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Entry Name Description Category Pathway Gene
H00011 Lymphoplasmacytic lymphoma ... The t(9;14)(p13;q32) is present in near 50% of cases of LPL. This chromosomal translocation involves a junction between 9p13 and the switch micro region of the Ig heavy chain locus on 14q32. The 9p13 breakpoint ... Cancer Pax5-IgH (translocation) [HSA:5079] [KO:K09383]
H00047 Gallbladder cancer ... second, less frequent pathway is associated with a congenital abnormality of the pancreatic bile-duct junction, which is particularly common in Japan. TP53 inactivation has an important and early role in ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
K-ras (mutation) [HSA:3845] [KO:K07827]
APC (mutation) [HSA:324] [KO:K02085]
H00081 Hashimoto thyroiditis ... are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility ... Immune system disease CTLA4 [HSA:1493] [KO:K06538]
H00082 Graves disease ... are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility ... Immune system disease
H00301 Klebsiella infection ... bacilli containing these plasmids are multidrug-resistant. Klebsiella pneumoniae can cause sepsis, conjunctivitis, urinary tract infections, and surgical site infections. Bloodstream infections with Klebsiella ... Bacterial infectious disease
H00304 Haemophilus influenzae infection ... cellulitis, osteomyelitis, and epiglottitis. Mucosal infections, such as bronchitis, sinusitis and conjunctivitis, and otitis media, can also be caused by Hib, but they are considered to be noninvasive disease Bacterial infectious disease
H00321 Campylobacter infection
Campylobacteriosis 		Campylobacter infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals ... Bacterial infectious disease
H00349 Trachoma ... worldwide. Infections with serovars A, B, Ba, and C of Chlamydia trachomatis cause chronic keratoconjunctivitis in children with subsequent scarring and blindness in adults. Today, trachoma is largely ... Bacterial infectious disease
H00371 Adenovirus infection ... recruits, and immunocompromised individuals, Ad infections often result in disseminated and potentially life-threatening disease. Ocular Ad infections are among the leading causes of viral conjunctivitis. Viral infectious disease
H00374 Viral wart ... papulosis, epidermodysplasia verruciformis, and laryngeal papillomas. Other lesions reported to be HPV-associated are squamous papilloma, verruca vulgaris, warty lip lesions, and conjunctival papillomas. Viral infectious disease
H00393 Enterovirus infection
Non-polio enterovirus infection 		... family Picornaviridae of +ssRNA viruses. Most non-polio enterovirus infections are mild, but some of them can cause hand, foot and mouth disease, viral conjunctivitis, viral meningitis and other diseases. Viral infectious disease
H00449 Oculodentodigital dysplasia ... facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene. Congenital malformation GJA1 [HSA:2697] [KO:K07372]
H00553 Congenital supravalvular aortic stenosis ... ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene. Congenital malformation ELN [HSA:2006] [KO:K14211]
H00586 Epidermolysis bullosa, junctional ... is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by blister formation within the lamina ... Congenital malformation (JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244]
(JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240]
(JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246]
(JEB4) COL17A1 [HSA:1308] [KO:K07603]
(JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525]
(JEB6) ITGA6 [HSA:3655] [KO:K06485]
(JEB7) ITGA3 [HSA:3675] [KO:K06482]
H00647 Ectodermal dysplasia-syndactyly syndrome ... abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions. Congenital malformation NECTIN4 [HSA:81607] [KO:K06593]
H00648 Ectodermal dysplasia, Clouston type
Clouston syndrome 		... total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels. Congenital malformation GJB6 [HSA:10804] [KO:K07625]
H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) 		... cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal ... Congenital malformation CLDN1 [HSA:9076] [KO:K06087]
H00770 Congenital myasthenic syndrome ... heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively ... Nervous system disease (CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803]
(CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812]
(CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816]
(CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817]
(CMS5) COLQ [HSA:8292] [KO:K26586]
(CMS6) CHAT [HSA:1103] [KO:K00623]
(CMS7A/7B) SYT2 [HSA:127833] [KO:K19902]
(CMS8) AGRN [HSA:375790] [KO:K06254]
(CMS9) MUSK [HSA:4593] [KO:K05129]
(CMS10) DOK7 [HSA:285489] [KO:K24038]
(CMS11) RAPSN [HSA:5913] [KO:K24924]
(CMS12) GFPT1 [HSA:2673] [KO:K00820]
(CMS13) DPAGT1 [HSA:1798] [KO:K01001]
(CMS14) ALG2 [HSA:85365] [KO:K03843]
(CMS15) ALG14 [HSA:199857] [KO:K07441]
(CMS16) SCN4A [HSA:6329] [KO:K04837]
(CMS17) LRP4 [HSA:4038] [KO:K20051]
(CMS18) SNAP25 [HSA:6616] [KO:K18211]
(CMS19) COL13A1 [HSA:1305] [KO:K16617]
(CMS20) SLC5A7 [HSA:60482] [KO:K14387]
(CMS21) SLC18A3 [HSA:6572] [KO:K14636]
(CMS22) PREPL [HSA:9581] [KO:K22582]
(CMS23) SLC25A1 [HSA:6576] [KO:K15100]
(CMS24) MYO9A [HSA:4649] [KO:K10360]
(CMS25) VAMP1 [HSA:6843] [KO:K08510]
H00813 Laryngo onycho cutaneous syndrome ... cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane Congenital malformation LAMA3 [HSA:3909] [KO:K06240]
H00848 Ataxia with ocular apraxia ... homozygous mutations in genes encoding a protein involved in DNA repair. Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency ... Nervous system disease (AOA1) APTX [HSA:54840] [KO:K10863]
(AOA2) SETX [HSA:23064] [KO:K10706]
(AOA3) PIK3R5 [HSA:23533] [KO:K21290]
(AOA4) PNKP [HSA:11284] [KO:K08073]
H00860 Benign hereditary chorea ... hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal ... Nervous system disease TTF1 [HSA:7270] [KO:K15225]
H00947 Pilomatricoma
Epithelioma calcificans of Malherbe 		Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic ... Neoplasm CTNNB1 [HSA:1499] [KO:K02105]
H01050 Tsukamurella infection ... They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis, tenosynovitis, prosthetic joint infections, cutaneous infections, tuberculosis-like ... Bacterial infectious disease
H01149 Ring dermoid of cornea ... dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. ... Neoplasm PITX2 [HSA:5308] [KO:K04686]
H01202 Cataract ... cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription ... Nervous system disease (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H01206 Plasminogen deficiency ... distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane disease. Ligneous conjunctivitis is the most common of the clinical syndromes associated with plasminogen deficiency, although ... Hematologic disease PLG [HSA:5340] [KO:K01315]
H01243 Huntington disease-like syndrome ... So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4). Neurodegenerative disease (HDL1) PRNP [HSA:5621] [KO:K05634]
(HDL2) JPH3 [HSA:57338] [KO:K19530]
(HDL4) TBP [HSA:6908] [KO:K03120]
H01286 Microtia hearing impairment and cleft palate ... shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has ... Congenital malformation HOXA2 [HSA:3199] [KO:K09302]
H01288 Mosaic variegated aneuploidy syndrome ... abnormalities and predisposition to cancer. MVA is due to defective cell division, leading to aberrant disjunction of chromosomes during mitosis. It has been reported that mutations of the BUB1B, CEP57, and ... Chromosomal abnormality (MVA1) BUB1B [HSA:701] [KO:K06637]
(MVA2) CEP57 [HSA:9702] [KO:K16762]
(MVA3) TRIP13 [HSA:9319] [KO:K22399]
(MVA4) CENATAC [HSA:338657] [KO:K26160]
(MVA7) MAD1L1 [HSA:8379] [KO:K06679]
H01301 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts ... calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome. Nervous system disease JAM3 [HSA:83700] [KO:K06785]
H01302 Hyperchlorhidrosis isolated (HCHLH) Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis isolated ... Inherited metabolic disorder CA12 [HSA:771] [KO:K01672]
H01320 Epidemic keratoconjunctivitis Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: ... Viral infectious disease
H01330 Brazilian purpuric fever ... influenzae biogroup aegyptius (H. aegyptius) and is often fatal. This disease is characterized by purulent conjunctivitis and subsequent acute onset of nausea, vomiting, hemorrhagic skin lesions, fever, prostration ... Bacterial infectious disease
H01366 Bacterial conjunctivitis Bacterial conjunctivitis is an infection caused by bacterial pathogens, such as Haemophilus influenza, Streptococcus pneumoniae and Moraxella catarrhalis. Most cases of conjunctivitis in adults are likely ... Bacterial infectious disease
H01420 Pharyngoconjunctival fever Pharyngoconjunctival fever (PCF) is a syndrome attributed to human adenovirus B, particularly serotype 3, which causes small outbreaks, mainly among children. The syndrome may occur sporadically and can ... Viral infectious disease
H01421 Acute hemorrhagic conjunctivitis Acute hemorrhagic conjunctivitis (AHC) is a highly contagious viral conjunctivitis first observed in 1969 in Ghana. Causative agents thus far identified are enterovirus 70 and coxsackievirus A24 variant ... Viral infectious disease
H01424 Group A streptococcal pharyngitis
Group A streptococcal tonsillitis
Group A streptococcal pharyngotonsillitis 		... headache, and particularly in younger children abdominal pain, nausea, and vomiting. Cough, coryza, and conjunctivitis are not typical symptoms of streptococcal pharyngitis, and, if present, they suggest an alternative ... Bacterial infectious disease
H01436 Guillain-Barre syndrome ... forms of GBS are caused by certain autoimmune mechanisms, due to a molecular mimicry between antecedent bacterial infection (particularly Campylobacter jejuni) and human peripheral nerve gangliosides. Nervous system disease PMP22 [HSA:5376] [KO:K19289]
H01445 Acne vulgaris ... Gram-positive bacterium that forms part of the normal flora of the skin, oral cavity, large intestine, the conjunctiva and the external ear canal. Although P. acnes is primarily recognized for its role in acne, ... Bacterial infectious disease
H01449 Excoriation disorder
Skin picking disorder 		... bilateral abnormalities in the anterior cingulate cortex and abnormalities on the left temporoparietal junction. Another study has shown deficits in motor inhibition, which appears to be correlated with frontal ... Mental and behavioural disorder
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