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Entry Name Description Category Pathway Gene
H00013 Small cell lung cancer ... include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression ... Cancer hsa05222 Small cell lung cancer MYC (amplification) [HSA:4609] [KO:K04377]
BCL2 (overexpression) [HSA:596] [KO:K02161]
FHIT [HSA:2272] [KO:K01522]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
PTEN [HSA:5728] [KO:K01110]
PPP2R1B [HSA:5519] [KO:K03456]
H00014 Non-small cell lung cancer Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous ... Cancer hsa05223 Non-small cell lung cancer EML4-ALK (translocation) [HSA:238] [KO:K05119]
CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
KRAS [HSA:3845] [KO:K07827]
EGFR [HSA:1956] [KO:K04361]
FHIT [HSA:2272] [KO:K01522]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
MET [HSA:4233] [KO:K05099]
BRAF [HSA:673] [KO:K04365]
PIK3CA [HSA:5290] [KO:K00922]
IRF1 [HSA:3659] [KO:K09444]
PPP2R1B [HSA:5519] [KO:K03456]
H00021 Renal cell carcinoma ... (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading ... Cancer hsa05211 Renal cell carcinoma PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105]
VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871]
MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099]
FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679]
FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
HNF1A [HSA:6927] [KO:K08036]
OGG1 [HSA:4968] [KO:K03660]
PBRM1 [HSA:55193] [KO:K11757]
H00024 Prostate cancer Prostate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of key ... Cancer hsa05215 Prostate cancer AR (amplification, mutation) [HSA:367] [KO:K08557]
CDKN1B (allelic loss) [HSA:1027] [KO:K06624]
NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348]
PTEN (allelic loss) [HSA:5728] [KO:K01110]
GSTP1 (hypermethylation) [HSA:2950] [KO:K23790]
TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435]
TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431]
TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592]
TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593]
SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431]
SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376]
DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592]
MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679]
KLF6 (somatic mutation) [HSA:1316] [KO:K09207]
MXI1 (somatic mutation) [HSA:4601] [KO:K09114]
ZFHX3 (somatic mutation) [HSA:463] [KO:K09378]
H00058 Amyotrophic lateral sclerosis (ALS)
Lou Gehrig disease 		Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with ... Neurodegenerative disease hsa05014 Amyotrophic lateral sclerosis (ALS1) SOD1 [HSA:6647] [KO:K04565]
(ALS1) NEFH [HSA:4744] [KO:K04574]
(ALS1) PRPH [HSA:5630] [KO:K07607]
(ALS1) DCTN1 [HSA:1639] [KO:K04648]
(ALS2) ALS2 [HSA:57679] [KO:K04575]
(ALS4) SETX [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS [HSA:2521] [KO:K13098]
(ALS8) VAPB [HSA:9217] [KO:K10707]
(ALS9) ANG [HSA:283] [KO:K16631]
(ALS10) TARDBP [HSA:23435] [KO:K23600]
(ALS11) FIG4 [HSA:9896] [KO:K22913]
(ALS12) OPTN [HSA:10133] [KO:K19946]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS18) PFN1 [HSA:5216] [KO:K05759]
(ALS19) ERBB4 [HSA:2066] [KO:K05085]
(ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
(ALS21) MATR3 [HSA:9782] [KO:K13213]
(ALS22) TUBA4A [HSA:7277] [KO:K07374]
(ALS23) ANXA11 [HSA:311] [KO:K17095]
(ALS24) NEK1 [HSA:4750] [KO:K08857]
(ALS25) KIF5A [HSA:3798] [KO:K10396]
(ALS26) TIA1 [HSA:7072] [KO:K13201]
(ALS27) SPTLC1 [HSA:10558] [KO:K00654]
(ALS28) LRP12 [HSA:29967] [KO:K20050]
(ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
(ALSPDC) MAPT [HSA:4137] [KO:K04380]
H00104 Alternative complement pathway component defects The alternative pathway (AP) is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by ... Primary immunodeficiency (CFBD) CFB [HSA:629] [KO:K01335]
(CFDD) CFD [HSA:1675] [KO:K01334]
(CFHD) CFH [HSA:3075] [KO:K04004]
(CFPD) CFP [HSA:5199] [KO:K15412]
H00109 Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen ... 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]
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia 		Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation ... Inherited metabolic disorder (FHCL1) LDLR [HSA:3949] [KO:K12473]
(FHCL1) EPHX2 [HSA:2053] [KO:K08726]
(FHCL1) GHR [HSA:2690] [KO:K05080]
(FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
(FHCL1) APOA2 [HSA:336] [KO:K08758]
(FHCL2) APOB [HSA:338] [KO:K14462]
(FHCL3) PCSK9 [HSA:255738] [KO:K13050]
(FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
H00245 Calcium sensing receptor (CASR) related disease ... Loss-of-function mutations in the CASR gene are responsible for familial hypocalciuric hypercalcemia (FHH1) and for neonatal severe hyperparathyroidism (NSHPT). FHH1 is caused by homozygous mutations and ... Inherited metabolic disorder CASR [HSA:846] [KO:K04612]
H00264 Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 		Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... Neurodegenerative disease (CMT1A/1E) PMP22 [HSA:5376] [KO:K19289]
(CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770]
(CMT1C) LITAF [HSA:9516] [KO:K19363]
(CMT1D/4E) EGR2 [HSA:1959] [KO:K12496]
(CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572]
(CMT1G) PMP2 [HSA:5375] [KO:K24977]
(CMT1H) FBLN5 [HSA:10516] [KO:K17340]
(CMT1I) POLR3B [HSA:55703] [KO:K03021]
(CMT1J) ITPR3 [HSA:3710] [KO:K04960]
(CMT2A1) KIF1B [HSA:23095] [KO:K10392]
(CMT2A2/6) MFN2 [HSA:9927] [KO:K06030]
(CMT2B) RAB7A [HSA:7879] [KO:K07897]
(CMT2B1) LMNA [HSA:4000] [KO:K12641]
(CMT2B2) PNKP [HSA:11284] [KO:K08073]
(CMT2C) TRPV4 [HSA:59341] [KO:K04973]
(CMT2CC) NEFH [HSA:4744] [KO:K04574]
(CMT2D) GARS1 [HSA:2617] [KO:K01880]
(CMT2DD) ATP1A1 [HSA:476] [KO:K01539]
(CMT2EE) MPV17 [HSA:4358] [KO:K13348]
(CMT2F) HSPB1 [HSA:3315] [KO:K04455]
(CMT2FF) CADM3 [HSA:57863] [KO:K06780]
(CMT2GG) GBF1 [HSA:8729] [KO:K18443]
(CMT2HH) JAG1 [HSA:182] [KO:K06052]
(CMT2II) SLC12A6 [HSA:9990] [KO:K14427]
(CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077]
(CMT2K) JPH1 [HSA:56704] [KO:K19530]
(CMT2L) HSPB8 [HSA:26353] [KO:K08879]
(CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484]
(CMT2N) AARS1 [HSA:16] [KO:K01872]
(CMT2O) DYNC1H1 [HSA:1778] [KO:K10413]
(CMT2P) LRSAM1 [HSA:90678] [KO:K10641]
(CMT2Q) DHTKD1 [HSA:55526] [KO:K15791]
(CMT2R) TRIM2 [HSA:23321] [KO:K11997]
(CMT2S) IGHMBP2 [HSA:3508] [KO:K19036]
(CMT2T) MME [HSA:4311] [KO:K01389]
(CMT2U) MARS1 [HSA:4141] [KO:K01874]
(CMT2V) NAGLU [HSA:4669] [KO:K01205]
(CMT2W) HARS1 [HSA:3035] [KO:K01892]
(CMT2X) SPG11 [HSA:80208] [KO:K19026]
(CMT2Y) VCP [HSA:7415] [KO:K13525]
(CMT2Z) MORC2 [HSA:22880] [KO:K24135]
(CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
(CMT4B2) SBF2 [HSA:81846] [KO:K18061]
(CMT4B3) SBF1 [HSA:6305] [KO:K18061]
(CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313]
(CMT4D) NDRG1 [HSA:10397] [KO:K18266]
(CMT4F) PRX [HSA:57716] [KO:K27395]
(CMT4H) FGD4 [HSA:121512] [KO:K05723]
(CMT4J) FIG4 [HSA:9896] [KO:K22913]
(CMT4K) SURF1 [HSA:6834] [KO:K14998]
(CMT6B) SLC25A46 [HSA:91137] [KO:K03454]
(CMT6C) PDXK [HSA:8566] [KO:K00868]
(CMTX1) GJB1 [HSA:2705] [KO:K07620]
(CMTX5) PRPS1 [HSA:5631] [KO:K00948]
(CMTX6) PDK3 [HSA:5165] [KO:K00898]
(CMTDIC) YARS1 [HSA:8565] [KO:K01866]
(CMTDIE) INF2 [HSA:64423] [KO:K23958]
(CMTDIF) GNB4 [HSA:59345] [KO:K04538]
(CMTRIB) KARS1 [HSA:3735] [KO:K04567]
(CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
(CMTRID) COX6A1 [HSA:1337] [KO:K02266]
H00292 Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00563 Emery-Dreifuss muscular dystrophy ... after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal ... 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]
H00582 Benign familial hematuria
Thin basement membrane nephropathy 		Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... Urinary system disease (BFH1) COL4A4 [HSA:1286] [KO:K06237]
(BFH2) COL4A3 [HSA:1285] [KO:K06237]
H00656 Scapuloperoneal myopathy ... (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene. Nervous system disease; Musculoskeletal disease (SPMM) MYH7 [HSA:4625] [KO:K17751]
(SCPNK) DES [HSA:1674] [KO:K07610]
(SPM) FHL1 [HSA:2273] [KO:K14365]
H00657 Reducing body myopathy ... intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains. Nervous system disease; Musculoskeletal disease FHL1 [HSA:2273] [KO:K14365]
H00697 X-linked myopathy with postural muscle atrophy ... phenotype where alternative muscle groups are hypertrophic. Linkage studies and haplotype analysis followed by direct gene sequencing have identified five mutations in the FHL1 gene in patients with XMPMA. Nervous system disease; Musculoskeletal disease FHL1 [HSA:2273] [KO:K14365]
H00774 Congenital insensitivity to pain ... complete loss of Nav1.7 current in all of the neurons in which this channel is expressed. Marsili syndrome(MARSIS) is an autosomal dominant congenital insensitivity to pain, caused by mutations in ZFHX2 gene. Nervous system disease (CIP) SCN9A [HSA:6335] [KO:K04841]
(MARSIS) ZFHX2 [HSA:85446] [KO:K09379]
H00775 Hemiplegic migraine Sporadic and familial hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree ... Nervous system disease (FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344]
(FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539]
(FHM3) SCN1A [HSA:6323] [KO:K04833]
H00804 Multiple cutaneous and uterine leiomyomata Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and ... Neoplasm FH [HSA:2271] [KO:K01679]
H00821 Age-related macular degeneration Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... Nervous system disease (ARMD1) HMCN1 [HSA:83872] [KO:K17341]
(ARMD1) CFHR1 [HSA:3078] [KO:K23815]
(ARMD1) CFHR3 [HSA:10878] [KO:K23815]
(ARMD2) ABCA4 [HSA:24] [KO:K05644]
(ARMD3) FBLN5 [HSA:10516] [KO:K17340]
(ARMD4) CFH [HSA:3075] [KO:K04004]
(ARMD5) ERCC6 [HSA:2074] [KO:K10841]
(ARMD6) RAX2 [HSA:84839] [KO:K09333]
(ARMD7) HTRA1 [HSA:5654] [KO:K08784]
(ARMD8) ARMS2 [HSA:387715] [KO:K25179]
(ARMD9) C3 [HSA:718] [KO:K03990]
(ARMD10) TLR4 [HSA:7099] [KO:K10160]
(ARMD11) CST3 [HSA:1471] [KO:K13899]
(ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
(ARMD13) CFI [HSA:3426] [KO:K01333]
(ARMD14) C2 [HSA:717] [KO:K01332]
(ARMD14) CFB [HSA:629] [KO:K01335]
(ARMD15) C9 [HSA:735] [KO:K04000]
H00825 Familial flecked retina syndrome The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group ... Nervous system disease (DHRD) EFEMP1 [HSA:2202] [KO:K18262]
(BLD) CFH [HSA:3075] [KO:K04004]
(FA) RDH5 [HSA:5959] [KO:K00061]
(RPA) RLBP1 [HSA:6017] [KO:K19625]
(RPA) RHO [HSA:6010] [KO:K04250]
(BCD) CYP4V2 [HSA:285440] [KO:K07427]
H00908 Mowat-Wilson syndrome ... Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene. Congenital malformation ZEB2 [HSA:9839] [KO:K23560]
H01022 Diseases of the tricarboxylic acid cycle Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate ... Inherited metabolic disorder (FMRD) FH [HSA:2271] [KO:K01679]
(MC2DN1) SDHA [HSA:6389] [KO:K00234]
(OGDHD) OGDH [HSA:4967] [KO:K00164]
H01263 Progressive cardiac conduction defect (PCCD)
Progressive familial heart block (PFHB)
Lenegre-Lev disease 		Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular ... Cardiovascular disease (PFHB1A) SCN5A [HSA:6331] [KO:K04838]
(PFHB1B) TRPM4 [HSA:54795] [KO:K04979]
H01270 Familial hypobetalipoproteinemia Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein ... Inherited metabolic disorder (FHBL1) APOB [HSA:338] [KO:K14462]
(FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]
H01434 Atypical hemolytic uremic syndrome The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated ... Hematologic disease (AHUS1) CFH [HSA:3075] [KO:K04004]
(AHUS1) CFHR3 [HSA:10878] [KO:K23815]
(AHUS1) CFHR1 [HSA:3078] [KO:K23815]
(AHUS2) CD46, MCP [HSA:4179] [KO:K04007]
(AHUS3) CFI, IF [HSA:3426] [KO:K01333]
(AHUS4) CFB [HSA:629] [KO:K01335]
(AHUS5) C3 [HSA:718] [KO:K03990]
(AHUS6) THBD [HSA:7056] [KO:K03907]
H01510 Malignant paraganglioma
Pheochromocytoma 		... clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- mutated tumors and is associated to the activation of hypoxic pathway, while the second cluster contains ... Cancer SDHD [HSA:6392] [KO:K00237]
SDHB [HSA:6390] [KO:K00235]
SDHC [HSA:6391] [KO:K00236]
NF1 [HSA:4763] [KO:K08052]
RET [HSA:5979] [KO:K05126]
VHL [HSA:7428] [KO:K03871]
TMEM127 [HSA:55654] [KO:K25206]
MAX [HSA:4149] [KO:K04453]
KIF1B [HSA:23095] [KO:K10392]
EPAS1 [HSA:2034] [KO:K09095]
FH [HSA:2271] [KO:K01679]
H01529 Avascular necrosis of femoral head
Osteonecrosis of the femoral head 		Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death ... Musculoskeletal disease (ANFH1) COL2A1 [HSA:1280] [KO:K19719]
(ANFH2) TRPV4 [HSA:59341] [KO:K04973]
SERPINE1 [HSA:5054] [KO:K03982]
VEGFA [HSA:7422] [KO:K05448]
NOS3 [HSA:4846] [KO:K13242]
ABCB1 [HSA:5243] [KO:K05658]
H01637 Hypertriglyceridemia ... medications, renal insufficiency, pregnancy, etc. Genetic conditions with HTG include familial HTG (FHTG), familial combined hyperlipidemia (FCHL) [DS:H00153], and familial dysbetalipoproteinemia (Type ... Endocrine and metabolic disease (HYTG1) APOA5 [HSA:116519] [KO:K09025]
(HYTG2) CREB3L3 [HSA:84699] [KO:K09048]
H01640 Uterine leiomyoma
Fibroid 		... leiomyoma formation. The evidence points to at least 4 molecular subclasses: leiomyomas with MED12 mutation, FH inactivation, HMGA2 overexpression, and COL4A6-COL4A5 deletion. While it is thought that the initial ... Reproductive system disease HMGA2 (rearrangement) [HSA:8091] [KO:K09283]
MED12 (mutation) [HSA:9968] [KO:K15162]
COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237]
Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679]
H01712 Fulminant hepatic failure
Fulminant hepatitis 		Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of ... Digestive system disease
H01726 Membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours ... Immune system disease; Urinary system disease CFH [HSA:3075] [KO:K04004]
CFHR5 [HSA:81494] [KO:K23817]
DGKE [HSA:8526] [KO:K00901]
H01918 Familial autosomal recessive hypercholesterolemia ... levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and ... Inherited metabolic disorder LDLRAP1 [HSA:26119] [KO:K12474]
H01935 Familial hypercholanemia Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation Inherited metabolic disorder (FHCA1) TJP2 [HSA:9414] [KO:K06098]
(FHCA1) BAAT [HSA:570] [KO:K00659]
(FHCA2) SLC10A1 [HSA:6554] [KO:K14341]
H02004 Fumarase deficiency
Fumaric aciduria 		... is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Patients usually ... Inherited metabolic disorder FH [HSA:2271] [KO:K01679]
H02049 Bilateral macronodular adrenal hyperplasia ... tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, a new gene, ARMC5, was identified ... Endocrine and metabolic disease ARMC5 [HSA:79798] [KO:K22499]
MEN1 [HSA:4221] [KO:K14970]
FH [HSA:2271] [KO:K01679]
PDE11A [HSA:50940] [KO:K13298]
GNAS1 [HSA:2778] [KO:K04632]
APC [HSA:324] [KO:K02085]
MC2R [HSA:4158] [KO:K04200]
PRKACA [HSA:5566] [KO:K04345]
H02108 Basal laminar drusen ... stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease. Nervous system disease CFH [HSA:3075] [KO:K04004]
H02216 Juvenile absence epilepsy Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of ... Nervous system disease (EJA1) EFHC1 [HSA:114327] [KO:K23029]
(EJA2) CLCN2 [HSA:1181] [KO:K05011]
H02217 Juvenile myoclonic epilepsy Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks ... Nervous system disease (EJM1) EFHC1 [HSA:114327] [KO:K23029]
(EJM5) GABRA1 [HSA:2554] [KO:K05175]
(EJM6) CACNB4 [HSA:785] [KO:K04865]
(EJM7) GABRD [HSA:2563] [KO:K05184]
(EJM8) CLCN2 [HSA:1181] [KO:K05011]
(EJM10) ICK [HSA:22858] [KO:K08828]
H02383 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region ... Congenital malformation AMMECR1 [HSA:9949] [KO:K24611]
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