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Entry Name Description Category Pathway Gene
H00009 Adult T-cell leukemia ... such genetic changes were not frequently detected. In this regard, epigenetic change of p16/INK4A gene was more frequent in ATL cells, and accumulated according to the disease progression. This finding suggests ... Cancer; Viral infectious disease hsa05166 Human T-cell leukemia virus 1 infection p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621]
Fas (mutation) [HSA:355] [KO:K04390]
H00012 Polycythemia vera ... (SMD) and other rare disorders. Recently, a specific point mutation in the Janus kinase 2 (JAK2) gene was described in a majority of PV patients and thus constitutes a sensitive diagnostic marker for the ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		... increase in the production of Abeta peptides, specifically the more amyloidogenic form, Abeta42. It was proposed that Abeta forms Ca2+ permeable pores and binds to and modulates multiple synaptic proteins ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00090 NK cell defects A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the ... Primary immunodeficiency FCGR3A [HSA:2214] [KO:K06463]
H00094 Immunodeficiency associated with DNA repair defects ... blocked at lesions, thereby promoting chromosome stability. A point mutational change in DNA ligase I was identified in a unique immunodeficient individual who suffered recurrent sinopulmonary infection ... Primary immunodeficiency ATM [HSA:472] [KO:K04728]
MRE11A [HSA:4361] [KO:K10865]
NBS1(Nibrin) [HSA:4683] [KO:K10867]
LIG1 [HSA:3978] [KO:K10747]
LIG4 [HSA:3981] [KO:K10777]
BLM [HSA:641] [KO:K10901]
MCM4 [HSA:4173] [KO:K02212]
(LICS) NSMCE3 [HSA:56160] [KO:K22823]
H00095 Ectodermal dysplasia and immunodeficiency ... diseases. EDA-ID principally affects boys, suggesting X-linked recessive inheritance (XL-EDA-ID). This was confirmed in 2000 and beyond with the identification of disease-causing hypomorphic mutations in ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00100 Neutropenic disorders ... congenital neutropenia (SCN) have been reported with activating mutations in Wiskott-Aldrich syndrome protein (WASp) leading to a constitutively-active form of the protein, and unregulated actin polymerization. Primary immunodeficiency (SCN1) ELANE [HSA:1991] [KO:K01327]
(SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
(SCN3) HAX1 [HSA:10456] [KO:K16220]
(SCN4) G6PC3 [HSA:92579] [KO:K01084]
(SCN5) VPS45 [HSA:11311] [KO:K12479]
(SCN6) JAGN1 [HSA:84522] [KO:K25789]
(SCN7) CSF3R [HSA:1441] [KO:K05061]
(SCN8) SRP54 [HSA:6729] [KO:K03106]
(SCN9) CLPB [HSA:81570] [KO:K03695]
(SCN10) SRP68 [HSA:6730] [KO:K03107]
(SCN11) SEC61A1 [HSA:29927] [KO:K10956]
(SCNX) WAS [HSA:7454] [KO:K05747]
H00107 Other well-defined immunodeficiency syndromes Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00109 Familial hemophagocytic lymphohistiocytosis ... granule exocytosis. Recently a third FHPL associated gene on chromosome 6q24 with mutations in STX11 was identified. The encoded protein, t-SNARE syntaxin 11, also plays a role in intracellular trafficking ... Primary immunodeficiency (FHL2) PRF1 [HSA:5551] [KO:K07818]
(FHL3) UNC13D [HSA:201294] [KO:K19728]
(FHL4) STX11 [HSA:8676] [KO:K08487]
(FHL5) STXBP2 [HSA:6813] [KO:K15300]
(FHL6) RC3H1 [HSA:149041] [KO:K15690]
H00110 Cholera ... The last outbreak is dominated by an O1 variant named El Tor and has continued to the present. The O139 serogroup was first observed in 1992 in India and associated with epidemics in localized areas. Bacterial infectious disease hsa05110 Vibrio cholerae infection
H00144 Mucolipidosis IV ... Accumulation of lipids results from defects in membrane transport along the late endocytic pathway. It was found that MCOLN1 is required for efficient fusion of both late endosomes and autophagosomes with ... Inherited metabolic disorder, Lysosomal disease MCOLN1 [HSA:57192] [KO:K04992]
H00148 Lysosomal acid lipase deficiency ... abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL ... Inherited metabolic disorder, Lysosomal disease LIPA [HSA:3988] [KO:K01052]
H00150 Danon disease
X-linked vacuolar cardiomyopathy and myopathy 		... protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease). However, at present, ... Inherited metabolic disorder, Lysosomal disease LAMP2 [HSA:3920] [KO:K06528]
H00214 Hypophosphatemic rickets ... therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets. Inherited metabolic disorder (XLHR) PHEX [HSA:5251] [KO:K08636]
(XLRH) CLCN5 [HSA:1184] [KO:K05012]
(ADHR) FGF23 [HSA:8074] [KO:K22428]
(ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]
(HHRH) SLC34A3 [HSA:142680] [KO:K14683]
H00239 Bartter syndrome ... reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but ... Endocrine and metabolic disease (BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
(BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
(BARTS3) CLCNKB [HSA:1188] [KO:K05018]
(BARTS4A) BSND [HSA:7809] [KO:K19331]
(BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(BARTS5) MAGED2 [HSA:10916] [KO:K24127]
(HYPOC1) CASR [HSA:846] [KO:K04612]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... aldosterone molecular signaling. Primary pseudohypoaldosteronism type 1 (PHA1) is characterized by salt-wasting, hyperkalemia, and metabolic acidosis in the presence of markedly elevated plasma renin activity ... Urinary system disease (PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B1) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B2) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B3) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
H00266 Hereditary spastic paraplegia Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. Nervous system disease (SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WASHC5 [HSA:9897] [KO:K18464]
(SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPART [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) C19orf12 [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG70) MARS1 [HSA:4141] [KO:K01874]
(SPG72A/72B) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
(SPG87) TMEM63C [HSA:57156] [KO:K21989]
(SPG88) KPNA3 [HSA:3839] [KO:K23583]
(SPG89) AMFR [HSA:267] [KO:K10636]
(SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384]
(SPG91) SPTAN1 [HSA:6709] [KO:K06114]
H00278 Enteropathogenic Escherichia coli (EPEC) infection Enteropathogenic Escherichia coli (EPEC) was the first pathotype of E. coli identified in the 1940s, and remains a common cause of infantile diarrhea in developing countries. EPEC and EHEC [DS:H00277] ... Bacterial infectious disease hsa05130 Pathogenic Escherichia coli infection
H00283 Ebola disease
Ebola hemorrhagic fever 		... the family Filoviridae of -ssRNA viruses. Four ebolavirus are known to cause Ebola, and a related virus in Filoviridae causes Marburg disease. The first ebolavirus was discovered in 1976 in South Sudan. Viral infectious disease
H00296 Defects in RecQ helicases ... connections between all three proteins and the regulation of excess HR (Homologous recombination). It was also indicated that BLM is involved in repair of stalled DNA replication forks, and that WRN is required ... Congenital malformation BLM [HSA:641] [KO:K10901]
WRN [HSA:7486] [KO:K10900]
RECQL4 [HSA:9401] [KO:K10730]
H00372 Smallpox
Variola 		... disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive vaccination campaigns. Viral infectious disease
H00384 Yellow fever ... an infectious disease caused by Yellow fever virus (YFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. YFV was first isolated in 1927 in West Africa. Viral infectious disease
H00386 Lassa fever ... acute viral hemorrhagic illness caused by Lassa virus (LASV), an Old World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LASV was first discovered in 1969 in Nigeria. Viral infectious disease
H00394 Measles ... morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The virus was first isolated in 1954 and transformed into a vaccine in 1963 in the USA. Viral infectious disease hsa05162 Measles
H00395 Rubella ... Rubivirus genus, the Togaviridae family of +ssRNA viruses. Congenital rubella syndrome can occur in a developing baby when the mother is infected early in pregnancy. The virus was first isolated in 1962. Viral infectious disease
H00397 Ross River fever ... River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated in 1972 near Ross River in North Queensland, Australia. Viral infectious disease
H00401 Respiratory syncytial virus infection
RSV infection 		... illness in infants and young children. It affects the elderly and immunocompromised individuals as well. Although RSV was discovered half a century ago, no effective treatment for the infection exists. Viral infectious disease
H00405 Marburg disease
Marburg hemorrhagic fever 		... within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent of Ebola hemorrhagic fever. Marburgvirus was discovered in 1967 in Germany. Viral infectious disease
H00416 Omsk hemorrhagic fever Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic ... Viral infectious disease
H00510 Feingold syndrome ... found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2). Congenital malformation (FGLDS1) MYCN [HSA:4613] [KO:K09109]
(FGLDS2) MIR17HG [HSA:407975]
H00563 Emery-Dreifuss muscular dystrophy ... clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle ... Nervous system disease; Musculoskeletal disease (EDMD1) EMD [HSA:2010] [KO:K12569]
(EDMD2 EDMD3) LMNA [HSA:4000] [KO:K12641]
(EDMD4) SYNE1 [HSA:23345] [KO:K19326]
(EDMD5) SYNE2 [HSA:23224] [KO:K19346]
(EDMD6) FHL1 [HSA:2273] [KO:K14365]
(EDMD7) TMEM43 [HSA:79188] [KO:K27488]
H00568 Myotonic dystrophy ... multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
H00583 Opitz-GBBB syndrome ... disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental ... Congenital malformation (GBBB1) MID1 [HSA:4281] [KO:K08285]
(GBBB2) SPECC1L [HSA:23384] [KO:K23028]
H00598 46,XX testicular disorder of sex development ... condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who ... Reproductive system disease (SRXX1) SRY [HSA:6736] [KO:K09266]
(SRXX3) SOX3 [HSA:6658] [KO:K09267]
(SRXX4) NR5A1 [HSA:2516] [KO:K08560]
(SRXX5) NR2F2 [HSA:7026] [KO:K08548]
H00607 46,XY gonadal dysgenesis Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial ... Reproductive system disease (SRXY1) SRY [HSA:6736] [KO:K09266]
(SRXY2) NR0B1 [HSA:190] [KO:K08562]
(SRXY3) NR5A1 [HSA:2516] [KO:K08560]
(SRXY5) CBX2 [HSA:84733] [KO:K11451]
(SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
(SRXY7) DHH [HSA:50846] [KO:K11990]
(SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
(SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
(SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
(SRXY11) DHX37 [HSA:57647] [KO:K14780]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]
H00612 Primary open angle glaucoma
Glaucoma 1 		... four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients. Nervous system disease (GLC1A) MYOC [HSA:4653] [KO:K23027]
(GLC1E) OPTN [HSA:10133] [KO:K19946]
(GLC1F) ASB10 [HSA:136371] [KO:K10332]
(GLC1G) WDR36 [HSA:134430] [KO:K14554]
(GLC1O) NTF4 [HSA:4909] [KO:K12457]
H00616 Bowen-Conradi syndrome ... complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis ... Ribosomopathy EMG1 [HSA:10436] [KO:K14568]
H00709 Birk Barel mental retardation syndrome (BBMRS)
Birk-Barel syndrome (BIBAS) 		... syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease, was found to be imprinted. Congenital malformation KCNK9 [HSA:51305] [KO:K04919]
H00768 Autosomal recessive intellectual developmental disorder
Autosomal recessive mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... Mental and behavioural disorder (MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K19478]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K09259]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) NDST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319] [KO:K24594]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
(MRT73) NAA20 [HSA:51126] [KO:K17972]
(MRT74) APC2 [HSA:10297] [KO:K02085]
(MRT75) PIDD1 [HSA:55367] [KO:K10130]
(MRT76) GRIA1 [HSA:2890] [KO:K05197]
(MRT77) CEP104 [HSA:9731] [KO:K16458]
(MRT78) WDR11 [HSA:55717] [KO:K24260]
(MRT79) TPR [HSA:7175] [KO:K09291]
(MRT80) CASP2 [HSA:835] [KO:K02186]
(MRT81) ASCC3 [HSA:10973] [KO:K18663]
(MRT82) NSUN6 [HSA:221078] [KO:K21971]
H00892 Bronchiectasis with or without elevated sweat chloride ... patients have been shown to have mutations in the epithelial sodium channel ENaC. Furthermore, a three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patients. Respiratory system disease (BESC1) SCNN1B [HSA:6338] [KO:K04825]
(BESC2) SCNN1A [HSA:6337] [KO:K04824]
(BESC3) SCNN1G [HSA:6340] [KO:K04827]
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