Disease Clusters | GeDiPNet

Adrenocorticotropic hormone deficiency 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 →

6,196 of 9,373 diseases (66%) fall into one of 644 clusters. The remaining 3,177 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	266	Abdominal obesity-metabolic syndrome 3, Acinic cell breast carcinoma, Adnexal spiradenoma/cylindroma of a sweat gland, Adrenal cortex carcinoma, Adrenal gland neuroblastoma and 261 more	positive regulation of transcription by RNA polymerase II GO · q=2.47e-80
Cluster 2	143	Acantholytic blistering of oral and laryngeal mucosa, Acinar lung adenocarcinoma, Acral lentiginous melanoma, Acute myeloid leukemia, Adenoid cystic carcinoma and 138 more	positive regulation of transcription by RNA polymerase II GO · q=6.55e-56
Cluster 3	65	1q44 microdeletion syndrome, Aspartylglucosaminuria, Cardiofacio-neurodevelopmental syndrome, Complex neurodevelopmental disorder, Congenital neurologic anomalies and 60 more	nervous system development GO · q=1.33e-44
Cluster 4	63	Anti-neutrophil antibody associated vasculitis, Antiphospholipid syndrome, Arthritis, Autoimmune musculoskeletal system disorder, Autoimmune polyendocrine syndrome and 58 more	Allograft rejection Pathway · q=2.57e-18
Cluster 5	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=2.24e-22
Cluster 6	57	Al-raqad syndrome, Auditory neuropathy, Auditory neuropathy, autosomal dominant, 1, Autosomal dominant nonsyndromic hearing loss, Congenital ear anomaly and 52 more	sensory perception of sound GO · q=2.06e-91
Cluster 7	34	Aminoaciduria, Aneurysm, Aortic aneurysm, Bone marrow failure and diabetes mellitus syndrome, Cardiomyopathy, dilated, 2j and 29 more	skeletal system development GO · q=1.12e-22
Cluster 8	31	Abdominal obesity-metabolic syndrome 4, Acetyl-coa carboxylase deficiency, Arteriosclerosis, Atherosclerosis, Atrial fibrillation and 26 more	positive regulation of transcription by RNA polymerase II GO · q=3.72e-24
Cluster 9	30	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 25 more	Pathways in cancer Pathway · q=1.76e-41
Cluster 10	29	Achromatopsia, Cone dystrophy, Cone-rod dystrophy, Cone-rod dystrophy 2, Corneal degeneration and 24 more	visual perception GO · q=1.87e-114
Cluster 11	28	Anisometropia, Atrophy, Atypical ductal hyperplasia, Bannayan-riley-ruvalcaba syndrome, Breast and ovarian cancer and 23 more	Non-small cell lung cancer Pathway · q=3.07e-14
Cluster 12	27	Autosomal recessive spinocerebellar ataxia 16, Cayman type cerebellar ataxia, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy and 22 more	Spinocerebellar ataxia Pathway · q=1.46e-11
Cluster 13	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=4.78e-87
Cluster 14	27	Amyotrophic lateral sclerosis type 15, Brody myopathy, Cohen syndrome, Congenital hypogonadotrophic hypogonadism, Growth hormone deficiency and 22 more	pituitary gland development GO · q=5.59e-8
Cluster 15	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=3.81e-40
Cluster 16	26	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Combined oxidative phosphorylation deficiency, Cytochrome c oxidase deficiency, Early onset isolated mitochondrial complex i deficiency, Ethylmalonic encephalopathy and 21 more	Respiratory electron transport Pathway · q=2.58e-70
Cluster 17	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=5.00e-9
Cluster 18	25	5-oxoprolinase deficiency, Atrial flutter, Atrioventricular block, Brugada syndrome, Cardiac arrest and 20 more	regulation of heart rate by cardiac conduction GO · q=2.05e-48
Cluster 19	25	Benign neoplasm of brain, Brain disease, Congenital kidney anomaly, Cortical dysplasia, Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 and 20 more	Herpes simplex virus 1 infection Pathway · q=4.60e-7
Cluster 20	24	Acromicric dysplasia, Arachnodactyly, Arc syndrome, Arthrogryposis-renal dysfunction-cholestasis syndrome, Autosomal recessive craniosynostosis and 19 more	Defective B3GALTL causes Peters-plus syndrome (PpS) Pathway · q=9.47e-7
Cluster 21	24	Acute lymphoblastic leukemia, Autosomal dominant combined immunodeficiency, Combined immunodeficiency, Dna ligase iv deficiency, Dubowitz syndrome and 19 more	immune system process GO · q=2.34e-24
Cluster 22	24	Amnesia, Amphetamine or sympathomimetic abuse, Anhedonia, Bradycardia, Catalepsy and 19 more	Neuroactive ligand-receptor interaction Pathway · q=2.27e-41
Cluster 23	24	Atypical multiple mole melanoma syndrome, Brain stem neoplasms, Bryant-li-bhoj neurodevelopmental syndrome, Clear cell chondrosarcoma, Cutaneous malignant melanoma 3 and 19 more	Hepatocellular carcinoma Pathway · q=1.83e-11
Cluster 24	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=2.16e-3
Cluster 25	21	Acheiropody, Eye abnormalities, Frank-ter haar syndrome, Holoprosencephaly 3, Hypoplasia or aplasia of tibia with polydactyly and 16 more	embryonic digit morphogenesis GO · q=7.15e-10
Cluster 26	20	17q11 microdeletion syndrome, Cafe-au-lait spots, Cervical lymphadenopathy, Collecting duct carcinoma, Embryonal nuclear cataract and 15 more	Chronic myeloid leukemia Pathway · q=5.29e-9
Cluster 27	20	17q23.1q23.2 microdeletion syndrome, Amelia, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, Arthropathy, Chromosome 17q23.1-q23.2 duplication syndrome and 15 more	embryonic hindlimb morphogenesis GO · q=1.79e-6
Cluster 28	20	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 15 more	canonical Wnt signaling pathway GO · q=1.33e-5
Cluster 29	20	Cataract, Cataract 15, multiple types, Cataract 17, multiple types, Cataract 19, multiple types, Cataract 20, multiple types and 15 more	lens development in camera-type eye GO · q=4.56e-26
Cluster 30	19	Biliary tract cancer, Cancer, Cervical cancer, Chromosome 20q11-q12 deletion syndrome, Cutaneous squamous cell carcinoma and 14 more	Pathways in cancer Pathway · q=9.28e-15
Cluster 31	19	Ataxia with intention tremor and hypotonia, Cervical dysplasia, Congenital plasminogen activator inhibitor deficiency type 1, Hematologic disease, Hepatic vein thrombosis and 14 more	cellular response to lipopolysaccharide GO · q=6.66e-9
Cluster 32	19	Bowen’s disease, Calcifying nested epithelial stromal tumor of the liver, Cecal neoplasms, Colorectal hamartoma, Ependymoblastoma and 14 more	Thyroid cancer Pathway · q=2.35e-6
Cluster 33	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=4.05e-5
Cluster 34	18	Allergic contact dermatitis, Atopic dermatitis, Autoimmune hepatitis, Autoinflammation with episodic fever and immune dysregulation, Behcet disease and 13 more	immune response GO · q=5.15e-52
Cluster 35	17	Abetalipoproteinemia, Carotid artery disease, Congenital hyperinsulinism, Diabetic ketoacidosis, Glycogen storage disease I and 12 more	Maturity onset diabetes of the young Pathway · q=1.30e-17
Cluster 36	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=1.15e-5
Cluster 37	17	Acute disseminated encephalomyelitis, Aortic arch syndrome, Apolipoprotein b hypobetalipoproteinemia, Autoimmune gastritis, Autoimmune pulmonary alveolar proteinosis and 12 more	Type I diabetes mellitus Pathway · q=5.52e-9
Cluster 38	17	Angiomatoid fibrous histiocytoma, Askin tumor, Benign fibrous histiocytoma, Bleeding disorder, platelet-type, 21, Cavernous hemangioma and 12 more	Prostate cancer Pathway · q=5.23e-9
Cluster 39	17	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 12 more	heme B biosynthetic process GO · q=8.19e-21
Cluster 40	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=5.49e-64
Cluster 41	17	Beta-thalassemia HBB/LCRB, Cooleys anemia, Dominant beta-thalassemia, Erythrocytosis, familial, 6, Hemoglobin c beta thalassemia and 12 more	carbon dioxide transport GO · q=3.98e-4
Cluster 42	16	Atrial septal defect, Bafopathy, Chromosome 15q deletion syndrome, Congenital heart defects, Congenital heart disease and 11 more	heart development GO · q=5.08e-49
Cluster 43	16	Avoidant restrictive food intake disorder, Bile duct calculus, Carotid artery stenosis, Cavitary optic disc anomalies, Cavitary optic disk anomaly and 11 more	response to amphetamine GO · q=3.23e-7
Cluster 44	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=7.64e-7
Cluster 45	16	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 11 more	positive regulation of male gonad development GO · q=5.25e-15
Cluster 46	16	Aapoai amyloidosis, Amyloid polyneuropathy, Amyloidosis, Amyloidosis, 3 or more types, Amyloidosis, primary localized cutaneous, 2 and 11 more	lipoprotein metabolic process GO · q=4.51e-14
Cluster 47	16	Acrocallosal syndrome, Al-gazali-bakalinova syndrome, Anorectal malformation, Cronkhite-canada syndrome, Greig cephalo-poly-syndactyly syndrome and 11 more	lung development GO · q=8.90e-5
Cluster 48	16	Congenital hereditary endothelial dystrophy, Congenital stromal corneal dystrophy, Corneal disease, Corneal dystrophy, Corneal dystrophy, gelatinous drop-like and 11 more	visual perception GO · q=1.01e-7
Cluster 49	16	Ankylosing spondylitis, Asthma, Dental caries, Eczema, Inflammatory skin disease and 11 more	Inflammatory bowel disease Pathway · q=4.15e-26
Cluster 50	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=4.50e-35
Cluster 51	15	Apert syndrome, Cataract-intellectual disability-hypogonadism syndrome, Congenital malformation syndromes predominantly affecting facial appearance, Corpus callosum agenesis with facial anomalies and cerebellar ataxia, Craniofacial microsomia and 10 more	PI3K Cascade Pathway · q=1.81e-5
Cluster 52	15	Alport syndrome, Alport syndrome 3a, autosomal dominant, Alport syndrome 3b, autosomal recessive, Alport syndrome, x-linked, Congenital hearing disorder and 10 more	glomerular basement membrane development GO · q=3.65e-7
Cluster 53	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=1.28e-7
Cluster 54	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=1.43e-14
Cluster 55	15	Alpha thalassemia x-linked intellectual disability, Alpha-thalassemia intellectual developmental disorder syndrome non-deletion type, Astroblastoma, Atr-x syndrome, Choroid plexus carcinoma and 10 more	chromatin remodeling GO · q=4.51e-5
Cluster 56	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=2.09e-12
Cluster 57	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=1.60e-10
Cluster 58	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=1.57e-11
Cluster 59	15	Arrhythmogenic right ventricular cardiomyopathy, Barth syndrome, Cardiomyopathy, Cardiomyopathy, dilated, 2e, Cardiomyopathy, dilated, 2h and 10 more	cardiac muscle contraction GO · q=7.44e-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=8.07e-9
Cluster 61	15	Atrial standstill, Cardiac rhythm disease, Dilated cardiomyopathy 1E, Ectopic rhythm, Heart block, nonprogressive and 10 more	regulation of heart rate by cardiac conduction GO · q=1.11e-7
Cluster 62	15	Bone mineral density quantitative trait locus, Camurati-engelmann syndrome, Cleft palate proliferative retinopathy developmental delay, Delayed puberty, self-limited, Endosteal hyperostosis, worth type and 10 more	Norrin signaling pathway GO · q=2.71e-4
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=2.28e-3
Cluster 64	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=6.59e-6
Cluster 65	14	Bleeding disorder, platelet-type, 22, Carotid artery thrombosis, Glanzmann thrombasthenia, Hemorrhagic disease, Macrothrombocytopenia and 9 more	blood coagulation GO · q=1.19e-40
Cluster 66	14	Autoimmune disease, Autoimmune thyroid disease, Autoinflammation with pulmonary and cutaneous vasculitis, Cardiomyopathy, dilated, 2k, Celiac disease and 9 more	immune response GO · q=8.32e-33
Cluster 67	14	Aplastic anemia, Bone marrow failure syndromes, Diamond blackfan anemia with mandibulofacial dysostosis, Diamond-blackfan anemia, Dyskeratosis congenita and 9 more	SRP-dependent cotranslational protein targeting to membrane Pathway · q=1.15e-32
Cluster 68	14	Aids, rapid progression to, Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema, Autoinflammatory disease, systemic, x-linked, Bloch sulzberger syndrome, Charcot-Marie-Tooth disease type 4B2 and 9 more	Intestinal immune network for IgA production Pathway · q=3.71e-7
Cluster 69	14	Aphasia, Cardiac tamponade, Commisural aphasia, Cutis laxa, autosomal dominant 1, Dejerine-lichtheim phenomenon and 9 more	positive regulation of chronic inflammatory response to antigenic stimulus GO · q=5.68e-5
Cluster 70	14	Aldolase a deficiency, Danon disease, Dimauro disease, Exercise induced rhabdomyolysis, Glycogen phosphorylase kinase deficiency and 9 more	glycogen metabolic process GO · q=4.52e-23
Cluster 71	14	Combined low ldl and fibrinogen, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1a, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type iii and 9 more	N-Glycan biosynthesis Pathway · q=1.14e-45
Cluster 72	14	Azoospermia, Congenital impairment of spermatozoa motility, Fanconi anemia complementation group V, Male infertility, Male infertility single gene azoospermia and 9 more	spermatogenesis GO · q=5.90e-59
Cluster 73	14	Amyotrophic lateral sclerosis type 6, Angiolipoma, Congenital fibrosarcoma, Cutaneous fibrous histiocytoma, Epithelioid hemangioendothelioma and 9 more	PI3K-Akt signaling pathway Pathway · q=1.90e-10
Cluster 74	14	Anemia, Beta thalassemia, Digenic hemochromatosis, Hemochromatosis, Hemochromatosis type 2A and 9 more	multicellular organismal-level iron ion homeostasis GO · q=9.19e-20
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=4.35e-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=1.89e-5
Cluster 77	14	B cell expansion with nfkb and t cell anergy (benta), autosomal dominant, B-cell expansion with nfkb and t-cell anergy, Benta disease, Cohen-gibson syndrome, Congenital cardiovascular anomaly and 9 more	facultative heterochromatin formation GO · q=4.74e-6
Cluster 78	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=7.41e-5
Cluster 79	14	Clear cell sarcoma, Dermatofibrosarcoma protuberans, Desmoplastic small round cell tumor, Extraskeletal myxoid chondrosarcoma, Lipoma and 9 more	positive regulation of transcription by RNA polymerase II GO · q=7.02e-28
Cluster 80	13	11p partial monosomy syndrome, Ambiguous genitalia, Anus neoplasms, Cataract 30, pulverulent, Denys drash syndrome and 8 more	positive regulation of gene expression GO · q=9.95e-5
Cluster 81	13	Angelman syndrome, Autism, susceptibility to, x-linked 6 (includes intellectual disability), Autism, x-linked, Bruxism, Bulbar palsy and 8 more	social behavior GO · q=5.80e-5
Cluster 82	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=3.72e-4
Cluster 83	13	Achondroplasia, Camptodactyly, tall stature, and hearing loss syndrome, Catshl syndrome, Cheilitis, Crouzon syndrome with acanthosis nigricans and 8 more	Bladder cancer Pathway · q=5.82e-9
Cluster 84	13	Follicular thyroid cancer, Laryngeal carcinoma, Laryngeal neoplasms, Linear nevus sebaceous syndrome, Male reproductive system disease and 8 more	Thyroid cancer Pathway · q=3.31e-13
Cluster 85	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=4.19e-3
Cluster 86	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=6.66e-8
Cluster 87	13	Albright hereditary osteodystrophy, Exocrine pancreatic carcinoma, Fibrous dysplasia, Macronodular adrenal hyperplasia, Mccune-albright syndrome and 8 more	Cushing syndrome Pathway · q=1.72e-4
Cluster 88	13	Argininosuccinic aciduria, Cholestasis, neonatal intrahepatic, caused by citrin deficiency, Citrin deficiency, Citrullinemia, Citrullinemia type 2, adult onset and 8 more	urea cycle GO · q=1.57e-17
Cluster 89	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=1.52e-15
Cluster 90	13	Autoimmune lymphoproliferative immune disorder, Conjunctivitis, Dysplasminogenemia, Hypoplasminogenemia, Laryngeal disease and 8 more	Pathways in cancer Pathway · q=8.43e-7
Cluster 91	13	Autoinflammation, antibody deficiency, and immune dysregulation, Autosomal dominant sensorineural deafness, Cinca syndrome, Cold autoinflammatory syndrome, Cold urticaria, familial and 8 more	positive regulation of interleukin-1 beta production GO · q=1.02e-3
Cluster 92	13	Blood coagulation disorder, Cerebral hemorrhage, Disseminated intravascular coagulation, Fetal erythroblastosis, Hemophilia a and 8 more	blood coagulation GO · q=2.77e-46
Cluster 93	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=1.53e-6
Cluster 94	13	Dilated cardiomyopathy 1A, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Emery-dreifuss muscular dystrophy, Familial partial lipodystrophy type 2, Heart-hand syndrome, slovenian type and 8 more	Cytoskeleton in muscle cells Pathway · q=7.11e-7
Cluster 95	13	Cranio-cervical dystonia, Dravet syndrome, Early-onset generalized dystonia, Epileptic encephalopathy, early infantile, Epileptic encephalopathy, early infantile, 21 and 8 more	monoatomic ion transmembrane transport GO · q=6.59e-16
Cluster 96	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=9.33e-4
Cluster 97	13	Biotinidase deficiency, Bone remodeling disease, Brachydactyly-syndactyly syndrome, Brachymesophalangy, Cryptorchidism and 8 more	face morphogenesis GO · q=6.46e-5
Cluster 98	13	Clear cell papillary renal cell carcinoma, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness, Commad syndrome, Congenital sensorineural hearing loss, Deafness, autosomal dominant 15 and 8 more	sensory perception of sound GO · q=5.20e-6
Cluster 99	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=9.25e-10
Cluster 100	12	Anovulation, Congenital disorder of glycosylation, type iit, Dyslipidemias, Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, Hypercholesterolemia and 7 more	cholesterol homeostasis GO · q=4.16e-26
Cluster 101	12	Autoinflammatory-pancytopenia syndrome, Cherubism, Diabetes mellitus type 1, Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypothyroidism and 7 more	immune response GO · q=2.49e-31
Cluster 102	12	Adenosine kinase deficiency, Amino acid metabolism disorder, Cystathioninuria, Glycine n-methyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency and 7 more	Biosynthesis of amino acids Pathway · q=3.11e-8
Cluster 103	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=1.59e-4
Cluster 104	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=7.46e-8
Cluster 105	12	Abnormality of brain morphology, Alagille syndrome, Autoinflammatory syndrome, familial, behcet-like, Follicular cyst, Hajdu-cheney syndrome and 7 more	apoptotic process GO · q=2.00e-6
Cluster 106	12	Autosomal dominant oculodentodigital dysplasia, Bilateral microphthalmos, Erythrokeratodermia variabilis et progressiva 3, Hallermanns syndrome, Hallervorden spatz syndrome and 7 more	positive regulation of ossification GO · q=8.51e-5
Cluster 107	12	Acanthoma, Congenital myopathy with excess of muscle spindles, Folliculitis, Non-neoplastic nevus, Penile neoplasms and 7 more	Endometrial cancer Pathway · q=5.84e-8
Cluster 108	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=1.66e-7
Cluster 109	12	Anhydramnios, Coronary restenosis, Diabetic cardiomyopathy, Fabry disease, Mental retardation, x-linked, syndromic, bain type and 7 more	kidney development GO · q=6.67e-7
Cluster 110	12	Adie pupil, Autosomal dominant centronuclear myopathy, Congenital deformity of clavicle, Congenital deformity of elbow, Congenital deformity of forearm and 7 more	myelination GO · q=1.22e-6
Cluster 111	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=2.54e-20
Cluster 112	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=2.54e-13
Cluster 113	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=1.04e-3
Cluster 114	12	Constipation, Diabetes insipidus, Eye pain, Facial nerve disorder, Facial palsy, congenital, with ptosis and velopharyngeal dysfunction and 7 more	Hormone signaling Pathway · q=5.16e-7
Cluster 115	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=7.68e-18
Cluster 116	12	Angiokeratoma, Blepharophimosis-ptosis-epicanthus inversus syndrome, Brain cancer, Brain neoplasms, Colon dysplasia and 7 more	Non-small cell lung cancer Pathway · q=1.66e-10
Cluster 117	12	Anterior segment anomalies with or without cataract, Asymmetric crying face association, Bor syndrome, Branchiooculofacial syndrome, Branchiootic syndrome and 7 more	positive regulation of secondary heart field cardioblast proliferation GO · q=1.89e-4
Cluster 118	12	Carcinoid syndrome, Carney complex, Carney-stratakis syndrome, Cowden disease, Hereditary pheochromocytoma-paraganglioma and 7 more	mitochondrial electron transport, succinate to ubiquinone GO · q=7.01e-11
Cluster 119	12	Asplenia, Atrial septal defect 7, with or without av conduction defects, Congenital asplenia, Congenital septal defect of heart, Congenital-onset steinert myotonic dystrophy and 7 more	endocardial cushion development GO · q=1.00e-5
Cluster 120	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=3.49e-4
Cluster 121	12	Breast-ovarian cancer, familial, susceptibility to, 4, Cancer predisposition, Fallopian tube serous adenocarcinoma, Familial ovarian cancer, Fanconi anemia complementation group j and 7 more	DNA repair GO · q=6.21e-29
Cluster 122	12	Diffuse melanocytosis, Intradermal nevus, Lobular capilliary hemangioma, Mediastinum angiosarcoma, Melanocytic naevi and 7 more	Thyroid cancer Pathway · q=2.24e-7
Cluster 123	11	17q12 microdeletion syndrome, Bilateral multicystic dysplastic kidney, Cholestasis, Deafness, autosomal dominant 80, Giant cell tumor of tendon sheath and 6 more	paramesonephric duct development GO · q=2.50e-6
Cluster 124	11	Bachmann-bupp syndrome, Bladder papillary urothelial carcinoma, Dysplastic nevus, Epidermal nevus, Infiltrating bladder urothelial carcinoma sarcomatoid variant and 6 more	Non-small cell lung cancer Pathway · q=3.38e-19
Cluster 125	11	Alazami syndrome, Dwarfism, Ear, patella, short stature syndrome, Meier-gorlin syndrome, Meier-gorlin syndrome 2 and 6 more	DNA replication GO · q=1.63e-20
Cluster 126	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=4.68e-9
Cluster 127	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=3.97e-8
Cluster 128	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=4.89e-5
Cluster 129	11	Congenital insensitivity to pain, Congenital pain insensitivity, Episodic pain syndrome, Erythromelalgia, Hereditary sensory and autonomic neuropathy and 6 more	sensory perception of pain GO · q=2.62e-8
Cluster 130	11	Aica-ribosiduria, Bladder inflammatory myofibroblastic tumor, Cap myopathy, Congenital generalized hypercontractile muscle stiffness syndrome, Congenital myopathy 4a, autosomal dominant and 6 more	Longevity regulating pathway Pathway · q=9.77e-7
Cluster 131	11	Anastomosing hemangioma, Benign blood vessel neoplasm, Capillary malformation, Congenital hemangioma, Cutis marmorata telangiectatica congenita and 6 more	GnRH secretion Pathway · q=1.57e-6
Cluster 132	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=8.53e-5
Cluster 133	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=4.43e-31
Cluster 134	11	Arterial occlusive disease, Asthenozoospermia, Brain edema, Cardiac injury, Cholesterol embolism and 6 more	response to hypoxia GO · q=5.48e-5
Cluster 135	11	Body weight, Diabetes mellitus, Diabetic eye disease, Diabetic nephropathy type 2, Diabetic neuropathy and 6 more	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction GO · q=3.32e-11
Cluster 136	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=1.75e-4
Cluster 137	11	Asphyxiating thoracic dystrophy 5, Biliary-renal-neuro-skeletal syndrome, Caroli disease, Craniodiaphyseal dysplasia, Cranioectodermal dysplasia and 6 more	intraciliary retrograde transport GO · q=2.28e-13
Cluster 138	11	Aplasia/hypoplasia of the corpus callosum, Cataract with late-onset corneal dystrohpy, Cataract-corneal dystrophy syndrome, Congenital aniridia, Foveal hypoplasia and 6 more	podocyte differentiation GO · q=8.17e-4
Cluster 139	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=1.27e-18
Cluster 140	11	Blepharophimosis syndrome, Blepharophimosis-intellectual disability syndrome, Genitopatellar syndrome, KAT6B-related disorders, Multiple congenital anomalies and 6 more	positive regulation of DNA-templated transcription GO · q=1.50e-4
Cluster 141	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=6.38e-24
Cluster 142	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=7.68e-6
Cluster 143	11	Congenital hypothyroidism due to absence of thyroid gland, Congenital hypothyroidism non-goitrous type 2, Familial gestational hyperthyroidism, Hypothyroidism, congenital, non-goitrous, 1, Mayer-rokitansky-k?ºster-hauser syndrome (mrkhs) and 6 more	thyroid-stimulating hormone signaling pathway GO · q=5.68e-5
Cluster 144	11	Colorectal cancer, hereditary nonpolyposis, type 4, Constitutional mismatch repair deficiency, Cystic leukoencephalopathy, Hereditary nonpolyposis colon cancer, Lynch syndrome and 6 more	Colorectal cancer Pathway · q=1.81e-14
Cluster 145	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=7.08e-6
Cluster 146	11	Cerebral venous sinus thrombosis, Congenital factor v deficiency, Diabetes macrovascular complications, East texas bleeding disorder, Factor v deficiency and 6 more	blood coagulation GO · q=2.26e-5
Cluster 147	11	Ciliary dyskinesia, primary, 44, Deafness, autosomal dominant 73, Deafness, autosomal recessive 100, Deafness, autosomal recessive 107, Deafness, autosomal recessive 28 and 6 more	sensory perception of sound GO · q=1.03e-2
Cluster 148	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=2.07e-8
Cluster 149	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=4.57e-4
Cluster 150	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=9.47e-4
Cluster 151	10	Bell's palsy, Charcot-Marie-Tooth disease axonal type 2CC, Conjunctival disease, Giant axonal neuropathy, Lathosterolosis and 5 more	Antifolate resistance Pathway · q=1.28e-8
Cluster 152	10	Abnormality of limbs, Abnormality of the ear, Abnormality of the genitourinary system, Abnormality of the vertebrae, Abnormality of vision and 5 more	positive regulation of transcription elongation by RNA polymerase II GO · q=4.91e-3
Cluster 153	10	Amyotrophic lateral sclerosis type 18, Autosomal recessive osteopetrosis 5, Bone disease, Bone fracture, Dupuytren contracture and 5 more	skeletal system development GO · q=1.33e-13
Cluster 154	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=1.47e-7
Cluster 155	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=8.82e-10
Cluster 156	10	Acromesomelic dysplasia, Epiphyseal chondrodysplasia, miura type, Familial focal epilepsy with variable foci, Focal epilepsy, Premature ovarian insufficiency and 5 more	chondrocyte differentiation GO · q=4.84e-4
Cluster 157	10	Acroosteolysis, Calcifications in basal ganglia, Familial infantile myofibromatosis, Hypereosinophilic syndrome, Kosaki overgrowth syndrome and 5 more	Pathways in cancer Pathway · q=2.06e-5
Cluster 158	10	Alcoholic hepatitis, Angina pectoris, Autoimmune uveitis, Cachexia, Chondromalacia and 5 more	Interleukin-4 and Interleukin-13 signaling Pathway · q=1.07e-12
Cluster 159	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=4.75e-4
Cluster 160	10	Deafness-enamel hypoplasia-nail defects syndrome, Dilated cardiomyopathy 2B, Heimler syndrome, Heimler syndrome 1, Heimler syndrome 2 (includes amelogenesis imperfecta) and 5 more	Peroxisomal protein import Pathway · q=2.65e-11
Cluster 161	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=2.57e-10
Cluster 162	10	Corticosterone methyloxidase deficiency, Cushing syndrome, Familial hypoaldosteronism, Glucocorticoid-remediable aldosteronism, Hyperaldosteronism and 5 more	Cushing syndrome Pathway · q=3.45e-10
Cluster 163	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=1.73e-4
Cluster 164	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=5.65e-7
Cluster 165	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=9.55e-5
Cluster 166	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=5.29e-5
Cluster 167	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=2.25e-8
Cluster 168	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=2.74e-11
Cluster 169	10	Angioedema, hereditary, types i and ii, C1 esterase inhibitor deficiency, C4b deficiency, C6 deficiency, C7 deficiency and 5 more	complement activation, GZMK pathway GO · q=1.77e-26
Cluster 170	10	Anophthalmia, Anophthalmia/microphthalmia-esophageal atresia syndrome, Colobomatous microphthalmia, Congenital cystic eyeball, Isolated microphthalmia 6 and 5 more	camera-type eye development GO · q=5.80e-26
Cluster 171	10	Anti-glomerular basement membrane disease, Autoimmune hemolytic anemia, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Berylliosis, Enteropathy and 5 more	Rheumatoid arthritis Pathway · q=1.27e-8
Cluster 172	10	B-cell lymphopenia, Digit abnormalities, Hyperpituitarism, Hypocellular bone marrow, Hypogammaglobulinemia and 5 more	response to estrogen GO · q=9.86e-4
Cluster 173	10	Bernard-soulier syndrome, Cerebral thrombosis, Hereditary von Willebrand disease, Intracranial thrombosis, Platelet-type bleeding disorder 8 and 5 more	blood coagulation GO · q=6.68e-16
Cluster 174	10	Asbestosis, Bronchopulmonary dysplasia, Chronic obstructive pulmonary disease, Cystic fibrosis, Immunodeficiency 97 with autoinflammation and 5 more	inflammatory response GO · q=1.19e-24
Cluster 175	10	Cardiofaciocutaneous syndrome, Congenital arteriovenous malformation, Costello syndrome, Fibromatosis, gingival, 1, Leopard syndrome and 5 more	Ras signaling pathway Pathway · q=2.80e-18
Cluster 176	10	Bone marrow failure, Fanconi anemia, Fanconi anemia complementation group e, Fanconi anemia complementation group f, Fanconi anemia complementation group g and 5 more	Fanconi anemia pathway Pathway · q=7.45e-28
Cluster 177	10	Arteriovenous hemangioma, Blue rubber bleb nevus syndrome, Bockenheimer syndrome, Congenital venous anomaly, Glomulovenous malformations and 5 more	Tie2 Signaling Pathway · q=1.62e-5
Cluster 178	10	Blood vessel neoplasm, Conjunctival nevus, Familial multiple nevi flammei, Hemangioma of choroid, Malignant myoepithelioma and 5 more	Hepatocellular carcinoma Pathway · q=1.17e-5
Cluster 179	10	Arthralgia, Bone marrow neoplasms, Exanthema, Hyper-igd syndrome, Hyper-immunoglobulin d syndrome and 5 more	isoprenoid biosynthetic process GO · q=9.25e-4
Cluster 180	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=1.45e-5
Cluster 181	10	Autoimmune lymphoproliferative disorder, Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2B, Caspase 8 deficiency and 5 more	FasL/ CD95L signaling Pathway · q=8.92e-9
Cluster 182	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=4.06e-3
Cluster 183	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=3.27e-3
Cluster 184	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=6.04e-5
Cluster 185	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=2.08e-13
Cluster 186	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=2.77e-21
Cluster 187	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=3.25e-3
Cluster 188	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=7.73e-4
Cluster 189	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=9.24e-3
Cluster 190	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=2.85e-15
Cluster 191	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=4.28e-4
Cluster 192	9	17p11.2 microduplication syndrome, Birt-hogg-dube syndrome, Carcinoma of parotid gland, Omphalocele exstrophy imperforate anus, Pneumothorax and 4 more	negative regulation of glial cell proliferation GO · q=1.99e-5
Cluster 193	9	Cleft lip, Cleft lip and palate, Cleft palate, Complete unilateral cleft lip, Craniosynostosis and 4 more	skeletal system development GO · q=8.34e-16
Cluster 194	9	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 4 more	lung morphogenesis GO · q=7.05e-3
Cluster 195	9	Brachyphalangy, polydactyly and tibial aplasia syndrome, Brain injuries, Brain ischemia, Candidiasis, familial, 5, Colitis and 4 more	inflammatory response GO · q=1.33e-32
Cluster 196	9	Alkuraya-kucinskas syndrome, Brain atrophy, dandy walker and contractures, 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 and 4 more	kidney development GO · q=9.52e-19
Cluster 197	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=1.50e-17
Cluster 198	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=3.57e-3
Cluster 199	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=5.31e-3
Cluster 200	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=6.88e-12
Cluster 201	9	Anemia, congenital, non-spherocytic hemolytic, 5, Carbohydrate metabolism disease, Hexokinase deficiency, Intestinal disaccharide malabsorption, Neurodevelopmental disorder with visual defects and brain anomalies and 4 more	glucose 6-phosphate metabolic process GO · q=1.27e-4
Cluster 202	9	Central areolar choroidal dystrophy, Choroidal dystrophy, Choroidal sclerosis, Choroideremia, Cone dystrophy 3 and 4 more	visual perception GO · q=2.24e-13
Cluster 203	9	Brown oculocutaneous albinism, Congenital nystagmus, Eye neoplasms, Oculocutaneous albinism, Oculocutaneous albinism type 2 and 4 more	melanin biosynthetic process GO · q=2.43e-13
Cluster 204	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=9.52e-4
Cluster 205	9	Crohn disease, Ehrlich tumor carcinoma, Inflammatory bowel disease, Multiple sclerosis, Neurodevelopmental disorder with microcephaly and congenital malformations and 4 more	immune response GO · q=2.50e-33
Cluster 206	9	Angiofibroma, Appendix neuroendocrine tumor g1, Desmoid tumor, Desmoplastic fibroma, Intestinal neoplasms and 4 more	Endometrial cancer Pathway · q=5.80e-15
Cluster 207	9	Adrenocortical carcinoma, Bile duct neoplasms, Diffuse midline glioma, Esophageal leukoplakia, Hepatoid adenocarcinoma and 4 more	Endometrial cancer Pathway · q=3.13e-8
Cluster 208	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=2.55e-3
Cluster 209	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=1.11e-3
Cluster 210	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=1.45e-6
Cluster 211	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=6.17e-6
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=4.56e-12
Cluster 213	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=1.99e-7
Cluster 214	9	Alexander disease, Arylsulfatase a deficiency, Metachromatic leukodystrophy, Mucopolysaccharidosis type 6, Mucopolysaccharidosis type vi (maroteaux-lamy) and 4 more	Glycosphingolipid metabolism Pathway · q=1.47e-4
Cluster 215	9	Cervical disc degenerative disorder, Gouty arthritis, Hyperuricemia, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Intellectual developmental disorder, autosomal dominant 76 and 4 more	AGE-RAGE signaling pathway in diabetic complications Pathway · q=9.32e-8
Cluster 216	9	Borjeson-forssman-lehmann syndrome, Cerebrofaciothoracic dysplasia, Congenital fusion of ribs, Congenital hypoplasia of penis, Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome and 4 more	skeletal system development GO · q=2.18e-3
Cluster 217	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=7.04e-3
Cluster 218	9	Androgen insensitivity syndrome, Bladder clear cell adenocarcinoma, Bulbo-spinal atrophy, x-linked, Hypospadias 1, x-linked, Kennedy disease and 4 more	mitotic intra-S DNA damage checkpoint signaling GO · q=7.92e-4
Cluster 219	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=1.07e-12
Cluster 220	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=2.45e-18
Cluster 221	9	Cerebellar vermis atrophy, Cerebral arteriovenous malformations, Epistaxis, Hereditary hemorrhagic telangiectasia, Intracranial arteriovenous malformation and 4 more	positive regulation of peptidyl-serine phosphorylation GO · q=3.11e-6
Cluster 222	9	Brachycephaly, Coronal craniosynostosis, Craniofacial dysostosis, Hypogonadotropic hypogonadism 26 with or without anosmia, Lacrimo-auriculo-dento-digital syndrome (ladd) and 4 more	PI3K Cascade Pathway · q=3.91e-6
Cluster 223	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=6.25e-3
Cluster 224	9	Arthrogryposis with oculomotor limitation and retinal anomalies, Arthrogryposis, distal, with impaired proprioception and touch, Basal cell nevus syndrome, Duplication of pituitary gland, Gorlin syndrome and 4 more	Hedgehog signaling pathway Pathway · q=8.78e-5
Cluster 225	9	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 4 more	adenylate cyclase-activating G protein-coupled receptor signaling pathway GO · q=2.62e-3
Cluster 226	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=2.88e-3
Cluster 227	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=2.66e-3
Cluster 228	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=3.32e-5
Cluster 229	9	Craniofaciosynostosis, Encephalocraniocutaneous lipomatosis, Hartsfield syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia and 4 more	Melanoma Pathway · q=1.56e-7
Cluster 230	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=1.68e-4
Cluster 231	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=3.25e-3
Cluster 232	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=1.50e-10
Cluster 233	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=1.97e-14
Cluster 234	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=3.49e-4
Cluster 235	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=2.70e-3
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=2.94e-7
Cluster 237	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=3.94e-4
Cluster 238	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=1.30e-4
Cluster 239	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=1.38e-8
Cluster 240	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=8.10e-4
Cluster 241	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=1.46e-4
Cluster 242	8	16q24.3 microdeletion syndrome, Astigmatism, Congenital retrognathism, Dyschromatopsia, Kbg syndrome and 3 more	vitamin D metabolic process GO · q=2.77e-7
Cluster 243	8	Adrenal gland neoplasms, Chromosome 2p16.3 deletion syndrome, Corneal edema, Cortical dysplasia-focal epilepsy syndrome, Internet addiction disorder and 3 more	adult behavior GO · q=4.28e-7
Cluster 244	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=7.54e-12
Cluster 245	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=1.18e-7
Cluster 246	8	5-oxoprolinuria, Anemia, congenital, non-spherocytic hemolytic, 6, Enzyme disorder, Glutathione synthetase deficiency without 5-oxoprolinuria, Inherited glutathione synthetase deficiency and 3 more	DNA replication-dependent chromatin assembly GO · q=9.42e-4
Cluster 247	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=1.18e-3
Cluster 248	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=1.77e-3
Cluster 249	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=1.06e-2
Cluster 250	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=7.04e-3
Cluster 251	8	Abnormality of the face, Behavioral abnormality, Intellectual developmental disorder with short stature, facial anomalies, and speech delay, Morphological abnormality of the central nervous system, Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities and 3 more	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO · q=1.81e-3
Cluster 252	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=7.81e-3
Cluster 253	8	Benign paroxysmal torticollis of infancy, Epilepsy with myoclonic atonic seizures, Epileptic encephalopathy, early infantile, 6 (dravet syndrome), Familial hemiplegic migraine, Febrile seizures, familial, 3a and 3 more	transport across blood-brain barrier GO · q=7.29e-4
Cluster 254	8	Aceruloplasminemia, Apoceruloplasmin deficiency, Ferroxidase deficiency, Hemochromatosis type 4, Hemosiderosis and 3 more	Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) Pathway · q=2.60e-6
Cluster 255	8	Achondrogenesis, Atelosteogenesis, Atelosteogenesis ii (includes clefting), De la chapelle dysplasia, Diastrophic dysplasia and 3 more	Collagen chain trimerization Pathway · q=3.22e-3
Cluster 256	8	Atrophia bulborum heritaria, Coats disease, Exudative retinopathy, Exudative vitreoretinopathy, Exudative vitreoretinopathy 2, x-linked and 3 more	Norrin signaling pathway GO · q=2.47e-9
Cluster 257	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=8.57e-4
Cluster 258	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=1.25e-18
Cluster 259	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=3.98e-9
Cluster 260	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=3.55e-4
Cluster 261	8	Agammaglobulinemia, Agammaglobulinemia 2, autosomal recessive, Agammaglobulinemia 3, autosomal recessive, Agammaglobulinemia 4, autosomal recessive, Autosomal agammaglobulinemia and 3 more	B cell differentiation GO · q=1.46e-12
Cluster 262	8	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, autosomal dominant, Short stature spectrum, Spondyloepimetaphyseal dysplasia, Spondyloepimetaphyseal dysplasia with joint laxity, type 3 and 3 more	ECM proteoglycans Pathway · q=2.32e-5
Cluster 263	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=1.00e-9
Cluster 264	8	Becker muscular dystrophy, Benign congenital myopathy, Blepharoptosis, Clinodactyly, Duchenne muscular dystrophy and 3 more	Hedgehog 'off' state Pathway · q=3.00e-5
Cluster 265	8	Bone neoplasms, Cerebrovascular trauma, Combined hyperlipidemia, familial, Connective tissue neoplasm, Coronary syndrome and 3 more	embryo implantation GO · q=2.68e-3
Cluster 266	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=4.00e-3
Cluster 267	8	Anonychia, Bent bone dysplasia, Campomelic dysplasia, Campomelic dysplasia with autosomal sex reversal, Cooks syndrome and 3 more	prostate gland morphogenesis GO · q=7.55e-5
Cluster 268	8	Developmental delay with immunodeficiency syndrome, Endocrine system disease, Growth retardation, Hepatic insufficiency, Hepatomegaly and 3 more	intracellular receptor signaling pathway GO · q=3.24e-8
Cluster 269	8	Bullous pyoderma gangrenosum, Colchicine resistance, Familial mediterranean fever, Intermittent hydrarthrosis, Neutrophilic dermatosis, acute febrile and 3 more	G protein-coupled opioid receptor signaling pathway GO · q=3.54e-4
Cluster 270	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=1.10e-3
Cluster 271	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=1.23e-3
Cluster 272	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=1.38e-8
Cluster 273	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=5.31e-3
Cluster 274	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=3.00e-4
Cluster 275	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=9.05e-12
Cluster 276	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=2.43e-4
Cluster 277	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=2.59e-6
Cluster 278	8	Biliary atresia, Central hypoventilation syndrome, Congenital central hypoventilation syndrome, Haddad syndrome, Hirschsprung disease and 3 more	neural crest cell migration GO · q=1.34e-12
Cluster 279	8	Bleeding disorder, Ehlers-danlos syndrome due to tenascin x deficiency, Ehlers-Danlos syndrome, classic type, Fibromuscular dysplasia, multifocal, Hermansky-pudlak syndrome 1 and 3 more	ECM proteoglycans Pathway · q=5.24e-6
Cluster 280	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=5.41e-3
Cluster 281	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=8.02e-9
Cluster 282	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=7.93e-7
Cluster 283	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=7.28e-4
Cluster 284	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=1.42e-2
Cluster 285	8	Benign infantile epilepsy, Benign neonatal epilepsy, Benign neonatal-infantile seizures, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, early infantile, 11 and 3 more	monoatomic ion transport GO · q=6.12e-8
Cluster 286	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=1.10e-3
Cluster 287	8	Congenital sensory neuropathy, Congenital sensory neuropathy with selective loss of small myelinated fibers, Corneal ulcer, Cyp2d6 deficiency, Periapical periodontitis and 3 more	nerve growth factor signaling pathway GO · q=5.12e-7
Cluster 288	8	Heritable pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary hypertension and 3 more	vasodilation GO · q=5.30e-13
Cluster 289	8	Brachydactyly, type b1, autosomal dominant, Duane retraction syndrome 2, Robinow syndrome, Robinow syndrome, autosomal dominant 2, Robinow syndrome, autosomal dominant 3 and 3 more	Wnt signaling pathway GO · q=6.81e-10
Cluster 290	8	Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder, Colpocephaly, Familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps and 3 more	renal tubule morphogenesis GO · q=8.53e-3
Cluster 291	8	Bullous diffuse cutaneous mastocytosis, Embryonal carcinoma, Gingivitis, Hodgkin disease, Mastocytoma and 3 more	Lipid and atherosclerosis Pathway · q=2.24e-6
Cluster 292	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=3.34e-21
Cluster 293	8	Cerebral embolism, Hypercalciuria, Hypercalciuria absorptive 2, Idiopathic infantile hypercalcemia, Infertility and 3 more	Parathyroid hormone synthesis, secretion and action Pathway · q=1.95e-5
Cluster 294	8	Carbamoyl phosphate synthetase deficiency, Congenital hyperammonemia, Congenital hypoplastic anemia, Developmental and epileptic encephalopathy, 50, Hypoplastic anemia and 3 more	'de novo' pyrimidine nucleobase biosynthetic process GO · q=6.59e-9
Cluster 295	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=3.46e-16
Cluster 296	8	Cleft eyelid, Coloboma, Coloboma, ocular, autosomal recessive, Congenital iris coloboma, Congenital ocular coloboma and 3 more	camera-type eye development GO · q=2.70e-8
Cluster 297	8	Childhood-onset dystonia, Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities, Coffin-lowry syndrome, Complex early-onset dystonia, Complex neurodevelopmental disorder with motor features and 3 more	ERBB signaling pathway GO · q=4.22e-4
Cluster 298	8	Chudley-mccullough syndrome, Elliptocytosis 1, Elliptocytosis 3, Hereditary elliptocytosis, Neonatal anemia and 3 more	'de novo' UMP biosynthetic process GO · q=1.10e-7
Cluster 299	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=1.32e-5
Cluster 300	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=2.84e-3
Cluster 301	8	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, Developmental and epileptic encephalopathy, 80 and 3 more	GPI anchor biosynthetic process GO · q=1.55e-20
Cluster 302	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=3.25e-3
Cluster 303	8	Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 3, Lymphedema, hereditary, ic, Pelizaeus-merzbacher disease, Spastic paraplegia 13, autosomal dominant and 3 more	central nervous system myelination GO · q=7.22e-4
Cluster 304	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=1.18e-3
Cluster 305	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=8.08e-3
Cluster 306	7	Haim-munk syndrome, Paganini-miozzo syndrome, Papillon-lefevre syndrome, Periodontal disease, Periodontitis and 2 more	Arrhythmogenic right ventricular cardiomyopathy Pathway · q=4.67e-4
Cluster 307	7	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, Mucopolysaccharidosis, Mucopolysaccharidosis type 3A, Mucopolysaccharidosis type 3D, Mucopolysaccharidosis type iiia (sanfilippo a) and 2 more	Glycosaminoglycan degradation Pathway · q=6.36e-24
Cluster 308	7	3-hydroxyisobutyric aciduria, Bladder calculus, Helix syndrome, Nephrolithiasis, Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis and 2 more	phospholipase C-activating G protein-coupled receptor signaling pathway GO · q=2.83e-5
Cluster 309	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=8.24e-4
Cluster 310	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=6.42e-6
Cluster 311	7	3p- syndrome (includes intellectual disability), Caveolinopathy, Chromosome 3p25 monosomy, Creatine phosphokinase elevation, Hyperckmia and 2 more	regulation of calcium ion transport GO · q=2.04e-5
Cluster 312	7	46xy sex reversal 3, Adrenal insufficiency, Autoimmunity, Disorder of sex development, Immunodeficiency 126, susceptibility to and 2 more	luteinization GO · q=6.89e-4
Cluster 313	7	Biliary cholangitis, Biliary cirrhosis, Inner ear disease, Liver cirrhosis, Liver disease and 2 more	immune response GO · q=7.51e-21
Cluster 314	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=7.81e-3
Cluster 315	7	Abnormal heart morphology, Abnormality of the urinary system, Complex neurodevelopmental disorder with or without congenital anomalies, Deafness, autosomal dominant, 75, Developmental delay with or without dysmorphic facies and autism and 2 more	negative regulation of transcription regulatory region DNA binding GO · q=1.06e-2
Cluster 316	7	Abnormality of movement, Axial hypotonia, Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia and 2 more	Presynaptic depolarization and calcium channel opening Pathway · q=5.02e-4
Cluster 317	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=5.24e-3
Cluster 318	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=1.82e-2
Cluster 319	7	Acatalasemia, Anterior cruciate ligament injury, Aortic disease, Bonnevie-ullrich syndrome, Hyperemia and 2 more	Detoxification of Reactive Oxygen Species Pathway · q=3.73e-6
Cluster 320	7	Cystic fibrosis-related diabetes, Intestinal obstruction, Intestinal pseudo-obstruction, Patent ductus arteriosus, Speech disorder and 2 more	blood vessel diameter maintenance GO · q=8.72e-5
Cluster 321	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=3.26e-3
Cluster 322	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=1.68e-7
Cluster 323	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=6.42e-7
Cluster 324	7	Acromegaloid facial appearance syndrome, Cantu syndrome, Dilated cardiomyopathy 1O, Hypertrichosis, Hypertrichotic osteochondrodysplasia Cantu type and 2 more	ATP sensitive Potassium channels Pathway · q=7.00e-7
Cluster 325	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=1.61e-3
Cluster 326	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=5.54e-7
Cluster 327	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=6.36e-24
Cluster 328	7	Blindness, Epileptic encephalopathy, early infantile, 38, Hereditary spastic paraplegia 11, Microphthalmia with cataracts and iris abnormalities, Microphthalmia, isolated 2 and 2 more	visual perception GO · q=6.57e-9
Cluster 329	7	Coach syndrome, Congenital hemivertebra, Congenital hypoplasia of femur, Ficus syndrome, Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis and 2 more	cilium assembly GO · q=1.00e-5
Cluster 330	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=1.99e-5
Cluster 331	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=1.45e-4
Cluster 332	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=3.62e-7
Cluster 333	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=7.61e-14
Cluster 334	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=4.73e-14
Cluster 335	7	Alzahrani-kuwahara syndrome, Desanto-shinawi syndrome, Dysmorphism, lens dislocation, anterior segment abnormalities, and filtering blebs, Facial dysmorphism syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome and 2 more	ventral midline development GO · q=1.89e-4
Cluster 336	7	Anaphylaxis, Bladder disease, Congenital high-molecular-weight kininogen deficiency, Extravasation of diagnostic and therapeutic materials, Hyperesthesia and 2 more	inflammatory response GO · q=8.36e-9
Cluster 337	7	Atrial and intestinal dysrhythmia, Chronobiology disorder, Hyperoxia, Patent ductus venosus, Pruritus and 2 more	Neuroactive ligand-receptor interaction Pathway · q=2.64e-6
Cluster 338	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=2.21e-10
Cluster 339	7	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, Paget disease of bone 3 and 2 more	Osteoclast differentiation Pathway · q=7.55e-4
Cluster 340	7	Deafness, autosomal dominant 37, Fibrochondrogenesis, Fibrochondrogenesis 1, Intervertebral disc displacement, Mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) and 2 more	succinyl-CoA pathway GO · q=1.18e-2
Cluster 341	7	Aneurysmal bone cyst, Malignant triton tumor, Pleural sarcomatoid mesothelioma, Pleural solitary fibrous tumor, Plexiform neurofibroma and 2 more	Non-small cell lung cancer Pathway · q=1.21e-5
Cluster 342	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=3.81e-6
Cluster 343	7	Anorexia, Congestive ophthalmopathy, Graft-versus-host disease, Granulomatosis with polyangiitis, Graves ophthalmopathy and 2 more	immune response GO · q=6.78e-15
Cluster 344	7	Antisocial behavior, Antisocial personality disorder, Brunner syndrome, Dysthymic disorder, Hepatic encephalopathy and 2 more	Neuroactive ligand-receptor interaction Pathway · q=1.24e-5
Cluster 345	7	Anodontia, Craniofacial dysplasia - osteopenia syndrome, Frontonasal dysplasia, Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome, Hamamy syndrome and 2 more	embryonic skeletal system morphogenesis GO · q=2.06e-6
Cluster 346	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=4.32e-4
Cluster 347	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=6.25e-3
Cluster 348	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=6.11e-7
Cluster 349	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=4.65e-6
Cluster 350	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=7.43e-22
Cluster 351	7	Ciliary dyskinesia, primary, 41, Immunodeficiency, common variable, 12, Nasal disorder, Nasal polyp, Pharyngeal disorder and 2 more	Inflammatory bowel disease Pathway · q=3.79e-11
Cluster 352	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=1.46e-9
Cluster 353	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=3.50e-7
Cluster 354	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=2.53e-4
Cluster 355	7	Auricle malformation, Diamond-blackfan anemia 6, Erythroid hypoplasia, Hypoplastic thumb, Ovarian agenesis and 2 more	metanephric S-shaped body morphogenesis GO · q=3.60e-4
Cluster 356	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=1.13e-2
Cluster 357	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=3.37e-23
Cluster 358	7	Bilateral generalized polymicrogyria, Intellectual disability, autosomal dominant 8, Microcephalic primordial dwarfism, Microcephaly with or without short stature, Microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature and 2 more	centriole replication GO · q=5.21e-4
Cluster 359	7	Benign hypercalcemia, Familial isolated hyperparathyroidism, Hypocalcemia, autosomal dominant 1, Hypocalcemia, autosomal dominant, (with bartter syndrome), Hypocalciuric hypercalcemia and 2 more	Parathyroid hormone synthesis, secretion and action Pathway · q=1.35e-5
Cluster 360	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=5.79e-6
Cluster 361	7	Brain small vessel disease, Cerebral small vessel disease, Congenital porencephaly, Intracerebral hemorrhage, Porencephaly 2 and 2 more	menaquinone catabolic process GO · q=9.25e-4
Cluster 362	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=1.42e-2
Cluster 363	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=1.26e-3
Cluster 364	7	Central nervous system disease, Choroidal neovascularization, Diabetes microvascular complications, Erythrocytosis, familial, 5, Esophageal stenosis and 2 more	intrinsic apoptotic signaling pathway in response to DNA damage GO · q=3.05e-6
Cluster 365	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=1.50e-6
Cluster 366	7	Breast ductal adenoma, Breast fibrosis, Fanconi anemia complementation group D2, Intraductal breast papilloma, Overgrowth syndrome and 2 more	Endocrine resistance Pathway · q=9.15e-14
Cluster 367	7	Deafness, autosomal recessive, Erythrokeratoderma, Erythrokeratodermia variabilis, Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 2 and 2 more	Gap junction assembly Pathway · q=1.62e-5
Cluster 368	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=2.18e-4
Cluster 369	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=2.24e-4
Cluster 370	7	Codas syndrome, Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, Encephalopathy due to mitochondrial and peroxisomal fission defect, Fatal encephalopathy, lactic acidosis, and severe mitochondrial dna depletion in muscle, Mitochondrial encephalomyopathy and 2 more	Respiratory electron transport Pathway · q=1.57e-4
Cluster 371	7	Congenital digestive system anomaly, Ectodermal dysplasia 17 with or without limb malformations, H syndrome, Histiocytosis-lymphadenopathy plus syndrome, Multiple endocrine neoplasia type 2A and 2 more	Thyroid cancer Pathway · q=1.04e-7
Cluster 372	7	Congenital malrotation of intestine, Desmosterolosis, Hydrops fetalis, Lymphatic malformation, Mucopolysaccharidosis type 7 and 2 more	Tie2 Signaling Pathway · q=1.63e-4
Cluster 373	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=7.52e-3
Cluster 374	7	Chloracne, Heinz body anemias, Hemoglobin m disease, Methemoglobinemia, Rapid progression to aids from hiv1 infection and 2 more	carbon dioxide transport GO · q=8.82e-9
Cluster 375	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=6.92e-3
Cluster 376	7	Familial hypercholesterolemia, Gallbladder disease, Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, familial, 1, Ldl cholesterol level qtl2 and 2 more	intestinal cholesterol absorption GO · q=2.96e-6
Cluster 377	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=3.32e-6
Cluster 378	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=1.71e-3
Cluster 379	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=5.02e-3
Cluster 380	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=4.34e-3
Cluster 381	7	Early-onset epilepsy, Epileptic encephalopathy, early infantile, 56, Mental retardation, autosomal dominant 13, Neuronal migration abnormalities, Severe intellectual disability with neuronal migration disorder and 2 more	Loss of Nlp from mitotic centrosomes Pathway · q=7.94e-4
Cluster 382	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=4.99e-22
Cluster 383	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=2.30e-4
Cluster 384	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=1.09e-5
Cluster 385	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=9.24e-3
Cluster 386	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=1.62e-6
Cluster 387	6	19p13.3 microduplication syndrome, Bainbridge-ropers syndrome, Malan syndrome, Marshall-smith syndrome, Sotos syndrome and 1 more	GPVI-mediated activation cascade Pathway · q=3.35e-3
Cluster 388	6	1p21.3 microdeletion syndrome, Anal polyp, Dihydropyrimidinase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine metabolism disorder and 1 more	uracil catabolic process GO · q=1.89e-5
Cluster 389	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=5.74e-3
Cluster 390	6	Chromosome 22q11.2 microduplication syndrome, Common arterial trunk with aortic dominance, Common arterial trunk with pulmonary dominance and interrupted aortic arch, Conotruncal anomaly face syndrome, Conotruncal heart malformations and 1 more	outflow tract septum morphogenesis GO · q=2.00e-7
Cluster 391	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=7.96e-7
Cluster 392	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=9.58e-6
Cluster 393	6	Congenital diaphragmatic hernia, Diaphragmatic hernia 5, x-linked, Diaphragmatic malformations, Osteoporosis with fractures, Vesicoureteral reflux and 1 more	metanephros development GO · q=1.50e-5
Cluster 394	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=1.30e-5
Cluster 395	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=3.91e-3
Cluster 396	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=9.25e-4
Cluster 397	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=5.31e-3
Cluster 398	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=4.78e-8
Cluster 399	6	Abnormality of finger, Abnormality of the thumb, Lamb-shaffer syndrome, Spastic tetraplegia, Spondylosis and 1 more	positive regulation of chondrocyte differentiation GO · q=5.81e-4
Cluster 400	6	Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system, Craniofacial neurological cardiovascular and skeletal features (turnpenny-fry syndrome), Turnpenny-fry syndrome and 1 more	negative regulation of type B pancreatic cell apoptotic process GO · q=3.98e-4
Cluster 401	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=4.79e-15
Cluster 402	6	Anemia, congenital, non-spherocytic hemolytic, 2, Gaucher disease, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Hereditary parkinson disease, Pyruvate kinase deficiency and 1 more	adult locomotory behavior GO · q=6.23e-7
Cluster 403	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=5.79e-9
Cluster 404	6	Dowling degos disease, Dowling-degos disease 1, Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex 2e, with migratory circinate erythema, Epidermolysis bullosa simplex 2f, with mottled pigmentation and 1 more	Type I hemidesmosome assembly Pathway · q=2.08e-6
Cluster 405	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=3.25e-3
Cluster 406	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=5.70e-5
Cluster 407	6	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, Gastric mantle cell lymphoma and 1 more	animal organ regeneration GO · q=9.80e-4
Cluster 408	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=2.21e-4
Cluster 409	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=2.22e-8
Cluster 410	6	Adrenoleukodystrophy, Arthrogryposis multiplex congenita 3, myogenic type, Autosomal recessive ataxia, Peroxisome biogenesis disorder, Refsum disease and 1 more	peroxisome organization GO · q=7.53e-32
Cluster 411	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=4.88e-3
Cluster 412	6	Congenital disorder of glycosylation type 1r, Epileptic encephalopathy, early infantile, 49, Fructose-1,6-bisphosphatase deficiency, Galactokinase deficiency, Glucocorticoid receptor deficiency/resistance and 1 more	regulation of gluconeogenesis GO · q=1.62e-2
Cluster 413	6	Cerebrovascular disorder, Peripheral arterial disease, Peripheral vascular disease, Small vessel stroke, Stroke and 1 more	positive regulation of gene expression GO · q=3.20e-7
Cluster 414	6	Cerebral creatine deficiency syndrome, Creatine deficiency, Creatine transporter deficiency, Gamt deficiency, Guanidinoacetate methyltransferase deficiency and 1 more	creatine metabolic process GO · q=1.55e-9
Cluster 415	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=6.25e-3
Cluster 416	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=3.81e-7
Cluster 417	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=1.72e-4
Cluster 418	6	Autosomal recessive mental retardation, Li-campeau syndrome, Mental retardation, autosomal recessive 27, Mental retardation, autosomal recessive 39, Neurodevelopmental disorder with progressive movement abnormalities and 1 more	positive regulation of smoothened signaling pathway GO · q=1.27e-2
Cluster 419	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=1.52e-6
Cluster 420	6	Arhinia-choanal atresia-microphthalmia syndrome, Bosma arhinia microphthalmia syndrome, Chediak-higashi syndrome, Facioscapulohumeral muscular dystrophy, Fascioscapulohumeral muscular dystrophy 2, digenic and 1 more	dosage compensation by inactivation of X chromosome GO · q=2.57e-4
Cluster 421	6	Hypotrichosis, Hypotrichosis 6, Hypotrichosis simplex, Woolly hair, Woolly hair autosomal recessive 2 and 1 more	Formation of the cornified envelope Pathway · q=7.16e-5
Cluster 422	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=9.24e-3
Cluster 423	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=2.17e-5
Cluster 424	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=5.92e-11
Cluster 425	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=9.25e-17
Cluster 426	6	Macular telangiectasia, Neu-laxova syndrome, Neurometabolic disorder, Phosphoserine phosphatase deficiency, Spastic paraplegia 77, autosomal recessive and 1 more	L-serine biosynthetic process GO · q=2.91e-6
Cluster 427	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=1.15e-4
Cluster 428	6	Autosomal recessive osteopetrosis 2, Bone resorption, Hypercalcemia, Osteolysis, Otosclerosis and 1 more	ossification GO · q=1.50e-13
Cluster 429	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=1.83e-5
Cluster 430	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=3.94e-8
Cluster 431	6	Autoimmune pancreatitis, Autosomal recessive osteopetrosis 3, Carbonic anhydrase deficiency, Cholangitis, Hyperammonemic encephalopathy and 1 more	positive regulation of hormone biosynthetic process GO · q=1.55e-4
Cluster 432	6	Anemia, sideroblastic, 3, pyridoxine-refractory, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, Linear skin defects with multiple congenital anomalies 3, Pyridoxine refractory sideroblastic anemia 3, Sideroblastic anemia and 1 more	iron-sulfur cluster assembly GO · q=3.68e-7
Cluster 433	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=1.66e-7
Cluster 434	6	Ectodermal dysplasia 3, witkop type, Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, Tooth agenesis, selective, 1, Tooth and nail syndrome, Witkop syndrome and 1 more	odontogenesis GO · q=3.10e-3
Cluster 435	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=1.39e-12
Cluster 436	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=1.42e-5
Cluster 437	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=2.04e-4
Cluster 438	6	Encephalocele, Epileptic encephalopathy, early infantile, 18, Infantile encephalopathy with epilepsy and dysmorphic corpus callosum, Joubert syndrome 17, Meckel syndrome 1 and 1 more	cell projection organization GO · q=1.09e-5
Cluster 439	6	Asperger syndrome, Behavior disorders, Epileptic encephalopathy with global cerebral demyelination, Epileptic encephalopathy, early infantile, 39, Fatigue syndrome and 1 more	positive regulation of cell-matrix adhesion GO · q=8.41e-3
Cluster 440	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=4.15e-8
Cluster 441	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=7.81e-3
Cluster 442	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=4.00e-3
Cluster 443	6	Congenital microvillous atrophy, Diarrhea 12, with microvillus atrophy, Diarrhea 2, with microvillus atrophy, Intestinal disease, Intestinal dysmotility syndrome and 1 more	positive regulation of interleukin-8 production GO · q=1.13e-3
Cluster 444	6	Graves disease, Hashimoto disease, Hyperthyroidism, Okt4 epitope deficiency, Thyroid disease and 1 more	Autoimmune thyroid disease Pathway · q=5.53e-23
Cluster 445	6	Charcot-Marie-Tooth disease type 2A2, Deafness, autosomal recessive 124, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, Multiple symmetric lipomatosis with partial lipodystrophy, Multiple system atrophy and 1 more	Elastic fibre formation Pathway · q=1.10e-2
Cluster 446	6	Cerebellar ataxia, impaired intellectual development, and dysequilibrium, Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Dysequilibrium syndrome, Hydrocephalus, congenital, 3, with brain anomalies, Lissencephaly 6, with microcephaly and 1 more	involuntary skeletal muscle contraction GO · q=8.53e-3
Cluster 447	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=4.28e-12
Cluster 448	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=1.11e-5
Cluster 449	6	Autosomal dominant hypophosphatasia, Autosomal recessive hypophosphatasia, Childhood hypophosphatasia, Hypophosphatasia, Micromelia and 1 more	response to lipopolysaccharide GO · q=2.47e-3
Cluster 450	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=1.28e-6
Cluster 451	6	Autosomal recessive spinocerebellar ataxia 2, Cerebelloparenchymal disorder, Normal pressure hydrocephalus, Ptosis, Spermatogenic failure 19 and 1 more	establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis GO · q=9.24e-3
Cluster 452	6	Cerebral sinovenous thrombosis, Congenital factor ii deficiency, Congenital prothrombin deficiency, Hemophilia b, Pregnancy loss, recurrent, 2 and 1 more	hemostasis GO · q=2.14e-8
Cluster 453	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=3.19e-3
Cluster 454	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=6.53e-5
Cluster 455	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=1.55e-2
Cluster 456	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=1.27e-4
Cluster 457	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=2.01e-9
Cluster 458	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=2.08e-7
Cluster 459	6	Benign smooth muscle neoplasm, Cervical carcinosarcoma, Conjunctival telangiectasis, Primary peritoneal serous adenocarcinoma, Rauch-steindl syndrome and 1 more	double-strand break repair GO · q=2.54e-6
Cluster 460	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=5.84e-8
Cluster 461	6	Congenital contracture, Epileptic encephalopathy, early infantile, 69, Macrocephaly, Snijders blok-campeau syndrome, Van den ende-gupta syndrome and 1 more	regulation of myeloid cell apoptotic process GO · q=1.18e-2
Cluster 462	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=6.59e-9
Cluster 463	6	Chagas cardiomyopathy, Cousin syndrome, Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature (cousin syndrome), Neurodevelopmental disorder with language delay and seizures, Obstructive sleep apnea syndrome and 1 more	negative regulation of type B pancreatic cell apoptotic process GO · q=8.66e-3
Cluster 464	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=6.37e-3
Cluster 465	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=7.04e-3
Cluster 466	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=4.34e-3
Cluster 467	6	Caffey disease, Combined osteogenesis imperfecta and ehlers-danlos syndrome , Cortical congenital hyperostosis, Ehlers-danlos syndrome, cardiac valvular type, Maternal hypertension and 1 more	Platelet Aggregation (Plug Formation) Pathway · q=8.57e-5
Cluster 468	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=6.25e-3
Cluster 469	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=7.04e-3
Cluster 470	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=1.92e-4
Cluster 471	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=3.93e-8
Cluster 472	6	Cardiac malformation syndrome, Congenital heart disease with or without pancreatic agenesis or neonatal diabetes, Pancreatic agenesis, diaphragmatic hernia, and congenital heart defects, Pancreatic beta-cell agenesis with neonatal diabetes mellitus, Partial pancreatic agenesis and 1 more	pancreas development GO · q=2.52e-8
Cluster 473	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=3.00e-4
Cluster 474	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=6.25e-3
Cluster 475	6	Dc type 4 and 5, Dyskeratosis congenita, autosomal dominant 4, Dyskeratosis congenita, autosomal recessive 5, Dyskeratosiscongenita, autosomal dominant 4, Telomere syndrome and 1 more	Telomere Extension By Telomerase Pathway · q=8.96e-9
Cluster 476	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=1.85e-7
Cluster 477	6	Caudal regression syndrome, Currarino syndrome, Neural tube defects, susceptibility to, Sacral defect, Skeletal ciliopathy and 1 more	establishment of planar polarity GO · q=8.74e-9
Cluster 478	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=7.04e-3
Cluster 479	6	Cda iii, Congenital dyserythropoietic anemia, Glutaric aciduria 1, Glutaricacidemia, Glutaryl-CoA dehydrogenase deficiency and 1 more	erythrocyte differentiation GO · q=3.90e-4
Cluster 480	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=1.69e-8
Cluster 481	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=3.56e-10
Cluster 482	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=2.83e-3
Cluster 483	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=7.94e-15
Cluster 484	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=7.04e-3
Cluster 485	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=5.30e-5
Cluster 486	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=3.25e-3
Cluster 487	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=1.03e-3
Cluster 488	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=1.94e-3
Cluster 489	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=4.51e-4
Cluster 490	6	Colorectal cancer susceptibility, Mandibular hypoplasia-deafness-progeroid syndrome, Non-severe combined immunodeficiency due to polymerase delta deficiency, Paraquat lung disease, Polyposis and colorectal cancer syndrome and 1 more	PCNA-Dependent Long Patch Base Excision Repair Pathway · q=8.44e-6
Cluster 491	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=3.25e-3
Cluster 492	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=1.89e-5
Cluster 493	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=1.68e-4
Cluster 494	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=5.46e-5
Cluster 495	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=5.79e-3
Cluster 496	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=3.56e-10
Cluster 497	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=7.04e-3
Cluster 498	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=8.56e-5
Cluster 499	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=3.54e-4
Cluster 500	6	Dedifferentiated solitary fibrous tumor, Hemangiopericytoma, Hyper-immunoglobulin e syndrome 6, autosomal dominant, with recurrent infections, Meninges hemangiopericytoma, Peritoneal solitary fibrous tumor and 1 more	isotype switching to IgE isotypes GO · q=3.69e-5
Cluster 501	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=1.99e-5
Cluster 502	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=3.11e-10
Cluster 503	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=1.50e-3
Cluster 504	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=1.94e-3
Cluster 505	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=8.04e-13
Cluster 506	6	Familial ventricular tachycardia, Gingival diseases, Hyaline fibromatosis, Hypertrichosis, congenital generalised, with gingival hyperplasia, Retractile testis and 1 more	Rap1 signaling pathway Pathway · q=1.95e-4
Cluster 507	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=1.86e-4
Cluster 508	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=8.31e-3
Cluster 509	6	Glutaric acidemia iib, Glutaric acidemia iic, Glutaric aciduria, Glutaric aciduria 2b, Glutaric aciduria 2c and 1 more	fatty acid beta-oxidation using acyl-CoA dehydrogenase GO · q=4.43e-8
Cluster 510	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=8.59e-4
Cluster 511	5	Conductive hearing loss, Deafness autosomal dominant type 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2, Weissenbacher-zweymueller syndrome	sensory perception of sound GO · q=3.81e-4
Cluster 512	5	46,xy disorder of sex development, Disorders of sex development, Familial male precocious puberty, Luteinizing hormone resistance, Testotoxicosis	Steroid hormone biosynthesis Pathway · q=6.89e-12
Cluster 513	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=2.51e-2
Cluster 514	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=1.55e-2
Cluster 515	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=3.70e-6
Cluster 516	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=2.79e-5
Cluster 517	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=1.11e-2
Cluster 518	5	Dystonia, Dystonia 37, early-onset, with striatal lesions, Dystonia musculorum deformans, Focal dystonia, Genetic torsion dystonia	tetrahydrobiopterin biosynthetic process GO · q=3.43e-6
Cluster 519	5	3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia, Iron-refractory iron deficiency anemia, Majeed syndrome, Microcytic anemia	multicellular organismal-level iron ion homeostasis GO · q=1.33e-3
Cluster 520	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=1.26e-5
Cluster 521	5	6-pyruvoyltetrahydropterin synthase deficiency, Hyperphenylalaninemia, Phenylalanine hydroxylase deficiency, Phenylketonuria, Tetrahydrobiopterin-responsive phenylketonuria	Folate biosynthesis Pathway · q=2.79e-6
Cluster 522	5	Familial partial lipodystrophy, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Lipodystrophy, Lipodystrophy syndrome with neurological features, Partial lipodystrophy	Regulation of lipolysis in adipocytes Pathway · q=3.55e-6
Cluster 523	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=1.33e-2
Cluster 524	5	Absence of fingerprints-congenital milia syndrome, Adermatoglyphia, Basan syndrome, Huriez syndrome, Palmoplantar keratoderma	morphogenesis of an epithelium GO · q=2.44e-3
Cluster 525	5	Alacrima, achalasia, and intellectual disability syndrome, Glucocorticoid deficiency with achalasia, Intellectual developmental disorder movement cerebellar, Intellectual disability with strabismus syndrome, Triple a syndrome	negative regulation of phosphate metabolic process GO · q=6.25e-3
Cluster 526	5	Acid-base disorder, Amed syndrome, Blepharitis, Respiratory system neoplasm, Wernicke-korsakoff syndrome	Ethanol oxidation Pathway · q=3.77e-6
Cluster 527	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=1.20e-3
Cluster 528	5	Coproporphyria, Harderoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Porphyria cutanea tarda	porphyrin-containing compound metabolic process GO · q=2.57e-7
Cluster 529	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=6.58e-5
Cluster 530	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=1.25e-2
Cluster 531	5	Agammaglobulinemia and isolated hormone deficiency, Bruton type agammaglobulinemia, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked hypogammaglobulinemia	regulation of B cell cytokine production GO · q=3.25e-3
Cluster 532	5	Aland island eye disease, Ciliary dyskinesia with retinitis pigmentosa, Cone dystrophy, x-linked, Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness, X-linked cone-rod dystrophy	visual perception GO · q=1.20e-4
Cluster 533	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=2.71e-9
Cluster 534	5	Alkylglycerone-phosphate synthase deficiency, Chondrodysplasia, Chondrodysplasia with joint dislocations, gpapp type, Glyceronephosphate O-acyltransferase deficiency, Rhizomelic chondrodysplasia punctata	ether lipid biosynthetic process GO · q=6.10e-6
Cluster 535	5	Carasil syndrome, Cerebral microangiopathy, Cognitive impairment, Degenerative disc disease, Psychiatric disturbance	renal tubule morphogenesis GO · q=1.33e-2
Cluster 536	5	Alport syndrome 2, autosomal recessive, Benign familial pemphigus, Diffuse mesangial sclerosis, Hailey-hailey disease, Hematuria, benign familial, 1	Laminin interactions Pathway · q=4.26e-4
Cluster 537	5	Bile acid malabsorption, Cognition disorder, Delirium, dementia, and cognitive disorders, Diabetes complications, Parkinson disease 6, early onset	negative regulation of gene expression GO · q=1.62e-9
Cluster 538	5	Amenorrhea, Hypogonadotropic hypogonadism 24 with or without anosmia, Hypogonadotropic hypogonadism 24 without anosmia, Isolated follicle-stimulating hormone deficiency, Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	Ovarian steroidogenesis Pathway · q=1.93e-5
Cluster 539	5	Antley-bixler syndrome, Antley-bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia, Disordered steroidogenesis due to cytochrome p450 oxidoreductase, P450 oxidoreductase deficiency	steroid biosynthetic process GO · q=5.19e-12
Cluster 540	5	Congenital stenosis of aortic valve, Familial hypobetalipoproteinemia 1, Hypercholesterolemia, autosomal dominant, type B, Hypobetalipoproteinemia, Hypobetalipoproteinemia, familial, 2	Cholesterol metabolism Pathway · q=9.12e-5
Cluster 541	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=5.80e-5
Cluster 542	5	Amyloidosis, hereditary systemic 6, Beta2-microglobulinic amyloidosis, Hypergammaglobulinemia, Hypoproteinemia, hypercatabolic, Immunodeficiency by defective expression of hla class 1	negative regulation of iron ion transport GO · q=1.94e-3
Cluster 543	5	Distal axonal motor neuropathy-myofibrillar myopathy syndrome, Distal muscular dystrophy, Distal myopathy, Distal myopathy with vocal cord weakness, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	Cytoskeleton in muscle cells Pathway · q=7.79e-5
Cluster 544	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=4.34e-3
Cluster 545	5	Analbuminemia, Anuria, Blood protein disorder, Congenital analbuminemia, Dysalbuminemic hyperthyroxinemia	positive regulation of epidermal growth factor receptor signaling pathway GO · q=4.80e-4
Cluster 546	5	Anemia, sideroblastic, 2, pyridoxine-refractory, Erythropoietic protoporphyria, Pyridoxine refractory sideroblastic anemia 2, X-linked erythropoietic protoporphyria, X-linked sideroblastic anemia	ERBB2-EGFR signaling pathway GO · q=8.40e-7
Cluster 547	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=2.18e-4
Cluster 548	5	Angiofollicular ganglionic hyperplasia, Angiolymphoid hyperplasia, Castleman disease, Congenital microtia, Headache	response to prostaglandin E GO · q=7.12e-4
Cluster 549	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=1.87e-3
Cluster 550	5	Autosomal recessive polycystic kidney disease, Congenital hypoplasia of aortic arch, Cystathionine beta-synthase deficiency, Periportal fibrosis, Ventricular hypertrophy	branching morphogenesis of an epithelial tube GO · q=1.40e-3
Cluster 551	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=3.48e-5
Cluster 552	5	Antithrombin deficiency, Bronchiolitis, Diffuse panbronchiolitis, Interstitial lung disease 2, Interstitial systitis	IL-17 signaling pathway Pathway · q=8.71e-4
Cluster 553	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=2.32e-5
Cluster 554	5	Barrett esophagus, Camptodactyly, Esophageal disease, Esophageal ulcer, Hypomagnesemia 5, renal, with ocular involvement	positive regulation of gene expression GO · q=9.25e-7
Cluster 555	5	Apnea, Butyrylcholinesterase deficiency, Paresis, Periodic fever, menstrual cycle-dependent, Trismus	Defective SLC6A5 causes hyperekplexia 3 (HKPX3) Pathway · q=4.88e-3
Cluster 556	5	Apocrine adenocarcinoma, Cervical adenosarcoma, Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism, familial primary, Parathyroid neoplasm	Prostate cancer Pathway · q=3.94e-11
Cluster 557	5	Congenital hypothyroidism, Congenital hypothyroidism without goiter, Congenital thyroid atrophy, Testicular disease, Thyroid agenesis	thyroid gland development GO · q=1.64e-11
Cluster 558	5	Apraxia, Cataplexy, Developmental delay with variable intellectual disability, Niemann-pick disease type c1, Ophthalmoplegia	negative regulation of neuron remodeling GO · q=1.11e-2
Cluster 559	5	Arima syndrome, Joubert syndrome 14, Joubert syndrome with oculorenal defect, Meckel syndrome 2, Meckel syndrome type 4	cell projection organization GO · q=5.37e-9
Cluster 560	5	Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 4C, Congenital hemihypertrophy, Congenital joint contractures, Mononeuropathy of the median nerve, mild	PI3K/AKT activation Pathway · q=6.73e-4
Cluster 561	5	Arthrogryposis with ectodermal dysplasia, Auditory neuropathy, autosomal recessive, 1, Deafness, autosomal recessive 9, Hearing loss, autosomal recessive 116, Pendred syndrome	sensory perception of sound GO · q=2.13e-5
Cluster 562	5	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, Epithelial ovarian carcinoma, Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, Severe neurodevelopmental disease with seizures	Chemical carcinogenesis - receptor activation Pathway · q=2.50e-4
Cluster 563	5	Childhood cancer retinoblastoma, Diffuse hemispheric glioma, h3 g34-mutant, Mixed neuronal-glial tumor, Testicular granulosa cell tumor, Undifferentiated high grade pleomorphic sarcoma of bone	Melanoma Pathway · q=2.14e-11
Cluster 564	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=3.22e-3
Cluster 565	5	Erythematosquamous dermatosis, Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, Pityriasis rubra pilaris, Sebaceous gland disease, Seborrheic dermatitis	melanin biosynthetic process GO · q=3.17e-4
Cluster 566	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=2.40e-4
Cluster 567	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=3.01e-4
Cluster 568	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=9.09e-3
Cluster 569	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=9.24e-3
Cluster 570	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=5.32e-10
Cluster 571	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=1.94e-3
Cluster 572	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=3.34e-3
Cluster 573	5	Autoimmune neurological syndrome, Delta-sarcoglycan-related limb-girdle muscular dystrophy r6, Dilated cardiomyopathy 1L, Epileptic encephalopathy, early infantile, 47, Salivary gland disease	late endosome to vacuole transport via multivesicular body sorting pathway GO · q=2.23e-3
Cluster 574	5	Familial isolated hypoparathyroidism, Hyperparathyroidism, Hypoparathyroidism, Hypoparathyroidism, familial isolated, 1, Hypoparathyroidism, familial isolated, 2	Parathyroid hormone synthesis, secretion and action Pathway · q=1.57e-6
Cluster 575	5	Immunodeficiency-centromeric instability-facial anomalies syndrome, Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Kabuki syndrome	chromatin organization GO · q=1.81e-5
Cluster 576	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=3.25e-3
Cluster 577	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=4.34e-3
Cluster 578	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=4.34e-3
Cluster 579	5	Autosomal recessive spinocerebellar ataxia 18, Chondromyxoid fibroma, Congenital cerebellar ataxia, Spinocerebellar ataxia, autosomal recessive 13, Temporal lobe epilepsy	Neuroactive ligand-receptor interaction Pathway · q=2.30e-13
Cluster 580	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=1.30e-5
Cluster 581	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=1.11e-3
Cluster 582	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=1.97e-5
Cluster 583	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=2.44e-4
Cluster 584	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=1.22e-5
Cluster 585	5	Berardinelli-seip congenital lipodystrophy, Carotid intima-media thickness, Congenital generalized lipodystrophy, Generalized lipodystrophy, Intellectual developmental disorder speech ambulation	positive regulation of cholesterol efflux GO · q=2.42e-3
Cluster 586	5	Cleft mandible, Microtia, Richieri costa pereira syndrome, Robin sequence, Robin sequence with cleft mandible and limb anomalies	olfactory nerve development GO · q=1.99e-5
Cluster 587	5	Bleeding esophageal varices, Esophageal and gastric varices, Esophageal varices, Sweat gland disease, Vipoma	lipid homeostasis GO · q=4.66e-3
Cluster 588	5	Blomstrand lethal chondrodysplasia, Eiken skeletal dysplasia, Eiken syndrome, Primary failure of tooth eruption, Rickets	Parathyroid hormone synthesis, secretion and action Pathway · q=6.47e-6
Cluster 589	5	Brooke-spiegler syndrome, Familial cylindromatosis, Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, Multiple familial trichoepithelioma, Trichoblastoma	Thyroid cancer Pathway · q=6.79e-4
Cluster 590	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=2.52e-3
Cluster 591	5	Brain stem astrocytic neoplasm, Fibrodysplasia ossificans progressiva, Optic tract astrocytoma, Retina neoplasm, Retinitis pigmentosa 86	gastrulation GO · q=1.06e-3
Cluster 592	5	Carbohydrate deficient glycoprotein syndrome, Coronary aneurysm, Dock2 deficiency, Mental retardation, autosomal recessive 15, Rafiq syndrome	prepulse inhibition GO · q=6.31e-3
Cluster 593	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=6.25e-3
Cluster 594	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=1.24e-4
Cluster 595	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=9.24e-3
Cluster 596	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=1.94e-3
Cluster 597	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=1.30e-5
Cluster 598	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=1.02e-3
Cluster 599	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=1.94e-3
Cluster 600	5	Cerebellar cortical atrophy, Elejalde syndrome, Griscelli syndrome, Griscelli syndrome type 1, Griscelli syndrome type 2	melanosome transport GO · q=3.17e-7
Cluster 601	5	Gastroschisis, Huntington disease, Lenz-majewski hyperostotic dwarfism, Salt-sensitive hypertension, Ventriculomegaly	cellular response to hydrogen peroxide GO · q=6.49e-7
Cluster 602	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=9.88e-3
Cluster 603	5	Cholesteatoma, Intellectual developmental disorder, autosomal dominant 41, Intellectual disability with autism spectrum disorder, Mental retardation, autosomal dominant 41, Pierpont syndrome	response to tacrolimus GO · q=9.88e-3
Cluster 604	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=1.11e-2
Cluster 605	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=2.17e-10
Cluster 606	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=2.89e-4
Cluster 607	5	Commissural facial cleft, Facial clefting, oblique, 1, Opitz gbbb syndrome, Opitz gbbb syndrome, type ii, Tessier facial cleft	cell fate determination GO · q=6.71e-4
Cluster 608	5	Lissencephaly 2 (norman-roberts type), Lissencephaly with cerebellar hypoplasia, Roberts syndrome, Sacroiliac arthritis, Sacroiliac joint synovitis	layer formation in cerebral cortex GO · q=1.89e-4
Cluster 609	5	Cochlear diseases, Deafness, autosomal recessive 23, Navajo neurohepatopathy, Pain insensitivity, Usher syndrome, type1d/f digenic	inner ear development GO · q=2.66e-3
Cluster 610	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=3.41e-2
Cluster 611	5	Colonic disease, Growth hormone insensitivity syndrome, Growth hormone insensitivity syndrome with immune dysregulation, Growth hormone insensitivity, partial, Increased responsiveness to growth hormone	positive regulation of multicellular organism growth GO · q=3.50e-6
Cluster 612	5	Facial dysmorphism, immunodeficiency, livedo, and short stature, Fils syndrome, Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency, Xeroderma pigmentosum group F, Xfe progeroid syndrome	Dual Incision in GG-NER Pathway · q=3.24e-4
Cluster 613	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=1.13e-2
Cluster 614	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=4.75e-6
Cluster 615	5	Hyper-immunoglobulin e recurrent infection syndrome 5, autosomal recessive, Immunodeficiency 53, Immunodeficiency, common variable, 5, Interleukin 6 quantitative trait, Recurrent infections	response to cytokine GO · q=7.75e-5
Cluster 616	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=3.37e-7
Cluster 617	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=2.60e-6
Cluster 618	5	Combined psap deficiency, Combined saposin deficiency, Gaucher disease due to saposin C deficiency, Krabbe disease, Krabbe disease due to saposin A deficiency	Glycosphingolipid metabolism Pathway · q=9.70e-4
Cluster 619	5	Complex hereditary spastic paraplegia, Spastic paraplegia 26, autosomal recessive, Spastic paraplegia 45, autosomal recessive, Spastic paraplegia 46, autosomal recessive, Spastic paraplegia 75, autosomal recessive	Glycosphingolipid metabolism Pathway · q=5.58e-3
Cluster 620	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=5.31e-3
Cluster 621	5	Congenital heart defect, intellectual disability, facial dysmorphism syndrome, Intellectual developmental disorder dysmorphic facial, Intellectual developmental disorder, autosomal dominant 23, Intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency, Mental retardation, autosomal dominant 23	positive regulation of transcription elongation by RNA polymerase II GO · q=1.97e-3
Cluster 622	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=7.04e-3
Cluster 623	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=3.25e-3
Cluster 624	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=3.25e-3
Cluster 625	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=8.69e-8
Cluster 626	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=2.23e-3
Cluster 627	5	Cryohydrocytosis, Distal renal tubular acidosis, Ovalocytosis, sa type cryohydrocytosis, Ovalocytosis, southeast asian, Spherocytoisis type 4	Collecting duct acid secretion Pathway · q=5.85e-7
Cluster 628	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=1.64e-6
Cluster 629	5	Deafness, autosomal dominant, 78, Delpire-mcneill syndrome, Intestinal malrotation, Kilquist syndrome, Lymphatic system disease	positive regulation of cell volume GO · q=3.25e-3
Cluster 630	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=3.56e-5
Cluster 631	5	Episodic ataxia, Infancy-onset recurrent metabolic crises with encephalocardiomyopathy, Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Spinocerebellar ataxia 27b, late-onset	Phase 0 - rapid depolarisation Pathway · q=1.30e-4
Cluster 632	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=1.94e-3
Cluster 633	5	Hypomagnesemia 6, renal, Hypomagnesemia, seizures, and intellectual disability 1, Magnesium metabolism disorder, Renal hypomagnesemia 4, Tetany	magnesium ion transmembrane transport GO · q=1.17e-6
Cluster 634	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=4.34e-3
Cluster 635	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=1.94e-3
Cluster 636	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=1.13e-4
Cluster 637	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=3.25e-3
Cluster 638	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=3.25e-3
Cluster 639	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=2.01e-3
Cluster 640	5	Mandibuloacral dysostosis, Mandibuloacral dysplasia, Obsolete lethal restrictive dermopathy, Restrictive dermopathy, Tight skin contracture syndrome	nuclear envelope organization GO · q=5.21e-4
Cluster 641	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=3.76e-3
Cluster 642	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=1.28e-2
Cluster 643	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=1.42e-2
Cluster 644	5	Thrombocytopenia 2, Thrombocytopenia 4, Thrombocytopenia 7, Thrombocytopenia with normal platelets, Thrombocytopenia, reduced platelet alpha granules	female meiosis II GO · q=9.88e-3

644 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?