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Entry Name Description Category Pathway Gene
H00001 B-cell acute lymphoblastic leukemia
B-cell acute lymphocytic leukemia 		... observed in B-ALL are the t(12;21) (p13;q22) rearrangement resulting in expression of the ETV6-RUNX1 fusion (TEL-AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion ... 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]
H00003 Acute myeloid leukemia ... hematopoietic differentiation provide second necessary event for leukemogenesis. Transcription factor fusion proteins such as PML-RARalpha (in Acute promyelocytic leukemia, a subtype of AML), AML-ETO or ... Cancer hsa05221 Acute myeloid leukemia PML-RARalpha (translocation) [HSA:5371] [KO:K10054]
AML1-ETO (translocation) [HSA:861] [KO:K08367]
PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055]
FLT3 [HSA:2322] [KO:K05092]
KIT [HSA:3815] [KO:K05091]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
AML1 [HSA:861] [KO:K08367]
CEBPA [HSA:1050] [KO:K09055]
CBFB [HSA:865] [KO:K25826]
CHIC2 [HSA:26511]
DNMT3A [HSA:1788] [KO:K17398]
ETV6 [HSA:2120] [KO:K03211]
GATA2 [HSA:2624] [KO:K17894]
JAK2 [HSA:3717] [KO:K04447]
LPP [HSA:4026] [KO:K16676]
MLLT10 [HSA:8028] [KO:K23588]
NPM1 [HSA:4869] [KO:K11276]
NUP214 [HSA:8021] [KO:K14317]
PICALM [HSA:8301] [KO:K20044]
SH3GL1 [HSA:6455] [KO:K11247]
TERT [HSA:7015] [KO:K11126]
H00004 Chronic myeloid leukemia ... proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive ... Cancer hsa05220 Chronic myeloid leukemia BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619]
MECOM (overexpression) [HSA:2122] [KO:K04462]
RUNX1 (translocation) [HSA:861] [KO:K08367]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
H00014 Non-small cell lung cancer ... signals to the nucleus. Mutations or overexpression of EGFR leads to a proliferative advantage. EML4-ALK fusion leads to constitutive ALK activation, which causes cell proliferation, invasion, and inhibition ... 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]
H00018 Gastric cancer ... classification gastric cancer is divided into two distinct histological groups - the intestinal and diffuse types. Several genetic changes have been identified in intestinal-type GC. The intestinal metaplasia ... Cancer hsa05226 Gastric cancer CDX2 (overexpression) [HSA:1045] [KO:K22234]
TERT (overexpression) [HSA:7015] [KO:K11126]
RARB (reduced expression) [HSA:5915] [KO:K08528]
CDKN1B (reduced expression) [HSA:1027] [KO:K06624]
TGFBR1 (reduced expression) [HSA:7046] [KO:K04674]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
CCNE1 (amplification) [HSA:898] [KO:K06626]
MET (amplification) [HSA:4233] [KO:K05099]
FGFR2 (amplification) [HSA:2263] [KO:K05093]
MLH1 (methylation) [HSA:4292] [KO:K08734]
TP53 [HSA:7157] [KO:K04451]
APC [HSA:324] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
KRAS [HSA:3845] [KO:K07827]
NRAS [HSA:4893] [KO:K07828]
CDH1 [HSA:999] [KO:K05689]
MUTYH [HSA:4595] [KO:K03575]
PIK3CA [HSA:5290] [KO:K00922]
H00034 Carcinoid ... They most frequently occur in the midgut and develop from neuroendocrine cells that are normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological studies report a familial ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00035 Ewing sarcoma ... associated with the translocation t(11;22)(q24;q12), which leads to the formation of the EWSR1-FLI1 fusion gene. In another 10-15% of cases the translocation t(21;22)(q22;q12) generates the EWSR1-ERG fusion ... Cancer EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436]
EWSR1-ERG (translocation) [HSA:2078] [KO:K09435]
EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431]
EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592]
EWSR1-FEV (translocation) [HSA:54738] [KO:K09437]
EWSR1 [HSA:2130] [KO:K13209]
H00037 Rhabdomyosarcoma ... associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular ... Cancer PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201]
PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
SLC22A18 [HSA:5002] [KO:K08214]
DICER1 [HSA:23405] [KO:K11592]
H00049 Myxoid liposarcoma ... the t(12;16)(q13;p11), present cytogenetically in >90% of the cases. The translocation leads to the fusion of the DDIT3(CHOP) and FUS(TLS) genes at 12q13 and 16p11, respectively, and the generation of ... Cancer FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452]
EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452]
H00050 Synovial sarcoma ... poorly differentiated tumors. The breakpoints of the t(X; 18) have been cloned and shown to involve the fusion of the SYT gene at 18q11 to either of two highly homologous genes at Xp11 called SSX1 and SSX2 ... Cancer SYT-SSX1 (translocation) [HSA:6756] [KO:K15624]
SYT-SSX2 (translocation) [HSA:6757] [KO:K15625]
IGF-IR (overexpression) [HSA:3480] [KO:K05087]
H00051 Alveolar soft part sarcoma ... characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TFE3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ... Cancer ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105]
H00052 Clear cell sarcoma of soft tissue ... translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic for CCS and can ... Cancer EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]
H00053 Extraskeletal myxoid chondrosarcoma ... predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion ... Cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00058 Amyotrophic lateral sclerosis (ALS)
Lou Gehrig disease 		... other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ... 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]
H00118 Congenital disorders of glycosylation type I ... These diseases demonstrate a broad range of clinical manifestation, associated with developmental delay, psychomotor retardation, hypotonia, seizures, hepatomegaly, microcephaly, and pericardial effusion. Inherited metabolic disorder (CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-It) PGM1 [HSA:5236] [KO:K01835]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iv) NGLY1 [HSA:55768] [KO:K01456]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
(CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
(CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
(CDG-Ibb) DHDDS [HSA:79947] [KO:K11778]
(CDG-Icc) MAGT1 [HSA:84061] [KO:K19478]
H00144 Mucolipidosis IV ... 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 lysosomes. Inherited metabolic disorder, Lysosomal disease MCOLN1 [HSA:57192] [KO:K04992]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... Type 2, known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00149 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms ... Inherited metabolic disorder, Lysosomal disease (CLN1) PPT1 [HSA:5538] [KO:K01074]
(CLN2) TPP1 [HSA:1200] [KO:K01279]
(CLN3) CLN3 [HSA:1201] [KO:K12389]
(CLN4A/6) CLN6 [HSA:54982] [KO:K12359]
(CLN4B) DNAJC5 [HSA:80331] [KO:K09525]
(CLN5) CLN5 [HSA:1203] [KO:K12390]
(CLN7) MSFD8 [HSA:256471] [KO:K12307]
(CLN8) CLN8 [HSA:2055] [KO:K12360]
(CLN10) CTSD [HSA:1509] [KO:K01379]
(CLN11) GRN [HSA:2896] [KO:K23879]
(CLN12) ATP13A2 [HSA:23400] [KO:K13526]
(CLN13) CTSF [HSA:8722] [KO:K01373]
(CLN14) KCTD7 [HSA:154881] [KO:K21917]
H00278 Enteropathogenic Escherichia coli (EPEC) infection ... and EHEC [DS:H00277] strains are characterized by the type III secretion system and its cognate effectors encoded in the locus of enterocyte effacement (LEE), but EPEC does not release diffusible toxins. Bacterial infectious disease hsa05130 Pathogenic Escherichia coli infection
H00458 Syndromic craniosynostoses Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... Congenital malformation (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
(Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
(Muenke) FGFR3 [HSA:2261] [KO:K05094]
(Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
(Antley-Bixler) POR [HSA:5447] [KO:K00327]
(Carpenter) RAB23 [HSA:51715] [KO:K06234]
(Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
(Noonan) KRAS [HSA:3845] [KO:K07827]
(Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]
H00484 Multiple synostosis syndrome Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional ... Congenital malformation (SYNS1) NOG [HSA:9241] [KO:K04658]
(SYNS2) GDF5 [HSA:8200] [KO:K04664]
(SYNS3) FGF9 [HSA:2254] [KO:K04358]
(SYNS4) GDF6 [HSA:392255] [KO:K20012]
H00499 Spondylocarpotarsal synostosis syndrome ... syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal ... Congenital malformation FLNB (nonsense mutation) [HSA:2317] [KO:K27392]
H00500 Keutel syndrome Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported. Congenital malformation MGP [HSA:4256] [KO:K19481]
H00517 Spondylocostal dysostosis ... (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due ... Congenital malformation (SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LNFG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701]
H00526 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Jacobs syndrome 		... chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions. Congenital malformation PRG4 [HSA:10216] [KO:K24286]
H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) ... chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene. Congenital malformation NOTCH3 [HSA:4854] [KO:K20995]
H00563 Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal ... 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]
H00626 Focal segmental glomerulosclerosis ... and segmental glomerular sclerosis and foot-process effacement. As the disease progresses, a more diffuse and global pattern of sclerosis evolves. FSGS accounts for 7-20 % of idiopathic nephrotic syndrome ... Urinary system disease (FSGS1) ACTN4 [HSA:81] [KO:K05699]
(FSGS2) TRPC6 [HSA:7225] [KO:K04969]
(FSGS3) CD2AP [HSA:23607] [KO:K13738]
(FSGS4) APOL1 [HSA:8542] [KO:K23585]
(FSGS5) INF2 [HSA:64423] [KO:K23958]
(FSGS6) MYO1E [HSA:4643] [KO:K10356]
(FSGS7) PAX2 [HSA:5076] [KO:K15608]
(FSGS8) ANLN [HSA:54443] [KO:K18621]
(FSGS9) CRB2 [HSA:286204] [KO:K16681]
(FSGS10) LMX1B [HSA:4010] [KO:K09371]
(FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001]
H00687 Fraser syndrome ... cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations. Congenital malformation FRAS1 [HSA:80144] [KO:K23379]
GRIP1 [HSA:23426] [KO:K20251]
FREM2 [HSA:341640] [KO:K23380]
H00695 Mal de Meleda
Meleda disease 		... recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal surface of the hands and feet as ... Congenital malformation SLURP1 [HSA:57152] [KO:K23681]
H00710 Erythrokeratodermia variabilis ... hyperkeratosis. Lesions usually appear within the first year of life but may arise later in childhood. Diffuse palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused ... Congenital malformation (EKVP1) GJB3 [HSA:2707] [KO:K07622]
(EKVP2) GJB4 [HSA:127534] [KO:K07623]
(EKVP3) GJA1 [HSA:2697] [KO:K07372]
(EKVP4) KDSR [HSA:2531] [KO:K04708]
(EKVP5) KRT83 [HSA:3889] [KO:K07605]
(EKVP6) TRPM4 [HSA:54795] [KO:K04979]
(EKVP7) PERP [HSA:64065] [KO:K10136]
H00714 Vohwinkel syndrome Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading ... Congenital malformation GJB2 [HSA:2706] [KO:K07621]
(variant form) LORICRIN [HSA:4014] [KO:K10385]
H00722 Epidermolytic palmoplantar keratoderma ... (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins ... Congenital malformation (EPPK1) KRT9 [HSA:3857] [KO:K07604]
(EPPK2) KRT1 [HSA:3848] [KO:K07605]
H00723 Non-epidermolytic palmoplantar keratoderma ... palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on. Congenital malformation (NEPPK) KRT16 [HSA:3868] [KO:K07604]
(PPKNEFD) KRT6C [HSA:286887] [KO:K07605]
H00778 Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. ... Congenital malformation NOG [HSA:9241] [KO:K04658]
H00794 Aromatase excess syndrome ... estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. Female patients experience premature breast ... Endocrine and metabolic disease CYP19A1 (gain of function) [HSA:1588] [KO:K07434]
H00810 Progressive myoclonic epilepsy ... dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA) ... Nervous system disease (EPM1A) CSTB [HSA:1476] [KO:K13907]
(EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
(EPM2A) EPM2A [HSA:7957] [KO:K14165]
(EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(EPM3) KCTD7 [HSA:154881] [KO:K21917]
(EPM4) SCARB2 [HSA:950] [KO:K12384]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
(EPM7) KCNC1 [HSA:3746] [KO:K04887]
(EPM8) CERS1 [HSA:10715] [KO:K04710]
(EPM9) LMNB2 [HSA:84823] [KO:K07611]
(EPM10) PRDM8 [HSA:56978] [KO:K20797]
(EPM11) SEMA6B [HSA:10501] [KO:K06842]
(EPM12) SLC7A6OS [HSA:84138]
H00819 Stargardt disease
Fundus flavimaculatus 		... posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4 ... Nervous system disease (STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
H00851 Proximal symphalangism Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints. Congenital malformation (SYM1A) NOG [HSA:9241] [KO:K04658]
(SYM1B) GDF5 [HSA:8200] [KO:K04664]
H00852 Klippel-Feil syndrome Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or ... Congenital malformation (KFS1) GDF6 [HSA:392255] [KO:K20012]
(KFS2) MEOX1 [HSA:4222] [KO:K09322]
(KFS3) GDF3 [HSA:9573] [KO:K22672]
(KFS4) MYO18B [HSA:84700] [KO:K10362]
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