2 more	nerve growth factor signaling pathway GO · q=2.34e-5
Cluster 386	7	Cerebellar diseases, Intellectual developmental disorder microcephaly cerebellar, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, Mental retardation, with or without nystagmus, Mowat-wilson syndrome and 2 more	hindbrain development GO · q=1.18e-3
Cluster 387	7	Brain aneurysm, Dyslexia, Holocarboxylase synthetase deficiency, Male infertility acephalic spermatozoa, Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development and 2 more	vocal learning GO · q=1.39e-6
Cluster 388	7	Breast ductal adenoma, Breast fibrosis, Fanconi anemia complementation group D2, Intraductal breast papilloma, Overgrowth syndrome and 2 more	Endocrine resistance Pathway · q=7.35e-14
Cluster 389	7	Camptocormia, Chronic progressive external ophthalmoplegia, Mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy), Progressive external ophthalmoplegia with mitochondrial dna deletions (autosomal dominant), Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 and 2 more	mitochondrial DNA replication GO · q=2.03e-4
Cluster 390	7	Ciliary dyskinesia, primary, 44, Deafness, autosomal dominant 73, Deafness, autosomal recessive 84a, Hoarding disorder, Pericarditis and 2 more	Transcriptional regulation of granulopoiesis Pathway · q=9.08e-3
Cluster 391	7	Fraser syndrome, Intellectual developmental disorder with cardiac arrhythmia, Language delay and adhd/cognitive impairment with or without cardiac arrhythmia, Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia, Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia and 2 more	pyruvate import into mitochondria GO · q=2.09e-4
Cluster 392	7	Cervical dystonia, Developmental delay, leukoencephalopathy, and neurologic decompensation, Dystonia 1, torsion, autosomal dominant, Dystonic disorder, Early-onset generalized limb-onset dystonia and 2 more	Inhibition of PKR Pathway · q=6.97e-3
Cluster 393	7	Chloracne, Heinz body anemias, Hemoglobin m disease, Methemoglobinemia, Rapid progression to aids from hiv1 infection and 2 more	carbon dioxide transport GO · q=8.18e-9
Cluster 394	7	Cholestasis, neonatal intrahepatic, caused by citrin deficiency, Citrin deficiency, Citrullinemia, Citrullinemia type 2, adult onset, Citrullinemia type 2, neonatal onset and 2 more	Urea cycle Pathway · q=6.38e-5
Cluster 395	7	Corneal ulcer, Eye disease, Hyperopia, Neurodevelopmental disorder with microcephaly and structural brain anomalies, Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome and 2 more	positive regulation of neuron differentiation GO · q=6.19e-4
Cluster 396	7	Chronic infantile diarrhea due to guanylate cyclase 2c overactivity, Congenital chloride diarrhea, Congenital secretory diarrhea, Congenital sodium diarrhea, Duodenal atresia and 2 more	Mineral absorption Pathway · q=6.42e-3
Cluster 397	7	Complex hereditary spastic paraplegia, Neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia, Spastic paraplegia 26, autosomal recessive, Spastic paraplegia 45, autosomal recessive, Spastic paraplegia 46, autosomal recessive and 2 more	Glycosphingolipid metabolism Pathway · q=5.16e-3
Cluster 398	7	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, Congenital hypoplasia of kidney, Focal segmental glomerulosclerosis 7, Nephrotic syndrome, focal segmental type, Papillorenal syndrome and 2 more	branching involved in ureteric bud morphogenesis GO · q=3.11e-6
Cluster 399	7	Congenital lymphatic dysplasia with hydrops and/or lymphedema, Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Hereditary xerocytosis and 2 more	monoatomic ion transport GO · q=1.61e-3
Cluster 400	7	Deafness, autosomal recessive 100, Deafness, autosomal recessive 107, Deafness, autosomal recessive 28, Epileptic encephalopathy, early infantile, 81, Hearing loss, autosomal recessive and 2 more	detection of mechanical stimulus involved in sensory perception of sound GO · q=1.01e-3
Cluster 401	7	Donohue syndrome, Insulin resistant diabetes mellitus, Insulin-resistant diabetes mellitus with acanthosis nigricans, Leprechaunism, Rabson-mendenhall syndrome and 2 more	mitotic spindle organization GO · q=4.75e-3
Cluster 402	7	Dysmorphic facial features, Intellectual developmental disorder, autosomal dominant 70, Luscan-lumish syndrome, Microcephaly-severe intellectual disability-multiple congenital anomalies syndrome, Neurodevelopmental disorder without or with macrocephaly/overgrowth and 2 more	regulation of protein localization to chromatin GO · q=4.09e-3
Cluster 403	7	Hermansky-pudlak syndrome, Hermansky-pudlak syndrome 11, Hermansky-pudlak syndrome 2, Hermansky-pudlak syndrome 5, Hermansky-pudlak syndrome 6 and 2 more	platelet dense granule organization GO · q=4.91e-22
Cluster 404	7	Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and progressive sensorineural deafness, May-hegglin anomaly and 2 more	organic acid metabolic process GO · q=2.15e-4
Cluster 405	6	Beckwith-wiedemann syndrome, Hemihyperplasia, Pregnancy disorder, Silver-russell syndrome, Silver-russell syndrome 3 and 1 more	insulin-like growth factor receptor signaling pathway GO · q=1.02e-5
Cluster 406	6	15q13.3 microdeletion syndrome, Auditory perceptual disorder, Congenital exomphalos, Congenital omphalocele, Craniofacial anomalies with anterior segment dysgenesis and 1 more	regulation of membrane repolarization during atrial cardiac muscle cell action potential GO · q=8.81e-3
Cluster 407	6	Adult myoclonic epilepsy, Benign adult familial myoclonic epilepsy, Benign myoclonic epilepsy, Epileptic encephalopathy, early infantile, 78, Familial adult myoclonic epilepsy and 1 more	monoatomic ion transmembrane transport GO · q=1.50e-6
Cluster 408	6	19p13.3 microduplication syndrome, Bainbridge-ropers syndrome, Malan syndrome, Marshall-smith syndrome, Sotos syndrome and 1 more	GPVI-mediated activation cascade Pathway · q=3.06e-3
Cluster 409	6	1p21.3 microdeletion syndrome, Anal polyp, Dihydropyrimidinase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine metabolism disorder and 1 more	uracil catabolic process GO · q=1.76e-5
Cluster 410	6	Chromosome 2p16.3 deletion syndrome, Cortical dysplasia-focal epilepsy syndrome, Internet addiction disorder, Language development disorders, Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities and 1 more	adult behavior GO · q=1.69e-7
Cluster 411	6	1p31p32 microdeletion syndrome, Brain malformations, Brain malformations with or without urinary tract defects, Chromosome 1p32-p31 deletion syndrome, Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima and 1 more	positive regulation of neuron migration GO · q=5.44e-3
Cluster 412	6	Bronchus cancer, Choriocarcinoma of ovary, Coumarin resistance, Fanconi anemia complementation group D1, Radio-tartaglia syndrome and 1 more	establishment of protein localization to telomere GO · q=2.15e-4
Cluster 413	6	Congenital disorder of glycosylation, type iit, Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, Hyperlipidemia, Hypertriglyceridemia, Infantile hypertriglyceridemia with hepatosteatosis and 1 more	Cholesterol metabolism Pathway · q=2.00e-18
Cluster 414	6	3mc syndrome, 3mc syndrome 1, Carnevale syndrome, Craniofacial ulnar renal syndrome, Malpuech facial clefting syndrome and 1 more	Lectin pathway of complement activation Pathway · q=7.06e-7
Cluster 415	6	Gastric tubular adenocarcinoma, Hidradenocarcinoma, Intellectual developmental disorder dysmorphic microcephaly, Intellectual developmental disorder growth microcephaly, Intellectual developmental disorder, autosomal dominant 21 and 1 more	Pathways in cancer Pathway · q=8.53e-6
Cluster 416	6	Abeta amyloidosis, Amyloid angiopathy, Amyloid neuropathy, Cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants, Eye manifestations and 1 more	astrocyte activation involved in immune response GO · q=1.21e-5
Cluster 417	6	Arteriosclerosis, Corneal injury, Hypercholesterolemia, Hypercholesterolemia, familial, 4, Hyperlipoproteinemia and 1 more	cholesterol homeostasis GO · q=9.97e-29
Cluster 418	6	Ablepharon macrostomia syndrome, Barber-say syndrome, Congenital ectodermal dysplasia of face, Focal facial dermal dysplasia, Focal facial dermal dysplasia 3, setleis type (can include intellectual disability and developmental delay) and 1 more	Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Pathway · q=3.58e-3
Cluster 419	6	Abnormal brain imaging, Axonal neuropathy, Hypotonia, Intellectual developmental disorder speech peripheral neuropathy, Kyphosis and 1 more	ubiquitin-dependent protein catabolic process via the C-end degron rule pathway GO · q=8.69e-4
Cluster 420	6	Congenital anomalies of the kidney and urinary tract, Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, Neurodevelopmental disorder with or without urinary tract abnormalities, Renal agenesis, Renal dysplasia, cystic, susceptibility to and 1 more	kidney development GO · q=8.60e-19
Cluster 421	6	Abnormal muscle tone, Beukes hip dysplasia, Developmental delay and epilepsy, Lack of speech, Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures and 1 more	spermidine metabolic process GO · q=5.03e-3
Cluster 422	6	Abnormality of the face, Behavioral abnormality, Morphological abnormality of the central nervous system, Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, Oral cleft and 1 more	regulation of hematopoietic stem cell differentiation GO · q=1.97e-3
Cluster 423	6	Hepatic veno occlusive disease with immunodeficiency, Immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive, Lymphocytic b-cell leukemia, Lymphocytic leukemia, Lymphoid leukemia and 1 more	apoptotic process GO · q=4.43e-8
Cluster 424	6	Abnormality of the ear, Abnormality of the genitourinary system, Abnormality of the vertebrae, Abnormality of vision, Iris coloboma and 1 more	positive regulation of transcription elongation by RNA polymerase II GO · q=2.70e-3
Cluster 425	6	Aplasia cutis congenita, Epidermolysa bullosa simplex and limb girdle muscular dystrophy, Epidermolysis bullosa simplex 5c, with pyloric atresia, Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive, Muscular dystrophy-epidermolysis bullosa simplex spectrum disorder and 1 more	Type I hemidesmosome assembly Pathway · q=3.96e-15
Cluster 426	6	Acinar prostate adenocarcinoma, foamy gland variant, Acinar prostate mucinous adenocarcinoma, Benign prostatic hyperplasia, Cervical polyp, Megabladder, congenital and 1 more	positive regulation of transcription by RNA polymerase II GO · q=5.42e-9
Cluster 427	6	Acoustic neuroma, Cellular schwannoma, Loss of heterozygosity neurofibromatosis, type 2, Lymphoplasmacyte-rich meningioma, Meningioma, nf2-related, somatic and 1 more	regulation of gliogenesis GO · q=3.05e-3
Cluster 428	6	Burn-mckeown syndrome, Choanal atresia syndrome, Cystic hygroma, Hypoplastic cerebellum, Mandibulofacial dysostosis, Cincinnati type and 1 more	roof of mouth development GO · q=7.57e-3
Cluster 429	6	Activated pi3k-delta syndrome, Combined immunodeficiency with facio-oculo-skeletal anomalies, Immunodeficiency 14, Immunodeficiency 14a, autosomal dominant, Immunodeficiency 14b, autosomal recessive and 1 more	Synthesis of PIPs at the plasma membrane Pathway · q=5.05e-5
Cluster 430	6	Acute hepatic porphyria, Hepatoerythropoietic porphyria, Lead poisoning, susceptibility to, Porphyria, Porphyria cutanea tarda and 1 more	heme B biosynthetic process GO · q=3.34e-25
Cluster 431	6	Acute lymphoblastic leukemia, Dna ligase iv deficiency, Dubowitz syndrome, Lig4 syndrome, Severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive with sensitivity to ionizing radiation and 1 more	Non-homologous end-joining Pathway · q=1.19e-6
Cluster 432	6	Adenosine deaminase 2 deficiency, Developmental disorder with delayed myelination and seizures, Polyarteritis nodosa, Sneddon syndrome, Vasculitis and 1 more	negative regulation of myeloid cell differentiation GO · q=2.06e-4
Cluster 433	6	Adenosine kinase deficiency, Glycine n-methyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, S-adenosylhomocysteine hydrolase deficiency and 1 more	one-carbon metabolic process GO · q=8.77e-7
Cluster 434	6	Adrenal adenoma, Adrenal cortex neoplasm, Aldosterone-producing adenoma, Andersen-tawil syndrome, Familial hyperaldosteronism type III and 1 more	Aldosterone synthesis and secretion Pathway · q=1.96e-8
Cluster 435	6	Adrenoleukodystrophy, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Peroxisome biogenesis disorder, Refsum disease and 1 more	peroxisome organization GO · q=6.97e-32
Cluster 436	6	Contiguous abcd1-dxs1375e deletion syndrome, Deafness, dystonia, and central hypomyelination with disorganization of the golgi apparatus, Deafness, dystonia, and cerebral hypomyelination, Encephalitis, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome and 1 more	Defective ABCD1 causes adrenoleukodystrophy (ALD) Pathway · q=4.49e-3
Cluster 437	6	Agammaglobulinemia and isolated hormone deficiency, Borderline ovarian serous tumor, Bruton type agammaglobulinemia, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency and 1 more	Endometrial cancer Pathway · q=1.77e-13
Cluster 438	6	Cerebral creatine deficiency syndrome, Creatine deficiency, Creatine transporter deficiency, Gamt deficiency, Guanidinoacetate methyltransferase deficiency and 1 more	creatine metabolic process GO · q=1.44e-9
Cluster 439	6	Agnathia-holoprosencephaly-situs inversus syndrome, Butterfly-shaped pigmentary macular dystrophy, Ectopic posterior pituitary, Microphthalmia, syndromic 5, Patterned macular dystrophy and 1 more	response to low light intensity stimulus GO · q=5.91e-3
Cluster 440	6	Aica-ribosiduria, Bladder inflammatory myofibroblastic tumor, Inflammatory myofibroblastic tumor, Liver inflammatory myofibroblastic tumor, Microcephaly, developmental delay, and brittle hair and nails and 1 more	Longevity regulating pathway Pathway · q=5.03e-7
Cluster 441	6	Aicardi goutieres syndrome, Deoxyguanosine kinase deficiency, Interferonopathy, Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4, RNU7-1-related type 1 interferonopathy and 1 more	mismatch repair GO · q=3.55e-7
Cluster 442	6	Aicardi-goutieres syndrome associated with a type i interferon signature, Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, Dyschromatosis, Dyschromatosis symmetrica hereditaria, Dyschromatosis universalis hereditaria 1 and 1 more	cellular detoxification of cadmium ion GO · q=1.60e-4
Cluster 443	6	Albinism, Early-onset severe hermansky-pudlak syndrome with hearing loss, Hermansky-pudlak syndrome 10, Nystagmus 6, congenital, x-linked, Ocular albinism with sensorineural deafness and 1 more	melanosome organization GO · q=1.41e-6
Cluster 444	6	Alkuraya-kucinskas syndrome, Brain atrophy, dandy walker and contractures, Congenital hemivertebra, Ficus syndrome, Micrognathism and 1 more	cartilage development GO · q=1.53e-4
Cluster 445	6	Brachytelephalangic chondrodysplasia punctata, Chondrodysplasia, Chondrodysplasia with joint dislocations, gpapp type, Mend syndrome, X-linked chondrodysplasia punctata and 1 more	ether lipid biosynthetic process GO · q=4.89e-6
Cluster 446	6	Hypotrichosis, Hypotrichosis 6, Hypotrichosis simplex, Woolly hair, Woolly hair autosomal recessive 2 and 1 more	Formation of the cornified envelope Pathway · q=6.38e-5
Cluster 447	6	Alport syndrome with mental retardation midface hypoplasia and elliptocytosis, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, Amme complex, Fraxe intellectual disability, Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome and 1 more	negative regulation of prostaglandin secretion GO · q=8.81e-3
Cluster 448	6	Alternating hemiplegia of childhood, Capos syndrome, Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss, Congenital epicanthus, Neurological disorder and 1 more	potassium ion transport GO · q=2.03e-5
Cluster 449	6	Amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia, Myelofibrosis with myeloid metaplasia, Thrombocythemia, Thrombocythemia with distal limb defects and 1 more	thrombopoietin-mediated signaling pathway GO · q=5.44e-11
Cluster 450	6	Amelogenesis imperfecta, Dentin dysplasia, Dentin dysplasia with microdontia and misshapen teeth, Dentinogenesis imperfecta, Enamel-renal syndrome and 1 more	biomineral tissue development GO · q=8.45e-17
Cluster 451	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	Complex I biogenesis Pathway · q=1.02e-4
Cluster 452	6	Epilepsy and intellectual disability, Fetal growth restriction, Intellectual developmental disorder, autosomal dominant 56, Mental retardation, autosomal dominant 56, Ovarian steroid cell tumor and 1 more	Defective DHDDS causes retinitis pigmentosa 59 Pathway · q=1.62e-5
Cluster 453	6	Corneal astigmatism, Diaphanospondylodysostosis, Glaucoma, Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, Obsolete glaucoma 1, open angle, F and 1 more	positive regulation of transcription by RNA polymerase II GO · q=3.68e-8
Cluster 454	6	Autoimmune pancreatitis, Autosomal recessive osteopetrosis 3, Carbonic anhydrase deficiency, Cholangitis, Hyperammonemic encephalopathy and 1 more	positive regulation of hormone biosynthetic process GO · q=1.45e-4
Cluster 455	6	Delta zero thalassemia, Delta-beta thalassemia, thalassemia due to hb lepore, Delta-thalassemia, Hemoglobin e disease, Hemoglobin lepore beta thalassemia and 1 more	carbon dioxide transport GO · q=2.69e-4
Cluster 456	6	Angiofollicular ganglionic hyperplasia, Angiolymphoid hyperplasia, Castleman disease, Congenital microtia, Headache and 1 more	response to glucocorticoid GO · q=2.78e-4
Cluster 457	6	Antisocial behavior, Antisocial personality disorder, Brunner syndrome, Dysthymic disorder, Monoamine oxidase a deficiency and 1 more	cellular response to alkaloid GO · q=2.40e-4
Cluster 458	6	Anhidrotic ectodermal dysplasia, Christ-siemens-touraine syndrome, Craniofrontonasal dysplasia, Neurodevelopmental disorders, X-linked hypohidrotic ectodermal dysplasia and 1 more	TNFs bind their physiological receptors Pathway · q=1.47e-7
Cluster 459	6	Autosomal dominant polycystic kidney disease, Gillessen-kaesbach-nishimura syndrome, Polycystic kidney disease, Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic liver disease and 1 more	kidney development GO · q=1.27e-12
Cluster 460	6	Autosomal recessive polycystic kidney disease, Congenital hypoplasia of aortic arch, Cystathionine beta-synthase deficiency, Periportal fibrosis, Tooth disease and 1 more	animal organ morphogenesis GO · q=7.97e-4
Cluster 461	6	Anterior polar cataract, Cataract 33, multiple types, Cataract 39, multiple types, Cataract 9, multiple types, Cataract, autosomal recessive congenital 1 and 1 more	lens development in camera-type eye GO · q=2.49e-10
Cluster 462	6	Antibody deficiency, Combined immunodeficiency with recurrent sinopulmonary infections and recalcitrant warts, Immunodeficiency, common variable, 3, Immunodeficiency, common variable, 4, Immunodeficiency, common variable, 6 and 1 more	Primary immunodeficiency Pathway · q=1.27e-5
Cluster 463	6	Aortic rupture, Au-kline syndrome, Menkes disease, Neuronopathy, distal hereditary motor, x-linked, Occipital horn syndrome and 1 more	Degradation of the extracellular matrix Pathway · q=1.82e-4
Cluster 464	6	Cardiomyopathy, dilated, 2k, Juvenile arthritis, Juvenile idiopathic arthritis, Oligoarticular juvenile idiopathic arthritis, Polyarticular juvenile idiopathic arthritis and 1 more	Th17 cell differentiation Pathway · q=6.43e-12
Cluster 465	6	Apnea, Butyrylcholinesterase deficiency, Paralysis, Paresis, Periodic fever, menstrual cycle-dependent and 1 more	serotonin metabolic process GO · q=1.09e-3
Cluster 466	6	Deafness, autosomal dominant 1, Deafness, autosomal dominant 1, with or without thrombocytopenia, Hearing loss, autosomal recessive 116, Pendred syndrome, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome and 1 more	sensory perception of sound GO · q=2.00e-5
Cluster 467	6	Arylsulfatase a deficiency, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type vi (maroteaux-lamy), Mucopolysaccharidosis vi (mps6), Multiple sulfatase deficiency and 1 more	The activation of arylsulfatases Pathway · q=1.02e-4
Cluster 468	6	Ascending aortic dilation, Congenital finger flexion contractures, Congenital musculoskeletal anomalies, Failure to thrive in infancy, Generalized joint laxity and 1 more	cardiac muscle cell proliferation GO · q=3.87e-8
Cluster 469	6	Ataxia and seizures, Ataxia, spastic, autosomal recessive, Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome, Optic atrophy and/or spastic ataxia spectrum, Spastic ataxia optic atrophy dysarthria syndrome and 1 more	membrane docking GO · q=7.47e-3
Cluster 470	6	Decreased nerve conduction velocities, Distal sensory loss, Hereditary ataxia, Hyporeflexia, Neurodegeneration, childhood-onset, with cerebellar atrophy and 1 more	adult walking behavior GO · q=3.77e-3
Cluster 471	6	Graves disease, Hashimoto disease, Hyperthyroidism, Okt4 epitope deficiency, Thyroid disease and 1 more	Autoimmune thyroid disease Pathway · q=4.09e-23
Cluster 472	6	Autoinflammation, lipodystrophy, and dermatosis syndrome, Candle syndrome, Immunodeficiency 121 with autoinflammation, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Nakajo syndrome and 1 more	Proteasome Pathway · q=3.59e-12
Cluster 473	6	Cholesteatoma, Intellectual developmental disorder, autosomal dominant 41, Intellectual disability with autism spectrum disorder, Mental retardation, autosomal dominant 41, Pierpont syndrome and 1 more	regulation of cell population proliferation GO · q=2.57e-5
Cluster 474	6	Dysautonomia, Hsan 1, Neuropathy, hereditary sensory and autonomic, type 1A, Neuropathy, hereditary sensory and autonomic, type 1C, Riley-day syndrome and 1 more	sphinganine biosynthetic process GO · q=1.04e-5
Cluster 475	6	Autosomal dominant hypophosphatasia, Autosomal recessive hypophosphatasia, Childhood hypophosphatasia, Hypophosphatasia, Micromelia and 1 more	response to lipopolysaccharide GO · q=2.32e-3
Cluster 476	6	Autosomal recessive nonsyndromic deafness 97, Deafness, autosomal recessive 97, Dysplasia of larynx, Malignant bladder paraganglioma, Mixed cell type cancer and 1 more	Non-small cell lung cancer Pathway · q=1.13e-6
Cluster 477	6	Cerebral sinovenous thrombosis, Congenital factor ii deficiency, Congenital prothrombin deficiency, Hemophilia b, Pregnancy loss, recurrent, 2 and 1 more	hemostasis GO · q=1.99e-8
Cluster 478	6	Baker-gordon syndrome, Dental enamel hypoplasia, Intellectual disability and central nervous system anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Pycnodysostosis and 1 more	pulmonary valve morphogenesis GO · q=3.00e-3
Cluster 479	6	Cryptogenic multifocal ulcerous stenosing enteritis, Curling ulcer, Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder, Gastrointestinal ulceration, recurrent, with dysfunctional platelets, Neurodevelopmental disorder with seizures and 1 more	response to xenobiotic stimulus GO · q=6.09e-5
Cluster 480	6	Benign hypercalcemia, Familial isolated hyperparathyroidism, Hypocalcemia, autosomal dominant 1, Hypocalcemia, autosomal dominant, (with bartter syndrome), Hypocalciuric hypercalcemia and 1 more	positive regulation of insulin secretion GO · q=2.00e-3
Cluster 481	6	Congenital cerebral hernia, Dandy-walker syndrome, Joubert syndrome 21, Joubert syndrome 30, Joubert syndrome with jeune asphyxiating thoracic dystrophy and 1 more	cell migration involved in coronary angiogenesis GO · q=1.50e-2
Cluster 482	6	Intrauterine growth restriction, Mitochondrial complex v (atp synthase) deficiency, nuclear type, Mitochondrial complex v (atp synthase) deficiency, nuclear type 1, Mitochondrial complex v (atp synthase) deficiency, nuclear type 2, Mitochondrial encephalocardiomyopathy and 1 more	mitochondrial proton-transporting ATP synthase complex assembly GO · q=1.18e-4
Cluster 483	6	Cyanosis, Cyanosis transient neonatal, Delta-beta thalassemia, Fetal hemoglobin quantitative trait locus 1, Hemoglobin f disease and 1 more	carbon dioxide transport GO · q=1.86e-9
Cluster 484	6	Benign fasciculation-cramp syndrome, Bronchial hyperreactivity, Charcot-Marie-Tooth disease axonal type 2F, Cramp-fasciculation syndrome, Genetic peripheral neuropathy and 1 more	antimicrobial humoral immune response mediated by antimicrobial peptide GO · q=1.93e-7
Cluster 485	6	Bernard-soulier syndrome, Hereditary von Willebrand disease, Spinocerebellar ataxia, autosomal recessive 26, Stomatitis, Von willebrand disease, type 3 and 1 more	Platelet Aggregation (Plug Formation) Pathway · q=1.11e-8
Cluster 486	6	Beta-hexosaminidase a deficiency, Gm2 gangliosidosis, Gm2-gangliosidosis, several forms, tay-sachs disease, Hex a pseudodeficiency, Hexosaminidase activator deficiency and 1 more	ganglioside catabolic process GO · q=5.39e-8
Cluster 487	6	Blue cone monochromatism, Colorblindness, partial, protan series, Cone monochromatism, Red color blindness, Tritan color blindness and 1 more	absorption of visible light GO · q=6.16e-9
Cluster 488	6	Central nervous system disease, Choroidal neovascularization, Diabetes microvascular complications, Erythrocytosis, familial, 5, Esophageal stenosis and 1 more	vasodilation GO · q=8.00e-5
Cluster 489	6	Borderline personality disorder, Cleft lip/palate with abnormal thumbs and microcephaly, Immunodeficiency 109 with lymphoproliferation, Juberg-hayward syndrome, Kidney neoplasms and 1 more	Negative feedback regulation of MAPK pathway Pathway · q=1.23e-7
Cluster 490	6	Bundle branch block, Expressive language delay, Intellectual developmental disorder expressive speech dysmorphic, Intellectual developmental disorder speech dysmorphic, Intellectual developmental disorder, autosomal dominant 29 and 1 more	positive regulation of myoblast differentiation GO · q=6.03e-3
Cluster 491	6	Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome, Bresek syndrome, Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia, Ifap syndrome 1, with or without bresheck syndrome, Keratosis follicularis spinulosa decalvans, x-linked and 1 more	bone maturation GO · q=6.71e-3
Cluster 492	6	Deafness, autosomal recessive 39, Familial telangiectasia cancer syndrome, Ovarian angiosarcoma, Spinocerebellar ataxia, autosomal recessive 12, Urinary tract carcinoma and 1 more	Non-small cell lung cancer Pathway · q=4.35e-5
Cluster 493	6	Brown tendon sheath syndrome, Dystonia 4, hypomyelinating leukodystrophy 6, Dystonia 4, torsion, autosomal dominant, Hypomyelination with atrophy of the basal ganglia and cerebellum, Neurologic disorder and 1 more	rhombomere 6 development GO · q=4.09e-3
Cluster 494	6	Congenital palmoplantar and perioral keratoderma of olmsted, Erythrokeratodermia variabilis et progressiva 7, Olmsted syndrome, Palmoplantar keratoderma, nonepidermolytic, focal, Palmoplantar keratoderma, nonepidermolytic, focal 2 and 1 more	negative regulation of hair cycle GO · q=5.91e-3
Cluster 495	6	Caffey syndrome, type 1, Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-caffey syndrome and 1 more	muscle atrophy GO · q=6.71e-3
Cluster 496	6	Candidiasis, familial, 2, Candidiasis, familial, 9, Chronic mucocutaneous candidiasis, Deep dermatophytosis, Immunodeficiency 103, susceptibility to fungal infections and 1 more	positive regulation of T-helper 17 type immune response GO · q=1.78e-4
Cluster 497	6	Capillary infantile hemangioma, Congenital heart defects, multiple types, 7, Fetal hydrops, Lymphatic malformation 1, Lymphedema, hereditary, ia and 1 more	lymph vessel development GO · q=3.67e-8
Cluster 498	6	Congenital heart defects, multiple types, 1, x-linked, Congenital heart disease with heterotaxy syndrome, Dextrocardia, Gut malrotation, Heterotaxy, visceral, 1, x-linked and 1 more	determination of left/right symmetry GO · q=2.78e-4
Cluster 499	6	Cataract 46, juvenile-onset, Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy, Congenital hypoplasia of clavicle, Early progeroid syndrome, Microstomia and 1 more	heart formation GO · q=5.91e-3
Cluster 500	6	Catel-manzke syndrome, Congenital nad deficiency disorder, Congenital vertebral-cardiac-renal anomalies syndrome, Hydroxykynureninuria, Nad deficiency disorder and 1 more	'de novo' NAD+ biosynthetic process from L-tryptophan GO · q=1.72e-7
Cluster 501	6	Caudal regression syndrome, Currarino syndrome, Neural tube defects, susceptibility to, Sacral defect, Skeletal ciliopathy and 1 more	establishment of planar polarity GO · q=8.11e-9
Cluster 502	6	CBL-related disorder, Cerebral arterial disease, Cerebral artery occlusion, Early onset vitamin b6 dependent epilepsy, Juvenile myelomonocytic leukemia and 1 more	vitamin B6 metabolic process GO · q=6.71e-3
Cluster 503	6	Cda iii, Congenital dyserythropoietic anemia, Glutaric aciduria 1, Glutaricacidemia, Glutaryl-CoA dehydrogenase deficiency and 1 more	erythrocyte differentiation GO · q=3.62e-4
Cluster 504	6	Disseminated superficial actinic porokeratosis, Porokeratosis, Porokeratosis 1, multiple types, Porokeratosis 7, multiple types, Porokeratosis 9, multiple types and 1 more	isopentenyl diphosphate biosynthetic process, mevalonate pathway GO · q=1.57e-8
Cluster 505	6	Cerebellar abnormalities, Combined pituitary hormone deficiency, Congenital hypopituitarism, Growth hormone deficiency with pituitary anomalies, Pituitary hormone deficiency and 1 more	pituitary gland development GO · q=3.31e-10
Cluster 506	6	Central vertigo, Deafness, autosomal recessive 36, Deafness, autosomal recessive 84b, Maleylacetoacetate isomerase deficiency, Peripheral vertigo and 1 more	regulation of sodium ion transport GO · q=2.65e-3
Cluster 507	6	Cerebro-oculo-facio-skeletal syndrome type 1, Cerebrooculofacioskeletal syndrome, Cockayne syndrome, De sanctis-cacchione syndrome, Hepatorenal syndrome and 1 more	Nucleotide excision repair Pathway · q=6.55e-15
Cluster 508	6	Charcot-Marie-Tooth disease axonal type 2N, Developmental and epileptic encephalopathy, 29, Early-onset epileptic encephalopathy with persistent myelination defect, Leukoencephalopathy, Leukoencephalopathy, hereditary diffuse, with spheroids 2 and 1 more	regulation of cytoplasmic translational fidelity GO · q=6.71e-3
Cluster 509	6	Childhood-onset sensorineural hearing impairment, Hydrops with lactic acidosis and sideroblastic anemia, Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, Perrault syndrome, Perrault syndrome 2 and 1 more	mitochondrial translation GO · q=4.95e-5
Cluster 510	6	Chopra-amiel-gordon syndrome, Intellectual developmental disorder dysmorphic ptosis, Neurodevelopmental disorder with or without cataracts and movement disorder, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Syndromic complex neurodevelopmental disorder and 1 more	regulation of DNA-templated transcription GO · q=3.05e-3
Cluster 511	6	Choreoathetosis, Cognitive impairment with or without cerebellar ataxia, Focal onset epileptic seizure, Myoclonus, familial, 2, Paroxysmal kinesigenic dyskinesias and 1 more	locomotory behavior GO · q=9.66e-4
Cluster 512	6	Chronic pain, Erythermalgia, primary, Hereditary sensory and autonomic neuropathy type 2d, Indifference to pain, congenital, autosomal recessive, Primary erythromelalgia and 1 more	action potential propagation GO · q=1.82e-3
Cluster 513	6	Macrothrombocytopenia, isolated, Quadriceps sparing myopathy, Sialuria, Stormorken syndrome, Thrombocytopenia 12 with or without myopathy and 1 more	regulation of store-operated calcium entry GO · q=4.18e-4
Cluster 514	6	Congenital aortic valve atresia, Congenital mitral valve atresia, Intellectual developmental disorder language autism, Intellectual developmental disorder seizures hypotonia skeletal, Intellectual developmental disorder with language impairment and with or without autistic features and 1 more	regulation of macrophage colony-stimulating factor production GO · q=3.05e-3
Cluster 515	6	Fontaine progeroid syndrome, Hypertrichosis, progeroid appearance, and mitochondrial dysfunction (gorlin-chaudhry-moss syndrome ), Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Progressive external ophthalmoplegia with mitochondrial dna deletions 3, Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2 and 1 more	mitochondrial ATP transmembrane transport GO · q=1.76e-5
Cluster 516	6	Congenital cystic kidney disease, Joubert syndrome 20 (includes developmental delay), Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Meckel syndrome 12, Meckel syndrome 14 and 1 more	neuroepithelial cell differentiation GO · q=1.57e-4
Cluster 517	6	Congenital mirror movements, Fanconi anemia, complementation group r, Gaze palsy, familial horizontal, with progressive scoliosis 1, Horizontal gaze palsy with progressive scoliosis, Mirror movements and 1 more	anterior/posterior axon guidance GO · q=5.09e-5
Cluster 518	6	Corneal opacity, Gm1 gangliosidosis, Mucopolysaccharidosis type 4B, Mucopolysaccharidosis type ivb (morquio), Proximal renal tubular acidosis and 1 more	MPS IV - Morquio syndrome B Pathway · q=5.36e-3
Cluster 519	6	Hemimegalencephaly, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 and 1 more	Cellular senescence Pathway · q=3.01e-10
Cluster 520	6	Cutis marmorata, Evans syndrome, Immune deficiency, autoimmune disease and intellectual disability, Immunodeficiency 78 with autoimmunity and developmental delay, Tpp2 deficiency and 1 more	response to thyroxine GO · q=6.71e-3
Cluster 521	6	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Deafness, autosomal recessive, 4, Goitre, Mondini defect, Sensorineural deafness and 1 more	Thyroid hormone synthesis Pathway · q=7.64e-5
Cluster 522	6	East syndrome, Enlarged vestibular aqueduct, Littles disease, Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance, Seizures, tonic-clonic, photosensitive and 1 more	synaptic vesicle maturation GO · q=3.29e-4
Cluster 523	6	Early-onset hypertension with severe exacerbation in pregnancy, Pseudohyperaldosteronism type 2, Pseudohypoaldosteronism, Pseudohypoaldosteronism 1, autosomal dominant, Pseudohypoaldosteronism type i, autosomal dominant and 1 more	negative regulation of sodium ion transport GO · q=1.86e-5
Cluster 524	6	Epidermolytic hyperkeratosis 2a, Epidermolytic hyperkeratosis 2b, autosomal recessive, Ichthyosis histrix, lambert type, Ichthyosis with confetti, Pachyonychia congenita and 1 more	intermediate filament organization GO · q=2.90e-10
Cluster 525	6	Episodic ataxia type 1, Episodic kinesigenic dyskinesia, Hereditary continuous muscle fiber activity, Myokymia, Myokymia isolated 1 and 1 more	Voltage gated Potassium channels Pathway · q=1.36e-3
Cluster 526	6	Familial infantile convulsions with paroxysmal choreoathetosis, Infantile convulsions and choreoathetosis, Movement disorders, Neurodevelopmental and movement disorder with or without seizures, Paroxysmal dystonia and 1 more	negative regulation of short-term synaptic potentiation GO · q=1.82e-3
Cluster 527	6	Erythrocyte udp-galactose-4-epimerase deficiency, Galactose epimerase deficiency, Galactose mutarotase deficiency, Galactosemia, Udp-glucose 4-epimerase deficiency and 1 more	galactose catabolic process via UDP-galactose, Leloir pathway GO · q=7.37e-13
Cluster 528	6	Familial ventricular tachycardia, Gingival diseases, Hyaline fibromatosis, Hypertrichosis, congenital generalised, with gingival hyperplasia, Retractile testis and 1 more	Rap1 signaling pathway Pathway · q=1.73e-4
Cluster 529	6	Fuhrmann syndrome, Hypogonadotropic hypogonadism 14 with or without anosmia, Limb/pelvis-hypoplasia/aplasia syndrome, Skeletal malformations syndrome, Uinary system neoplasms and 1 more	somatic stem cell division GO · q=1.73e-4
Cluster 530	6	Genetic hyperferritinemia without iron overload, Hereditary hyperferritinemia with congenital cataracts, Hyperferritinemia, Hyperferritinemia with or without cataract, L-ferritin deficiency and 1 more	Scavenging by Class H Receptors Pathway · q=7.72e-3
Cluster 531	6	Hereditary spastic paraplegia 8, Intellectual disability, congenital cardiac malformation and dandy-walker malformation, Ritscher-schinzel syndrome 1, Ritscher-schinzel syndrome 3, Ritscher-schinzel syndrome 4 and 1 more	Golgi to plasma membrane transport GO · q=8.04e-4
Cluster 532	5	Conductive hearing loss, Deafness autosomal dominant type 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2, Weissenbacher-zweymueller syndrome	sensory perception of sound GO · q=3.53e-4
Cluster 533	5	46,xy disorder of sex development, Disorders of sex development, Familial male precocious puberty, Luteinizing hormone resistance, Testotoxicosis	Steroid hormone biosynthesis Pathway · q=5.84e-12
Cluster 534	5	17q24.2 microdeletion syndrome, Developmental and speech delay, postnatal microcephaly, and dysmorphic features, Intellectual disability facial dysmorphism skeletal anomalies syndrome, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Stankiewicz-isidor syndrome	embryonic placenta development GO · q=2.44e-2
Cluster 535	5	1p36 deletion syndrome, Complex neurodevelopmental disorder with or without congenital anomalies, Neurodevelopment disorder with anomalies of the brain, eye and/or heart, nedbeh, Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Taurodontism, microdontia, and dens invaginatus	lens morphogenesis in camera-type eye GO · q=2.49e-3
Cluster 536	5	2-methylbutyryl-coa dehydrogenase deficiency, Brunet-wagner neurodevelopmental syndrome, Butyryl-coa dehydrogenase deficiency, Rheumatic disease, Short chain acyl-coa dehydrogenase deficiency	intrinsic apoptotic signaling pathway by p53 class mediator GO · q=5.48e-3
Cluster 537	5	Bulimia, Dysphonia, Intermittent explosive disorder, Perrault syndrome 5, Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration GO · q=1.50e-2
Cluster 538	5	Adams-oliver syndrome, Autoinflammation, immune dysregulation, and eosinophilia, Giant lymph node hyperplasia, Limb, scalp and skull defects, Ventricular outflow obstruction	ventricular trabecula myocardium morphogenesis GO · q=3.46e-6
Cluster 539	5	Dopa-responsive dystonia, Dystonia, dopa-responsive, with or without hyperphenylalaninemia, GTP cyclohydrolase I deficiency, Hyperphenylalaninemia, bh4-deficient, b, Sepiapterin reductase deficiency	positive regulation of nitric-oxide synthase activity GO · q=2.61e-5
Cluster 540	5	Beta-hydroxyisobutyryl-coa deacylase deficiency, Cowchock syndrome, Severe x-linked mitochondrial encephalomyopathy, X-linked hereditary sensory and autonomic neuropathy with deafness, X-linked spondyloepimetaphyseal dysplasia	protein import into mitochondrial intermembrane space GO · q=1.06e-2
Cluster 541	5	Dystonia, Dystonia 37, early-onset, with striatal lesions, Dystonia musculorum deformans, Focal dystonia, Genetic torsion dystonia	tetrahydrobiopterin biosynthetic process GO · q=3.22e-6
Cluster 542	5	Cerebral saccular aneurysm, Connective and soft tissue disorder, Polymicrogyria with or without vascular-type eds, Small intestinal enteropathy-associated t-cell lymphoma, Vascular ehlers-danlos syndrome	negative regulation of cell migration GO · q=2.84e-5
Cluster 543	5	Congenitally uncorrected transposition of the great arteries, Double outlet right ventricle, Right atrial isomerism, Right isomerism, Transposition of the great arteries	heart development GO · q=1.18e-5
Cluster 544	5	Familial partial lipodystrophy, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Lipodystrophy, Lipodystrophy syndrome with neurological features, Partial lipodystrophy	Regulation of lipolysis in adipocytes Pathway · q=3.14e-6
Cluster 545	5	Abnormality of the amniotic fluid, Abnormality of the corpus callosum, Cerebral atrophy, Cns hypomyelination, Short long bone	negative regulation of growth rate GO · q=1.28e-2
Cluster 546	5	Carotid atherosclerosis, Coffin-siris syndrome, Rhabdoid tumor predisposition syndrome, Small cell ovary carcinoma, Syndromic intellectual disability and developmental delay	regulation of G0 to G1 transition GO · q=4.10e-21
Cluster 547	5	Absence of fingerprints-congenital milia syndrome, Adermatoglyphia, Basan syndrome, Huriez syndrome, Palmoplantar keratoderma	morphogenesis of an epithelium GO · q=2.29e-3
Cluster 548	5	Acatalasemia, Aortic disease, Bonnevie-ullrich syndrome, Turner syndrome, Ureteral calculi	Detoxification of Reactive Oxygen Species Pathway · q=5.63e-7
Cluster 549	5	Alacrima, achalasia, and intellectual disability syndrome, Glucocorticoid deficiency with achalasia, Intellectual developmental disorder movement cerebellar, Intellectual disability with strabismus syndrome, Triple a syndrome	negative regulation of phosphate metabolic process GO · q=5.91e-3
Cluster 550	5	Acid-base disorder, Amed syndrome, Blepharitis, Respiratory system neoplasm, Wernicke-korsakoff syndrome	Ethanol oxidation Pathway · q=3.35e-6
Cluster 551	5	Acromegaly, Chromosome xq26.3 duplication syndrome, Growth hormone-secreting pituitary adenoma, Pituitary adenoma 1, multiple types, X-linked acrogigantism due to xq26 microduplication	cellular response to glucagon stimulus GO · q=1.13e-3
Cluster 552	5	Erythrocytosis, familial, 1, Familial polycythemia, Growth retardation, mild developmental delay, chronic hepatitis syndrome, Myelofibrosis, somatic, Polycythemia, primary familial and congenital	cellular response to interleukin-3 GO · q=6.15e-5
Cluster 553	5	Cerebellar ataxia, deafness, and narcolepsy, Dominantly inherited sensory neuropathy, Hereditary sensory and autonomic neuropathy, Hereditary sensory and autonomic neuropathy with spastic paraplegia, Sensory neuropathy	sensory perception of pain GO · q=6.76e-7
Cluster 554	5	Adult polyglucosan body disease, Exfoliation syndrome, Glycogen storage disease due to glycogen branching enzyme deficiency, Multiple pterygium syndrome, Synovitis, acne, pustulosis, hyperostosis, and osteitis	response to cocaine GO · q=1.20e-2
Cluster 555	5	Congenital disorder of glycosylation type 1r, Epileptic encephalopathy, early infantile, 49, Hypouricemia, renal, 2, Ocular hypertension, Uric acid concentration, serum, qtl 2	response to wounding GO · q=1.61e-2
Cluster 556	5	Blindness, Epileptic encephalopathy, early infantile, 38, Microphthalmia with cataracts and iris abnormalities, Microphthalmia, isolated 2, Microphthalmia/coloboma 3	visual perception GO · q=2.26e-8
Cluster 557	5	Blau syndrome, Bronchiolitis obliterans, Granulomatous inflammatory arthritis-dermatitis-uveitis, familial, Intestinal disease, Yao syndrome	positive regulation of interleukin-8 production GO · q=4.52e-5
Cluster 558	5	Alazami-yuan syndrome, Cornelia de lange syndrome, De lange syndrome, Nut midline carcinoma, Wiedemann-steiner syndrome	establishment of mitotic sister chromatid cohesion GO · q=2.53e-9
Cluster 559	5	Cervical disc degenerative disorder, Gouty arthritis, Intervertebral disc disease, Nephrosclerosis, Trigeminal neuralgia	Relaxin signaling pathway Pathway · q=5.11e-9
Cluster 560	5	Alpha-1 antichymotrypsin deficiency, Hemolytic disease of fetus and newborn, Rh deficiency syndrome, Rh isoimmunization, Rh-null, amorph type	ammonium homeostasis GO · q=4.88e-8
Cluster 561	5	Alport syndrome 2, autosomal recessive, Benign familial pemphigus, Diffuse mesangial sclerosis, Hailey-hailey disease, Hematuria, benign familial, 1	Laminin interactions Pathway · q=3.78e-4
Cluster 562	5	Atrial septal defect, Bafopathy, Congenital heart septal defect, Renpenning syndrome, Ventricular septal defect	heart development GO · q=2.65e-13
Cluster 563	5	Binge eating disorder, Congenital stenosis of aortic valve, Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Isolated systolic hypertension	Vitamin D (calciferol) metabolism Pathway · q=9.84e-4
Cluster 564	5	Amish nemaline myopathy, Childhood-onset nemaline myopathy, Nemaline myopathy 5, Nemaline myopathy 5a, autosomal recessive, severe infantile, Nemaline myopathy 5c, autosomal dominant	transition between fast and slow fiber GO · q=5.41e-5
Cluster 565	5	Autosomal recessive osteopetrosis 2, Bone resorption, Osteolysis, Otosclerosis, Uremia	skeletal system development GO · q=5.40e-11
Cluster 566	5	Autoimmune lymphoproliferative immune disorder, Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome, Splenic disease, Splenomegaly, Thyroid gland mucosa-associated lymphoid tissue lymphoma	Pathways in cancer Pathway · q=4.27e-8
Cluster 567	5	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Paget disease of bone 3, Welander distal myopathy	brown fat cell proliferation GO · q=5.03e-3
Cluster 568	5	Amyotrophic lateral sclerosis, susceptibility to, 25, Genetic neurodegenerative disease, Inherited neurodegenerative disorder, Severe neonatal myoclonus, Spastic paraplegia 10, autosomal dominant	pantothenate transmembrane transport GO · q=4.09e-3
Cluster 569	5	Analbuminemia, Anuria, Blood protein disorder, Congenital analbuminemia, Dysalbuminemic hyperthyroxinemia	positive regulation of epidermal growth factor receptor signaling pathway GO · q=4.47e-4
Cluster 570	5	Anemia, Erythrocytosis, Hemolytic anemia, Polycythemia, Secondary polycythemia	multicellular organismal-level iron ion homeostasis GO · q=3.37e-14
Cluster 571	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=2.03e-4
Cluster 572	5	Coach syndrome, Congenital hypoplasia of femur, Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis, Joubert syndrome 1, Mental retardation, truncal obesity, retinal dystrophy, and micropenis	cilium assembly GO · q=3.73e-7
Cluster 573	5	Floor of mouth mucoepidermoid carcinoma, Gestational trophoblastic disease, Hidradenoma, Mucoepidermoid carcinoma of submandibular gland, Warthin tumor	positive regulation of transcription by RNA polymerase II GO · q=1.75e-3
Cluster 574	5	Cardiomyopathy, dilated, 2g, Extraoral halitosis due to methanethiol oxidase deficiency, Hypertryptophanemia, Non-organic psychosis, Psychotic disorders	Glutamatergic synapse Pathway · q=1.01e-4
Cluster 575	5	C2 deficiency, Immunodeficiency due to c1, c4, or c2 component complement deficiency, Immunodeficiency, common variable, 7, Irritant dermatitis, Lupus	Interferon gamma signaling Pathway · q=3.11e-5
Cluster 576	5	Combined molybdoflavoprotein enzyme deficiency, Glycoprotein ia deficiency, Molybdenum cofactor deficiency b, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1	molybdopterin cofactor biosynthetic process GO · q=2.16e-5
Cluster 577	5	Craniofacial dysostosis, Lacrimo-auriculo-dento-digital syndrome (ladd), Lacrimoauriculodentodigital syndrome, Ladd syndrome, Saethre-chotzen syndrome	fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO · q=7.40e-6
Cluster 578	5	Barrett esophagus, Camptodactyly, Esophageal disease, Esophageal ulcer, Hypomagnesemia 5, renal, with ocular involvement	positive regulation of gene expression GO · q=8.63e-7
Cluster 579	5	Apocrine adenocarcinoma, Cervical adenosarcoma, Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism, familial primary, Parathyroid neoplasm	Prostate cancer Pathway · q=3.34e-11
Cluster 580	5	Congenital hypothyroidism, Congenital hypothyroidism without goiter, Congenital thyroid atrophy, Testicular disease, Thyroid agenesis	thyroid gland development GO · q=1.51e-11
Cluster 581	5	Apraxia, Cataplexy, Developmental delay with variable intellectual disability, Niemann-pick disease type c1, Ophthalmoplegia	negative regulation of neuron remodeling GO · q=1.06e-2
Cluster 582	5	Congenital primary lymphedema of gordon, Gabriele-de vries syndrome, Hemangiosarcoma, Lymphedema, hereditary, id (primary lymphedema, milroy-like), Uterine neoplasms	cell population proliferation GO · q=1.48e-19
Cluster 583	5	Ataxia with oculomotor apraxia, Ataxia with oculomotor apraxia and hypoalbuminemia, Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts, Cerebellar dysplasia with cysts with or without retinal dystrophy, Poretti-boltshauser syndrome	Base excision repair Pathway · q=2.94e-3
Cluster 584	5	Ateleiotic dwarfism, Congenital isolated growth hormone deficiency, Isolated somatotropin deficiency, Kowarski syndrome, Pituitary neoplasms	Hormone signaling Pathway · q=7.65e-8
Cluster 585	5	Bietti crystalline corneoretinal dystrophy, Coagulation disorder, Congenital prekallikrein deficiency, Fletcher factor (prekallikrein) deficiency, Inherited prekallikrein deficiency	The canonical retinoid cycle in rods (twilight vision) Pathway · q=2.12e-4
Cluster 586	5	Café-au-lait macules, Congenital malformation syndromes associated with short stature, Increased nuchal translucency, Schwannomatosis, Schwannomatosis-2, susceptibility to	Renal cell carcinoma Pathway · q=2.68e-4
Cluster 587	5	Brown-vialetto-van laere syndrome, Fazio-londe disease, Maternal riboflavin deficiency, Riboflavin deficiency, Riboflavin transporter deficiency	riboflavin metabolic process GO · q=3.29e-9
Cluster 588	5	Auditory neuropathy with optic atrophy, Autosomal recessive optic atrophy, OPA7 type, Multiple mitochondrial dysfunctions syndrome 9b, Optic atrophy mitochondrial dysfunction syndrome, Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Electron transport from NADPH to Ferredoxin Pathway · q=8.45e-3
Cluster 589	5	Autism, intellectual disability, basal ganglia dysfunction and epilepsy, Intellectual developmental disorder seizures extrapyramidal, Mental retardation, autosomal dominant 24, Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, Vulto-van silfhout-de vries syndrome	regulation of grooming behavior GO · q=8.81e-3
Cluster 590	5	Parotid gland pleomorphic adenoma, Salivary gland basal cell adenocarcinoma, Salivary gland carcinoma ex pleomorphic adenoma, Salivary gland mucoepidermoid carcinoma, Salivary gland pleomorphic adenoma	Prostate cancer Pathway · q=4.50e-10
Cluster 591	5	Autoimmune enteropathy and endocrinopathy, Candidiasis, familial, 7, Immunodeficiency 31b, Immunodeficiency 31c, autosomal dominant, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	negative regulation of metanephric nephron tubule epithelial cell differentiation GO · q=1.82e-3
Cluster 592	5	Autoimmune hemolytic anemia, Autoimmune thrombocytopenic purpura, Autoimmunity-autoinflammation-immunodeficiency syndrome, Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome, familial, with or without immunodeficiency	positive regulation of Wnt signaling pathway, planar cell polarity pathway GO · q=2.40e-3
Cluster 593	5	Microphthalmia syndromic type 3, optic nerve hypoplasia and abnormalities of the central nervous system, Microphthalmia, syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system, Sensorineural hearing loss, Thoracic neoplasms	pituitary gland development GO · q=3.14e-3
Cluster 594	5	Familial isolated hypoparathyroidism, Hyperparathyroidism, Hypoparathyroidism, Hypoparathyroidism, familial isolated, 1, Hypoparathyroidism, familial isolated, 2	Parathyroid hormone synthesis, secretion and action Pathway · q=1.38e-6
Cluster 595	5	Autoinflammation with arthritis and dyskeratosis, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Palmoplantar carcinoma, multiple self-healing, Respiratory papillomatosis, juvenile recurrent, congenital, Vitiligo-associated multiple autoimmune disease susceptibility 1	canonical inflammasome complex assembly GO · q=3.05e-3
Cluster 596	5	Autoinflammation with arthritis and vasculitis, Corticobasal syndrome, Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Reticulate acropigmentation of kitamura	constitutive protein ectodomain proteolysis GO · q=4.09e-3
Cluster 597	5	Autonomic nervous system disease, Bladder dysfunction, Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut, Hirschsprung disease, cardiac defects, and autonomic dysfunction, Urinary bladder dysfunction	regulation of acetylcholine secretion, neurotransmission GO · q=4.09e-3
Cluster 598	5	Bilateral generalized polymicrogyria, Microcephalic primordial dwarfism, Microcephaly with or without short stature, Microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature, Microcephaly, short stature, and polymicrogyria with seizures	centriole replication GO · q=4.86e-4
Cluster 599	5	Ayme-gripp syndrome, Cataract 21, multiple types, Cataract-multisystem syndrome, Cataract, pulverulent or cerulean, with or without microcornea, Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation	snRNA pseudouridine synthesis GO · q=1.21e-5
Cluster 600	5	Bartsocas-papas syndrome, Condition, Curly hair ankyloblepharon nail dysplasia syndrome, Popliteal pterygium syndrome, Popliteal pterygium syndrome, bartsocas-papas type 1	skin development GO · q=1.04e-3
Cluster 601	5	Basal ganglia disease, Fahr's disease, Idiopathic basal ganglia calcification, Myopathy with extrapyramidal signs, Primary familial brain calcification	negative regulation of synaptic transmission, glutamatergic GO · q=1.84e-5
Cluster 602	5	Beare-stevenson cutis gyrata syndrome, Crouzon syndrome, Jackson-weiss syndrome, Pfeiffer syndrome, Triple negative breast cancer	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO · q=2.27e-4
Cluster 603	5	Benign ovarian mucinous tumor, Oropharyngeal dysphagia, Spinocerebellar ataxia, x-linked, X-linked non progressive cerebellar ataxia, X-linked progressive cerebellar ataxia	Ras protein signal transduction GO · q=1.14e-5
Cluster 604	5	Beta-mannosidosis, Febrile seizures, familial, 4, Post-operative atrial fibrillation, Usher syndrome type 2, Usher syndrome, type 2c, gpr98/pdzd7 digenic	sensory perception of light stimulus GO · q=3.28e-6
Cluster 605	5	Cap myopathy, Congenital generalized hypercontractile muscle stiffness syndrome, Congenital myopathy 4a, autosomal dominant, Congenital myopathy 4b, autosomal recessive, Nemaline myopathy 1, autosomal dominant or recessive	Cytoskeleton in muscle cells Pathway · q=1.96e-4
Cluster 606	5	Bleeding esophageal varices, Esophageal and gastric varices, Esophageal varices, Sweat gland disease, Vipoma	lipid homeostasis GO · q=4.40e-3
Cluster 607	5	Blomstrand lethal chondrodysplasia, Eiken skeletal dysplasia, Eiken syndrome, Primary failure of tooth eruption, Rickets	Parathyroid hormone synthesis, secretion and action Pathway · q=5.76e-6
Cluster 608	5	Bone remodeling disease, Neurocardiofaciodigital syndrome, Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, Synpolydactyly, Synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses	respiratory gaseous exchange by respiratory system GO · q=6.04e-3
Cluster 609	5	Brooke-spiegler syndrome, Familial cylindromatosis, Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, Multiple familial trichoepithelioma, Trichoblastoma	Thyroid cancer Pathway · q=6.05e-4
Cluster 610	5	Duane retraction syndrome 2, Robinow syndrome, Robinow syndrome, autosomal dominant 2, Robinow syndrome, autosomal dominant 3, Robinow syndrome, autosomal recessive 2	Wnt signaling pathway GO · q=6.27e-10
Cluster 611	5	Brain atrophy, Neurodegeneration, childhood-onset, with progressive microcephaly, Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, Optic atrophy 9	protein transmembrane transport GO · q=2.37e-3
Cluster 612	5	Brain stem astrocytic neoplasm, Fibrodysplasia ossificans progressiva, Optic tract astrocytoma, Retina neoplasm, Retinitis pigmentosa 86	gastrulation GO · q=9.96e-4
Cluster 613	5	Brain stem neoplasms, Cutaneous malignant melanoma 3, Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, Melanoma, cutaneous malignant, susceptibility to, 3	Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Pathway · q=4.01e-9
Cluster 614	5	Hemochromatosis type 1, Mannose-binding protein deficiency, Polymyalgia rheumatica, Porphyruria, Variegate porphyria	negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I GO · q=5.91e-3
Cluster 615	5	Byzanthine arch palate, Child syndrome xld, Ck syndrome, Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, Perisylvian polymicrogyria	prostate epithelial cord elongation GO · q=1.16e-4
Cluster 616	5	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, Inherited thrombocytopenia, Lateral meningocele syndrome, Myofibromatosis, infantile 2	glomerular capillary formation GO · q=8.81e-3
Cluster 617	5	Cardiac and skeletal myopathy, Cardiomyopathy, dilated, 1aa, with or without left ventricular non-compaction, Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction, Myopathy, congenital with structured cores and z-line abnormalities, Myopathy, distal, 6, adult onset	actin filament uncapping GO · q=1.82e-3
Cluster 618	5	Carnitine palmitoyltransferase 2 deficiency, infantile, Carnitine palmitoyltransferase 2 deficiency, lethal neonatal, Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced, Carnitine palmitoyltransferase deficiency, Carnitine palmitoyltransferase i deficiency, hepatic, type ia	carnitine shuttle GO · q=1.21e-5
Cluster 619	5	Cataract 38, autosomal recessive, Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome, Sengers syndrome, Trichohepatoenteric syndrome, Triokinase and fmn cyclase deficiency	apoptotic mitochondrial changes GO · q=9.57e-4
Cluster 620	5	Cataract-neurodevelopmental syndrome, Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 upregulation, Peroxisomal fatty acyl-coa reductase 1 disorder, Severe intellectual disability, epilepsy, and cataracts	fatty acid derivative metabolic process GO · q=1.82e-3
Cluster 621	5	Cerebellar cortical atrophy, Elejalde syndrome, Griscelli syndrome, Griscelli syndrome type 1, Griscelli syndrome type 2	melanosome transport GO · q=2.94e-7
Cluster 622	5	Gastroschisis, Huntington disease, Lenz-majewski hyperostotic dwarfism, Salt-sensitive hypertension, Ventriculomegaly	cellular response to hydrogen peroxide GO · q=6.07e-7
Cluster 623	5	Cerebrofaciothoracic dysplasia, Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome, Hypogonadotropic hypogonadism 16 with or without anosmia, Parenchymal hematoma, Skeletal anomalies	multi-pass transmembrane protein insertion into ER membrane GO · q=4.78e-4
Cluster 624	5	Childhood-onset benign chorea with striatal involvement, Childhood-onset chorea with bilateral striatal lesions, Dyskinesia, limb and orofacial, infantile-onset, Striatal degeneration, autosomal dominant, Striatal degeneration, autosomal dominant 2	regulation of cAMP/PKA signal transduction GO · q=9.43e-3
Cluster 625	5	Chime syndrome, Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome, Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome (chime), Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development, Zunich neuroectodermal syndrome	enterocyte differentiation GO · q=3.05e-3
Cluster 626	5	Choroidal melanoma, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondylometaepiphyseal dysplasia, short limb-hand type, Warburg-cinotti syndrome	positive regulation of hepatic stellate cell proliferation GO · q=1.06e-2
Cluster 627	5	Houge janssens syndrome, Intellectual developmental disorder growth behavioral, Intellectual developmental disorder macrocephaly hypotonia behavioral, Mental retardation, autosomal dominant 35, Neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures	APC truncation mutants have impaired AXIN binding Pathway · q=1.83e-10
Cluster 628	5	Circumferential skin creases kunze type, Developmental disorder with cleft palate, cranial malformations and circumferential skin creases (kunze type), Skin creases, congenital symmetric circumferential, 1, Skin creases, congenital symmetric circumferential, 2, Symmetric circumferential skin creases, congenital, 2	spindle assembly GO · q=2.69e-4
Cluster 629	5	Commissural facial cleft, Facial clefting, oblique, 1, Opitz gbbb syndrome, Opitz gbbb syndrome, type ii, Tessier facial cleft	cell fate determination GO · q=6.29e-4
Cluster 630	5	Lissencephaly 2 (norman-roberts type), Lissencephaly with cerebellar hypoplasia, Roberts syndrome, Sacroiliac arthritis, Sacroiliac joint synovitis	layer formation in cerebral cortex GO · q=1.76e-4
Cluster 631	5	Colobomatous optic disc macular atrophy chorioretinopathy syndrome, Mac spectrum, Microphthalmia with cataract 2, Microphthalmia, isolated, with cataract, Optic disc anomalies with retinal and/or macular dystrophy	eye development GO · q=3.35e-2
Cluster 632	5	Colorectal cancer, hereditary nonpolyposis, type 8, Congenital chronic diarrhea with protein-losing enteropathy, Congenital diarrhea, Congenital epithelial dysplasia of intestine, Congenital tufting enteropathy	Intestinal infectious diseases Pathway · q=1.05e-2
Cluster 633	5	Combined factor v and factor viii deficiency, Combined immunodeficiency, enteropathy spectrum, Gastrointestinal defects and immunodeficiency syndrome, Intestinal atresia, inflammatory bowel disease and immunodeficiency, Multiple intestinal atresia	Transport to the Golgi and subsequent modification Pathway · q=4.23e-6
Cluster 634	5	Immunodeficiency 53, Immunodeficiency, common variable, 5, Inflammatory bowel disease 1, Inflammatory skin and bowel disease, neonatal, 1, Recurrent infections	response to cytokine GO · q=7.24e-5
Cluster 635	5	Combined oxidative phosphorylation defect, Deafness, autosomal recessive 70, Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration, Mitochondrial disease with regression and lactic acidosis, Respiratory chain disorder	Aminoacyl-tRNA biosynthesis Pathway · q=2.97e-7
Cluster 636	5	Deafness, autosomal recessive 94, Dend syndrome, Diabetes, permanent neonatal, with or without neurologic features, Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency, Hyperinsulinemic hypoglycemia, familial, 2	Defective ABCC8 can cause hypoglycemias and hyperglycemias Pathway · q=2.29e-6
Cluster 637	5	Congenital epileptic encephalopathy and severe neuromuscular disorder, Congenital nervous system disorder, Neurodevelopmental disorder with ataxia and tremor or dyskinetic movements, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	neuronal dense core vesicle exocytosis GO · q=5.03e-3
Cluster 638	5	Congenital hypoplasia of pancreas, Maturity-onset diabetes of the young, type iv, Pancreatic agenesis 1, Pancreatic beta-cell agenesis with neonatal diabetes mellitus, Partial pancreatic agenesis	pancreas development GO · q=2.02e-9
Cluster 639	5	Congenital keratoglobus, Glaucoma 3, primary congenital, d, Megalocornea 1, x-linked, Microspherophakia, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	establishment of protein localization to extracellular region GO · q=6.71e-3
Cluster 640	5	Congenital methemoglobinemia, Cytochrome-b5 reductase deficiency, Dihydrolipoamide dehydrogenase deficiency, Methemoglobinemia due to deficiency of methemoglobin reductase, Methemoglobinemia type i and ii	2-oxoglutarate decarboxylation to succinyl-CoA GO · q=3.05e-3
Cluster 641	5	Congenital muscular dystrophies, Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a11, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a12, Myopathy caused by variation in GMPPB	O-linked glycosylation Pathway · q=1.29e-7
Cluster 642	5	Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2C, Congenital myasthenic syndrome, biallelic, Congenital myasthenic syndrome, monoallelic, Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	postsynaptic membrane organization GO · q=3.05e-3
Cluster 643	5	Hypocalcemic vitamin d-dependent rickets, Pancreatic trypsinogen deficiency, Peptic esophagitis, Rickets due to defect in vitamin d 25-hydroxylation, Vitamin d dependent rickets	calcitriol biosynthetic process from calciol GO · q=7.98e-8
Cluster 644	5	Hemifacial microsomia, T-cell immunodeficiency, T-cell immunodeficiency, congenital alopecia, and nail dystrophy, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, Thymic hypoplasia	hair follicle development GO · q=2.09e-3
Cluster 645	5	Cryohydrocytosis, Distal renal tubular acidosis, Ovalocytosis, sa type cryohydrocytosis, Ovalocytosis, southeast asian, Spherocytoisis type 4	Collecting duct acid secretion Pathway · q=5.21e-7
Cluster 646	5	Cutis laxa, autosomal dominant, 2, Cutis laxa, autosomal recessive, 1a, Cutis laxa, autosomal recessive, type ia, Demyelinating hereditary motor and sensory neuropathy, Proximal spinal muscular atrophy	DNA-templated transcription termination GO · q=1.52e-6
Cluster 647	5	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase, Lipoyltransferase deficiency, Progressive childhood encephalopathy and golgi dysfunction	protein lipoylation GO · q=3.32e-5
Cluster 648	5	Erythrocyte lactate transporter defect, Fatty acid and ketone body metabolism disorder, Fatty acid oxidation and ketone body metabolism disorder, Monocarboxylate transporter 1 deficiency, Symptomatic deficiency in lactate transport	mevalonate transport GO · q=1.82e-3
Cluster 649	5	Hyper-immunoglobulin e syndrome 2, autosomal recessive, with recurrent infections, Hyper-immunoglobulin e syndrome with recurrent infections, Insulin dependent diabetes mellitus secretory diarrhea syndrome, Intellectual developmental disorder, autosomal dominant 2, Ritscher-schinzel syndrome 2	memory T cell proliferation GO · q=4.09e-3
Cluster 650	5	Pulmonary hypertension, familial primary, 1, with or without hht, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, Pulmonary venoocclusive disease 1, Right bundle branch block, Right cardiac ventricular dilatation	semi-lunar valve development GO · q=1.82e-3
Cluster 651	5	Hypomyelinating leukodystrophy 3, Pelizaeus-merzbacher disease, Spastic paraplegia 13, autosomal dominant, Spastic paraplegia 4, autosomal dominant, Spastic paraplegia, x-linked	central nervous system myelination GO · q=6.74e-4
Cluster 652	5	Leukodystrophy, hypomyelinating with or without oligodontia and/or hypogonadotropic hypogonadism, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, Neurodevelopmental disorder with or without seizures, ataxia, spasticity, and demyelinating neuropathy, POLR3B-related disorder, Tremor-ataxia-central hypomyelination syndrome	Cytosolic sensors of pathogen-associated DNA Pathway · q=1.01e-4
Cluster 653	5	Ichthyosis, follicular, with atrichia and photophobia syndrome, Ichthyosis, follicular, with atrichia and photophobia syndrome 2, Ifap syndrome 2, Mucoepithelial dysplasia, Urban-schosser-spohr syndrome	regulation of heart rate by chemical signal GO · q=3.05e-3
Cluster 654	5	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Neutrophil immunodeficiency syndrome, Reticular dysgenesis	regulation of mast cell chemotaxis GO · q=3.05e-3
Cluster 655	5	Intellectual developmental disorder, autosomal dominant 62, Leber-like hereditary optic neuropathy, autosomal recessive 1, Marfanoid habitus, Very long-chain acyl-coa dehydrogenase deficiency, Williams syndrome	positive regulation of neuron projection arborization GO · q=1.88e-3
Cluster 656	5	Multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 2, Post-operative acute kidney injury, Spastic paraplegia 93, autosomal recessive	iron-sulfur cluster assembly GO · q=3.54e-3
Cluster 657	5	Nabais sa-de vries syndrome 1, Nabais sa-de vries syndrome 2, Neurodevelopmental disorder with microcephaly and dysmorphic facies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder, gain of function	regulation of proteolysis GO · q=1.23e-2
Cluster 658	5	Neurodevelopmental disorder with distinct white matter changes, Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, Neurodevelopmental disorder with microcephaly and seizures, Neurodevelopmental disorder with poor growth and skeletal anomalies, Renu syndrome	mRNA 3'-end processing by stem-loop binding and cleavage GO · q=1.37e-2

658 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?