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Entry Name Description Category Pathway Gene
H00001 B-cell acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia 		... associated with sufficiently unique clinical, immunophenotypic, and/or prognostic features so that they can be considered as distinct entities. The most common rearrangements observed in B-ALL are the t(12;21) ... Cancer BCR-ABL (translocation) [HSA:25] [KO:K06619]
MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184]
E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355]
TEL-AML1 (translocation) [HSA:861] [KO:K08367]
c-MYC (rearrangement) [HSA:4609] [KO:K04377]
CRLF2 (rearrangement) [HSA:64109] [KO:K05078]
PAX5 (rearrangement) [HSA:5079] [KO:K09383]
H00019 Pancreatic cancer ... the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA). Normal duct epithelium progresses to infiltrating ... Cancer hsa05212 Pancreatic cancer KRAS [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
SMAD4 [HSA:4089] [KO:K04501]
STK11 [HSA:6794] [KO:K07298]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
(PNCA1) PALLD [HSA:23022] [KO:K22029]
(PNCA2) BRCA2 [HSA:675] [KO:K08775]
(PNCA3) PALB2 [HSA:79728] [KO:K10897]
(PNCA4) BRCA1 [HSA:672] [KO:K10605]
(PNCA5) RABL3 [HSA:285282] [KO:K07933]
H00022 Bladder cancer ... variants arise either from flat, high-grade carcinoma in situ (CIS) and progress to invasive tumours, or they arise de novo as invasive tumours. Low-grade papillary tumors frequently show a constitutive activation ... Cancer hsa05219 Bladder cancer H-ras (activating mutation) [HSA:3265] [KO:K02833]
FGFR3 (activating mutation) [HSA:2261] [KO:K05094]
p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621]
p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451]
RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618]
EGFR (overexpression) [HSA:1956] [KO:K04361]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
RASSF1 (hypermethylation) [HSA:11186] [KO:K09850]
DAPK1 (hypermethylation) [HSA:1612] [KO:K08803]
H00024 Prostate cancer ... diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling ... 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]
H00030 Cervical cancer ... Experimental studies show that the E6 and E7 genes of these high risk HPVs are oncogenes that deregulate key cell cycle controls. The E6 and E7 oncoproteins bind respectively to the p53 and Retinoblastoma (Rb) ... Cancer K-ras (mutation) [HSA:3845] [KO:K07827]
H-ras (mutation) [HSA:3265] [KO:K02833]
EGFR (amplification) [HSA:1956] [KO:K04361]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
p21 (overexpression) [HSA:1026] [KO:K06625]
CDK4 (overexpression) [HSA:1019] [KO:K02089]
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
H00034 Carcinoid ... uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine cells that are normally and diffusely ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00041 Kaposi sarcoma ... disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, they share the same histological traits and are all associated with infection by the human herpesvirus ... Cancer; Viral infectious disease hsa05167 Kaposi sarcoma-associated herpesvirus infection BCL2 (overexpression) [HSA:596] [KO:K02161]
MYC (overexpression) [HSA:4609] [KO:K04377]
FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358]
KRAS (overexpression, mutation) [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
H00043 Neuroblastoma ... near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less ... Cancer MYCN (normal/amplified) [HSA:4613] [KO:K09109]
NTRK1 (high/low expression) [HSA:4914] [KO:K03176]
NTRK2 (low/high expression) [HSA:4915] [KO:K04360]
NTRK3 (high/low expression) [HSA:4916] [KO:K05101]
(NBLST1) KIF1B [HSA:23095] [KO:K10392]
(NBLST2) PHOX2B [HSA:8929] [KO:K09330]
(NBLST3) ALK [HSA:238] [KO:K05119]
H00045 Pancreatic neuroendocrine tumor ... known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. They may occur sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia ... Cancer MEN1 [HSA:4221] [KO:K14970]
DAXX [HSA:1616] [KO:K02308]
ATRX [HSA:546] [KO:K10779]
H00047 Gallbladder cancer ... chronic inflammation. Although KRAS mutations are rarely detected in GBC associated with gallstones, they are frequent and early events in tumors associated with congenital abnormality of the pancreatic bile-duct ... 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]
H00048 Hepatocellular carcinoma
Liver cancer 		... epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin ... Cancer hsa05225 Hepatocellular carcinoma TGFA (overexpression) [HSA:7039] [KO:K08774]
IGF2 (overexpression) [HSA:3481] [KO:K13769]
IGF1R (overexpression) [HSA:3480] [KO:K05087]
TERT (overexpression) [HSA:7015] [KO:K11126]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
HGF (overexpression) [HSA:3082] [KO:K05460]
MET (mutation, overexpression) [HSA:4233] [KO:K05099]
MYC (amplification) [HSA:4609] [KO:K04377]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
TP53 [HSA:7157] [KO:K04451]
PTEN [HSA:5728] [KO:K01110]
CTNNB1 [HSA:1499] [KO:K02105]
AXIN1 [HSA:8312] [KO:K02157]
KEAP1 [HSA:9817] [KO:K10456]
NFE2L2 [HSA:4780] [KO:K05638]
PIK3CA [HSA:5290] [KO:K00922]
ARID1A [HSA:8289] [KO:K11653]
ARID2 [HSA:196528] [KO:K11765]
CASP8 [HSA:841] [KO:K04398]
IGF2R [HSA:3482] [KO:K06564]
H00050 Synovial sarcoma ... The tumors arise at any age, but affect mainly young adults and more commonly males. Clinically, they appear as deep-seated slowly growing masses. In more than half of the cases, metastases develop, primarily ... Cancer SYT-SSX1 (translocation) [HSA:6756] [KO:K15624]
SYT-SSX2 (translocation) [HSA:6757] [KO:K15625]
IGF-IR (overexpression) [HSA:3480] [KO:K05087]
H00057 Parkinson disease ... intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising key roles of DA neuronal function and survival. The demise of DA neurons located in the SNc leads to a ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19) DNAJC6 [HSA:9829] [KO:K09526]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(IDLDP) NR4A2 [HSA:4929] [KO:K08558]
MAPT [HSA:4137] [KO:K04380]
H00059 Huntington disease ... impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ stretch translocate to the nucleus where they impair transcription and induce neuronal death. Neurodegenerative disease hsa05016 Huntington disease (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533]
H00064 Ataxia telangiectasia
Louis-Bar syndrome
Boder-Sedgwick syndrome 		... frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the ... Immune system disease; Nervous system disease (AT) ATM [HSA:472] [KO:K04728]
H00071 Hereditary fructose intolerance
Fructosemia 		... disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney. Aldolase is the enzyme that converts fructose 6P (a six-carbon compound) to glycerone-P and glyceraldehyde-3P ... Inherited metabolic disorder ALDOB [HSA:229] [KO:K01623]
H00075 Refsum disease
Heredopathia atactica polyneuritiformis 		... body fluids is the hallmark of RD. Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role of phytanic acid alpha-oxidation in peroxisomes have been shown to be responsible for some, but ... Inherited metabolic disorder, Peroxisomal disease PHYH [HSA:5264] [KO:K00477]
PEX7 [HSA:5191] [KO:K13341]
H00088 Common variable immunodeficiency ... The mutated genes that produce the CVID phenotype are known only for a minority of patients, and they are diverse in their influence on immune function. Homozygous mutations in ICOS are clearly the cause ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00089 IFN-gamma/IL-12 axis
Mendelian susceptibility to mycobacterial disease (MSMD) 		... be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling. Primary immunodeficiency (IMD27) IFNGR1 [HSA:3459] [KO:K05132]
(IMD28) IFNGR2 [HSA:3460] [KO:K05133]
(IMD29) IL12B [HSA:3593] [KO:K05425]
(IMD30) IL12RB1 [HSA:3594] [KO:K05063]
(IMD31) STAT1 [HSA:6772] [KO:K11220]
(IMD32) IRF8 [HSA:3394] [KO:K10155]
(IMD33) IKBKG [HSA:8517] [KO:K07210]
(IMD34) CYBB [HSA:1536] [KO:K21421]
(IMD38) ISG15 [HSA:9636] [KO:K12159]
(IMD42) RORC [HSA:6097] [KO:K08534]
H00091 T-B+Severe combined immunodeficiency ... deficiency. Rare cases of SCID consisting of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00094 Immunodeficiency associated with DNA repair defects ... syndromes or DNA-repair disorders have a characteristic cytogenetic feature, chromosome instability. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop ... 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 ... 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 NEMO, which is located on the ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00102 Classic complement pathway component defects Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... Primary immunodeficiency (C1QD1) C1QA [HSA:712] [KO:K03986]
(C1QD2) C1QB [HSA:713] [KO:K03987]
(C1QD3) C1QC [HSA:714] [KO:K03988]
(C1SD) C1S [HSA:716] [KO:K01331]
(C2D) C2 [HSA:717] [KO:K01332]
(C3D) C3 [HSA:718] [KO:K03990]
(C4AD) C4A [HSA:720] [KO:K03989]
(C4BD) C4B [HSA:721] [KO:K03989]
H00106 Complement regulatory protein defects ... undesirable complement activation, host tissues express a number of complement regulatory proteins (CRPs). They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP), Factor I, decay accelerating ... Primary immunodeficiency SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
CFI [HSA:3426] [KO:K01333]
CD55 [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
H00120 Muscular dystrophy-dystroglycanopathy type A ... variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00125 Fabry disease
Anderson-Fabry disease 		... multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00137 Niemann-Pick disease type A/B ... cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible for the production of ceramide. Type A NPD is the infantile form characterized ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00145 Aspartylglucosaminuria ... autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00147 Sialuria ... differential diagnosis of free sialic acid storage also includes French type sialuria, a disorder due to mutations in the UDP-GlcNAc 2-epimerase (GNE), the key enzyme for the biosynthesis of sialic acid. Inherited metabolic disorder, Lysosomal disease (SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301]
(French type) GNE [HSA:10020] [KO:K12409]
H00151 Cerebrotendinous xanthomatosis
Van Bogaert-Scherer-Epstein Disease 		... recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons. Inherited metabolic disorder CYP27A1 [HSA:1593] [KO:K00488]
H00158 Lecithin:cholesterol acyltransferase deficiency
Norum disease
Fish-eye disease 		Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue ... Inherited metabolic disorder LCAT [HSA:3931] [KO:K00650]
H00168 Oculocutaneous albinism Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. Inherited metabolic disorder (OCA1) TYR [HSA:7299] [KO:K00505]
(OCA2) OCA2 [HSA:4948] [KO:K24200]
(OCA2) MC1R [HSA:4157] [KO:K04199]
(OCA3) TYRP1 [HSA:7306] [KO:K00506]
(OCA4) SLC45A2 [HSA:51151] [KO:K15378]
(OCA6) SLC24A5 [HSA:283652] [KO:K13753]
(OCA7) LRMDA [HSA:83938] [KO:K24399]
(OCA8) DCT [HSA:1638] [KO:K01827]
H00177 Neonatal adrenoleukodystrophy ... and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which encode proteins involved in peroxisome assembly and ... Inherited metabolic disorder, Peroxisomal disease (PBD1B) PEX1 [HSA:5189] [KO:K13338]
(PBD2B) PEX5 [HSA:5830] [KO:K13342]
(PBD3B) PEX12 [HSA:5193] [KO:K13345]
(PBD4B) PEX6 [HSA:5190] [KO:K13339]
(PBD5B) PEX2 [HSA:5828] [KO:K06664]
(PBD6B) PEX10 [HSA:5192] [KO:K13346]
(PBD7B) PEX26 [HSA:55670] [KO:K13340]
(PBD8B) PEX16 [HSA:9409] [KO:K13335]
(PBD9B) PEX7 [HSA:5191] [KO:K13341]
(PBD10B) PEX3 [HSA:8504] [KO:K13336]
(PBD14B) PEX11B [HSA:8799] [KO:K13352]
H00180 Holocarboxylase synthetase deficiency
Multiple carboxylase deficiency 		... activity of multiple carboxylases. In humans, four carboxylases are known to be biotinylated by HLCS. They are pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and acetyl-CoA ... Inherited metabolic disorder HLCS [HSA:3141] [KO:K01942]
H00183 Homocystinuria Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. Inherited metabolic disorder CBS [HSA:875] [KO:K01697]
MTHFR [HSA:4524] [KO:K25004]
(HMAE) MTRR [HSA:4552] [KO:K00597]
(HMAG) MTR [HSA:4548] [KO:K00548]
H00205 Peroxisome biogenesis disorder ... syndrome is the most severe form and results in neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. The patients of NALD and IRD have similar ... Inherited metabolic disorder, Peroxisomal disease (PBD1A/1B) PEX1 [HSA:5189] [KO:K13338]
(PBD2A/2B) PEX5 [HSA:5830] [KO:K13342]
(PBD3A/3B) PEX12 [HSA:5193] [KO:K13345]
(PBD4A/4B) PEX6 [HSA:5190] [KO:K13339]
(PBD5A/5B) PEX2 [HSA:5828] [KO:K06664]
(PBD6A/6B) PEX10 [HSA:5192] [KO:K13346]
(PBD7A/7B) PEX26 [HSA:55670] [KO:K13340]
(PBD8A/8B) PEX16 [HSA:9409] [KO:K13335]
(PBD9B) PEX7 [HSA:5191] [KO:K13341]
(PBD10A) PEX3 [HSA:8504] [KO:K13336]
(PBD11A/11B) PEX13 [HSA:5194] [KO:K13344]
(PBD12A) PEX19 [HSA:5824] [KO:K13337]
(PBD13A) PEX14 [HSA:5195] [KO:K13343]
(PBD14B) PEX11B [HSA:8799] [KO:K13352]
H00207 Rhizomelic chondrodysplasia punctata ... genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes. Inherited metabolic disorder, Peroxisomal disease (RCDP1) PEX7 [HSA:5191] [KO:K13341]
(RCDP2) GNPAT [HSA:8443] [KO:K00649]
(RCDP3) AGPS [HSA:8540] [KO:K00803]
(RCDP4) FAR1 [HSA:84188] [KO:K13356]
(RCDP5) PEX5 [HSA:5830] [KO:K13342]
H00210 Wilson disease
Hepatolenticular degeneration 		... disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver. Inherited metabolic disorder ATP7B [HSA:540] [KO:K17686]
H00214 Hypophosphatemic rickets ... mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ... 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]
H00215 Periodic paralysis ... periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP), and ... Nervous system disease; Musculoskeletal disease (HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837]
(HOKPP1) CACNA1S [HSA:779] [KO:K04857]
(ATS) KCNJ2 [HSA:3759] [KO:K04996]
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